id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
hae:34646347 | Case report: Hereditary angioedema in pregnancy. | [
"Hereditary angioedema (HAE) is a rare genetic condition associated with episodic swelling due to dysfunction of bradykinin regulation pathways. This is most frequently caused by low level and/or function of the C1-esterase inhibitor protein (C1INH) which is known as hereditary angioedema with C1 inhibitor deficien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"hereditary angioedema with C1 inhibitor deficiency",
"(C1INH-HAE)",
"Pregnancy",
"labour",
"pregnancy",
"C1INH-HAE",
"C1INH-HAE",
"pregnancy"
] | [
"rare genetic condition"
] | [
"episodic swelling"
] | [
"uncomplicated, spontaneous vaginal delivery",
"Intravenous C1INH",
"breastfeeding",
"any obstetric intervention",
"Routine prophylactic administration for uncomplicated vaginal birth",
"deliver",
"C1INH replacement",
"fiberoptic intubation",
"front-of-neck access equipment"
] | null | [
"dysfunction of bradykinin regulation pathways",
"low level and/or function of the C1-esterase inhibitor protein (C1INH)"
] | null |
hae:34634851 | [Diagnosis of hereditary angioedema after thirty years of clinical manifestations]. | [
"Diagnosis and treatment of hereditary angioedema (HAE) are necessary to improve the quality of life and even the survival of patients.",
"A 52-year-old woman with angioedema for 30 years, which affects the face, tongue, and hands. It is asymmetric, with neither pruritus nor urticaria, without response to antihis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Diagnosis and treatment of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"hereditary angioedema (HAE)",
"HAE type C1-INH normal subtype Unknown",
"HAE"
] | null | [
"angioedema for 30 years",
"affects the face, tongue, and hands",
"spontaneous resolution in 48 hours to 72 hours",
"total resolution of the crises",
"radical change in the quality of life"
] | [
"two months",
"androgen therapy",
"Outpatient follow-up"
] | null | null | [
"neither pruritus nor urticaria",
"without response to antihistamines or corticosteroids",
"Normal physical examination between exacerbations",
"Autoimmune and lymphoproliferative diseases were ruled out",
"Values of C1q, C4, C1-INH were normal",
"no angioedema crisis",
"acquired angioedema was ruled ou... |
hae:34586422 | Hereditary Angioedema in Pregnancy. | [
"Hereditary angioedema is a rare disease of potentially life-threatening attacks of angioedema that can affect patients of all ages, including women of childbearing age. Pregnancy can affect the course of the disease and the choice of treatment used. It is important for the care providers to recognize this disease ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"pregnancy",
"hereditary angioedema",
"hereditary angioedema",
"pregnancy"
] | null | [
"potentially life-threatening attacks of angioedema",
"recurrent episodes of angioedema",
"severe abdominal pains of unclear etiology"
] | [
"Plasma-derived C1 inhibitor concentrate",
"preventive therapy",
"successful pregnancy and delivery",
"pregnancy",
"delivery"
] | null | null | [
"without urticaria"
] |
hae:34453809 | Hereditary angioedema. Diagnosis in an asymptomatic elderly woman. | [
"Hereditary angioedema (HAE) is a rare disease with an autosomal dominant heredity pattern, due to mutations in the gene encoding the C1 esterase inhibitor. The onset of symptoms usually occurs during childhood. Clinically, it is characterized by repeated episodes of angioedema that may affect the skin, abdomen and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"rare disease",
"HAE"
] | [
"autosomal dominant heredity pattern",
"mutations in the gene encoding the C1 esterase inhibitor"
] | [
"repeated episodes of angioedema that may affect the skin, abdomen and larynx/pharynx",
"fatal"
] | null | null | null | [
"asymptomatic"
] |
hae:34235015 | Acute Right Ventricular Dysfunction Secondary to Hereditary Angioedema Exacerbation. | [
"This is a case report of a 31-year-old woman with past medical history of hereditary angioedema (HAE) who developed acute right ventricular dysfunction. The patient presented to the emergency department with complaints of acute abdominal pain and swelling. Her electrocardiogram demonstrated sinus tachycardia and T... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a case report of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 31-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"HAE exacerbation"
] | null | [
"acute right ventricular dysfunction",
"acute abdominal pain",
"swelling",
"sinus tachycardia",
"T wave inversion in leads V1-V3",
"ejection fraction of 65-70%",
"the right ventricle (RV) was dilated and severely hypokinetic",
"moderate tricuspid regurgitation",
"abdominal swelling resolved"
] | [
"managed symptomatically",
"discharged home after three days"
] | null | [
"troponins continued to trend down"
] | [
"without findings suggestive of ischemia",
"normal left ventricular function",
"normal RV function"
] |
hae:34224212 | Management of hereditary angioedema type I and homozygous MTHFR mutation during pregnancy. | [
"Hereditary angioedema (HAE) is an autosomal dominant disease, characterized by edema attacks resulting from quantitative and/or functional deficiency of the C1 inhibitor (C1-INH), which acts in controlling the complement, coagulation, fibrinolysis, and contact systems. The exacerbation of these systems results in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"thrombophilia",
"HAE",
"HAE",
"pregnancy",
"HAE",
"pregnancy",
"miscarriage",
"pregnancy",
"HAE"
] | [
"autosomal dominant disease",
"homozygous MTHFR mutation, G2A1",
"homozygosity for the MTHFR enzyme",
"homozygous MTHFR mutation"
] | [
"edema attacks",
"accumulation of atheromatous plaques",
"arterial and venous thrombosis",
"crises",
"abortion",
"gestational sac detachment",
"bleeding and partial detachment of gestational sac",
"attacks of angioedema",
"abortion",
"attacks of angioedema"
] | [
"first pregnancy terminated",
"at 5.1 weeks",
"gestation",
"treated with fresh plasma",
"treatment with a plasma-derived C1-INH esterase",
"breastfeeding",
"prophylaxis with plasma-derived C1-INHdp"
] | null | [
"quantitative and/or functional deficiency of the C1 inhibitor (C1-INH), which acts in controlling the complement, coagulation, fibrinolysis, and contact systems",
"exacerbation of these systems",
"decreased circulating levels of kallikrein and conversion of bradykinin",
"deficiency of methylenetetrahydrofola... | null |
hae:33936709 | Transition to lanadelumab-flyo from three medications for a hereditary angioedema patient with a variant in the SYTL2 gene: A case report. | [
"Non-SERPING1 gene variant hereditary angioedema patients often need to take progesterone, attenuated androgens, and antifibrinolytics to control symptoms. These drugs may need to be tapered to extinction or reduced as lanadelumab-flyo reaches maximum concentration."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Non-SERPING1 gene variant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"hereditary angioedema"
] | [
"Non-SERPING1 gene variant"
] | [
"control symptoms"
] | [
"progesterone",
"attenuated androgens, and antifibrinolytics",
"tapered to extinction or reduced",
"lanadelumab-flyo"
] | null | null | null |
hae:33934932 | Clinical profile of hereditary angioedema from a tertiary care centre in India. | [
"Hereditary angioedema (HAE) is a clinical condition which could be fatal if not identified and managed appropriately. Knowledge of this condition is mostly confined to individual case reports and literature reviews in India. In this retrospective study we describe HAE cases which presented to a tertiary care centr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"type 1 HAE",
"HAE",
"HAE specific treatment",
"HAE"
] | null | [
"Orofacial edema",
"edema of the extremities",
"GI tract symptoms",
"genital involvement"
] | [
"Low dose androgens or tranexamic acid or both"
] | [
"India",
"India",
"India"
] | [
"C1 esterase inhibitor (C1 INH) and C4 levels",
"low C1INH levels"
] | [
"normal C1 INH levels"
] |
hae:33864899 | Angioedema with severe acute abdominal pain: Think of hereditary angioedema. | [
"Angioedema can be either mast cell-(histamine-)mediated or bradykinin-mediated. Treatment approaches for the two types are very different, making differential diagnosis critical. Severe acute abdominal pain caused by intestinal angioedema is commonly misdiagnosed, especially when associated with bradykinin-mediate... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"bradykinin-mediated",
"bradykinin-mediated angioedema",
"hereditary angioedema (HAE)",
"bradykinin-mediated angioedema",
"angioedema",
"bradykinin-mediated types",
"Bradykinin-induced angioedema",
"mast cell-mediated angioedema",
"HAE",
"bradykinin-mediated angioedema",
"angioed... | [
"inherited or acquired"
] | [
"Severe acute abdominal pain",
"intestinal angioedema",
"recurrent, undiagnosed abdominal pain",
"recurrent attacks of non-urticarial, nonpruritic edema usually affecting the face, respiratory tract, extremities, gastrointestinal tract, and genitalia",
"painful abdominal symptoms",
"recurrent, abdominal s... | null | null | [
"mast cell-(histamine-)mediated"
] | [
"mast cell-mediated angioedema",
"initial misdiagnosis as appendicitis or other forms of acute abdomen"
] |
hae:33769522 | Obstetric Anesthetic Management for Parturients with Hereditary Angioedema: A Case Report and Suggested Protocol. | [
"Hereditary angioedema (HAE) is a disease manifested by repeated episodes of localized submucosal or subcutaneous edematous episodes, potentially triggered by emotional stress, mechanical trauma, or intake of estrogens. We present our experience managing two parturients with HAE. Multidisciplinary care is essential... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"Pregnancy"
] | null | [
"repeated episodes of localized submucosal or subcutaneous edematous episodes",
"emotional stress",
"mechanical trauma",
"triggering HAE episodes"
] | [
"intake of estrogens",
"Multidisciplinary care",
"C1 esterase inhibitor concentrate",
"prophylaxis",
"Neuraxial analgesia",
"avoid general anesthesia",
"Vaginal delivery"
] | null | null | [
"without need for emergent treatment for angioedema symptoms"
] |
hae:33768824 | Subcutaneous C1-Inhibitor Concentrate for prophylaxis during pregnancy and lactation in a patient with C1-INH-HAE. | [
"Subcutaneous plasma-derived human C1-Inhibitor concentrate (pdC1INH) may be safe and effective for long-term prophylaxis during pregnancy and lactation in hereditary angioedema patients."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Subcutaneous plasma-derived human C1-Inhibitor concentrate (pdC1INH)\n <span style=\"font-size: 0.8em; fon... | [
"hereditary angioedema"
] | null | null | [
"Subcutaneous plasma-derived human C1-Inhibitor concentrate (pdC1INH)",
"long-term prophylaxis during pregnancy and lactation"
] | null | null | null |
hae:33653842 | Angioedema as a predominant symptom of Bordetella pertussis infection. | [
"A 41-year-old woman was referred to our hospital with a 6-week history of severe angioedema, dyspnoea and coughing. Initial investigations focused on common causes of angioedema. Clinical presentation and resistance to treatment with antihistamines and steroids made histamine-mediated angioedema unlikely. Bradykin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 41-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"exogen pathogens",
"recent B. pertussis infection",
"Pertussis toxin",
"B. pertussis infection",
"pertussis"
] | null | [
"6-week history",
"severe angioedema",
"dyspnoea",
"coughing",
"angioedema",
"angioedema",
"increased vascular permeability",
"angioedema"
] | [
"adequate antibiotic treatment",
"vaccination"
] | null | [
"Bordetella pertussis toxins IgA and IgG were found to be positive"
] | [
"resistance to treatment with antihistamines and steroids",
"histamine-mediated angioedema unlikely",
"Bradykinin-mediated angioedema, such as hereditary or drug-induced angioedema"
] |
hae:33640192 | Unusual presentation of linear wrist blisters associated with hereditary angioedema: The first case report in Taiwan. | [
"Hereditary angioedema (HAE) is an autosomal dominant disease characterized clinically by recurrent episodes of swelling in the tissues of the extremities, face, abdomen, and respiratory tract. It is most often caused by C1 esterase inhibitor (C1 INH) gene mutation. This swelling may lead to bradykinin release, res... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"autosomal dominant disease"
] | [
"recurrent episodes of swelling in the tissues of the extremities, face, abdomen, and respiratory tract",
"swelling",
"recurrent, paroxysmal, painful angioedema",
"Blister formation",
"linear wrist blisters on her skin, with swelling",
"the blisters showed dramatic improvement",
"edema blisters"
] | [
"treated with attenuated androgens (Danazol) for two weeks"
] | null | [
"C1 esterase inhibitor (C1 INH) gene mutation",
"bradykinin release"
] | [
"unnecessary dermatological diagnostic workup",
"and treatment"
] |
hae:33554204 | Acute Presentation of Undiagnosed Hereditary Angioedema of the Larynx: Averting Death. | [
"Hereditary angioedema (HAE) differs from histamine-mediated angioedema in that it is resistant to steroids and antihistamines. Laryngeal attacks of this condition, if not diagnosed timely, carry a mortality rate up to 34%. Rarely, this disease goes undiagnosed until late adulthood and presents a life-threatening e... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"hereditary angioedema",
"HAE",
"angioedema"
] | null | [
"Laryngeal attacks",
"life-threatening episode",
"progressive breathing difficulty two hours after consuming a carbonated drink",
"supraglottic edema"
] | [
"emergency tracheostomy to secure the airway"
] | null | [
"Low complement factor 4 levels with low C1 esterase inhibitor functionality"
] | [
"histamine-mediated angioedema",
"resistant to steroids and antihistamines",
"did not respond to steroids or antihistamines",
"failed intubation",
"Absence of symptoms such as itching or urticaria",
"inadequate response to steroids"
] |
hae:33544288 | A case of hereditary angioedema due to C1-inhibitor deficiency with recurrent abdominal pain diagnosed 40 years after the occurrence of the initial symptom. | [
"Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH) is a rare disease, which induces an acute attack of angioedema mediated by bradykinin. HAE-C1-INH can cause serious abdominal pain when severe edema develops in the gastrointestinal tract. However, because it takes a long time, 13.8 years on average... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH)\n <span style=\"font-size: 0.8em; font-w... | [
"Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH)",
"HAE-C1-INH",
"HAE-C1-INH",
"HAE-C1-INH",
"HAE-C1-INH",
"HAE-C1-INH",
"HAE-C1-INH",
"HAE-C1-INH"
] | null | [
"acute attack of angioedema mediated by bradykinin",
"serious abdominal pain",
"severe edema develops in the gastrointestinal tract",
"severe abdominal pain",
"severe abdominal pain",
"unidentified recurrent abdominal pain"
] | [
"numerous abdominal operations",
"hospitalization with the administration of opioid",
"self-administration for an acute attack with icatibant, a selective bradykinin B2 receptor antagonist"
] | [
"Japan"
] | null | [
"unnecessary surgical procedures",
"did not need hospitalizing for ten months after the beginning of the treatment"
] |
hae:33530679 | Capillary leak syndrome and disseminated intravascular coagulation after kidney transplantation in a patient with hereditary angioedema - A case report. | [
"Hereditary angioedema (HAE) is a rare disease caused by the deficiency of C1 esterase inhibitor. HAE has a risk of life-threatening complications such as capillary leak syndrome (CLS) and disseminated intravascular coagulation (DIC).",
"A 42-year-old male patient with HAE presented for deceased-donor kidney tran... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"CLS",
"HAE"
] | [
"rare disease"
] | [
"life-threatening complications",
"capillary leak syndrome (CLS)",
"disseminated intravascular coagulation (DIC)",
"edema development",
"generalized edema",
"hypotension",
"DIC",
"sustained hypotension",
"generalized edema became worse",
"died",
"shock"
] | [
"deceased-donor kidney transplantation",
"Prophylactic fresh frozen plasma (FFP)",
"surgery",
"surgery"
] | null | [
"deficiency of C1 esterase inhibitor",
"hypoalbuminemia"
] | [
"no problems during surgery",
"despite treatment with albumin, danazol, FFP, and vasoactive drugs",
"despite intensive care"
] |
hae:33508266 | Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation. | [
"Hereditary angioedema (HAE) is a potentially fatal disorder resulting in recurrent attacks of severe swelling. It may be associated with a genetic deficiency of functional C1 inhibitor or with normal C1 inhibitor (HAEnCI). In families with HAEnCI, HAE-linked mutations in the F12, PLG, KNG1, ANGPT1, or MYOF genes h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAEnCI)",
"HAEnCI",
"HAE",
"HAEnCI",
"HAEnCI"
] | [
"genetic deficiency of functional C1 inhibitor",
"-linked mutations in the F12, PLG, KNG1, ANGPT1, or MYOF genes",
"novel disease-linked mutation",
"p.Thr144Ser mutation is likely to affect the interaction between 2 β-sheets stabilizing the active center of the 3-OST-6 protein",
"mutant 3-OST-6 fails to tra... | [
"recurrent attacks of severe swelling",
"angioedema formation"
] | null | null | [
"heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6) mutation c.430A>T (p.Thr144Ser)",
"HS-glucosamine 3-O-sulfotransferase 6 (3-OST-6)",
"HS biosynthesis",
"incomplete HS biosynthesis"
] | [
"normal C1 inhibitor"
] |
hae:33485376 | Successful treatment with Cinryze® replacement therapy of a pregnant patient with hereditary angioedema: a case report. | [
"Hereditary angioedema (HAE) is a rare disease characterized with recurrent swelling of subcutaneous or mucosal tissue that resolves in approximately 3 days. It can be presented with peripheral edema, abdominal and life-threatening laryngeal angioedema. A variety of triggers are known to cause episodes of angioedem... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"pregnancy",
"HAE attacks",
"pre-existing HAE",
"pregnancy"
] | null | [
"recurrent swelling of subcutaneous or mucosal tissue",
"peripheral edema",
"abdominal",
"life-threatening laryngeal angioedema",
"angioedema",
"estrogen exposure",
"pregnancy",
"disease exacerbations",
"pregnancy",
"angioedema attacks worsened"
] | [
"prophylactic use of plasma-derived C1 inhibitor concentrate",
"treated with Cinryze® replacement therapy throughout the pregnancy 1000 IU i.v. 48 times",
"gave birth to a healthy male infant, via C-section",
"treatment with Cinryze® replacement therapy"
] | [
"Caucasian"
] | null | [
"symptom-free for 6 months",
"required no treatment for HAE",
"no adverse effects on the infant"
] |
hae:33457436 | Colonic Intussusception Secondary to Hereditary Angioedema. | [
"Hereditary angioedema (HAE) is a rare genetic disease with numerous gastrointestinal manifestations. Intussusception, although rare, has been a reported complication with documentation of bowel wall edema on endoscopy during an acute flare. With the advent of synthetic C1 esterase inhibitors, this disease has beco... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE flare",
"HAE flare"
] | [
"rare genetic disease"
] | [
"gastrointestinal manifestations",
"Intussusception",
"bowel wall edema",
"acute flare",
"colonic intussusception",
"complete endoscopic resolution",
"intussusception"
] | [
"synthetic C1 esterase inhibitors",
"C1 esterase inhibitor"
] | null | null | [
"without any further need for surgical or endoscopic intervention"
] |
hae:33452148 | Solifenacin-induced acute urticaria and angioedema: a rare adverse effect. | [
"Antimuscarinics are first-line medication for management of overactive bladder with solifenacin being commonly prescribed. Angioedema is the swelling of mucosa and submucosal tissue. There are no published case reports of drug-induced angioedema involving solifenacin. We report a case of a 41-year-old man with spi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Antimuscarinics\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"overactive bladder",
"Angioedema",
"drug-induced angioedema",
"spinal cord injury",
"angioedema"
] | null | [
"swelling of mucosa and submucosal tissue",
"oedema of face, lips, tongue",
"associated pruritic urticaria",
"temporal association between solifenacin",
"angioedema",
"complete resolution of symptoms after discontinuing the drug"
] | [
"Antimuscarinics",
"solifenacin",
"solifenacin",
"taking 5 mg of solifenacin",
"solifenacin"
] | null | null | [
"food allergy, insect bite",
"hereditary angioedema",
"use of NSAIDs, ACE inhibitors and antibiotics were ruled out"
] |
hae:33348403 | Short-term Prophylaxis for Delivery in Pregnant Women with Hereditary Angioedema with Normal C1-Inhibitor. | [
"To verify the efficacy of short-term prophylaxis for vaginal or cesarean section childbirth with plasma-derived C1-inhibitor concentrate in pregnant women. They should have hereditary angioedema (HAE) and normal plasma C1-inhibitor.",
"Case report of pregnant women diagnosed with HAE with normal C1-inhibitor who... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To verify the efficacy of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n short-term prophylaxis for vaginal or cesarean section childbirth with plasma-deriv... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE"
] | [
"presence of a pathogenic mutation in the F12 gene"
] | [
"angioedema attacks"
] | [
"short-term prophylaxis for vaginal or cesarean section childbirth with plasma-derived C1-inhibitor concentrate",
"treated with intravenous C1-inhibitor concentrate for prophylaxis of angioedema attacks",
"hospitalized for delivery",
"uneventfully",
"C1-inhibitor concentrate",
"delivery"
] | null | null | [
"normal plasma C1-inhibitor",
"normal C1-inhibitor",
"normal serum level of C1-inhibitor",
"no HAE symptoms in the following 72 hours"
] |
hae:33197705 | Successful perioperative management of three patients with hereditary angioedema without C1 esterase inhibitor therapy: A developing country perspective. | [
"Hereditary angioedema (HAE) is a rare inherited disorder characterized by sudden and unpredictable appearance of swelling. Surgical procedures, even minor ones, are known to precipitate an attack in these patients. C1 esterase inhibitor (C1-INH) therapy may be effective for short term prophylaxis in such situation... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE"
] | [
"rare inherited disorder"
] | [
"sudden and unpredictable appearance of swelling",
"episode of angioedema"
] | [
"Surgical procedures",
"minor ones",
"C1 esterase inhibitor (C1-INH) therapy",
"short term prophylaxis",
"short term prophylaxis",
"using short term prophylaxis for a dental procedure, a Cesarean section and a major hip surgery",
"given FFP before and during the procedure",
"already taking stanozolol ... | null | null | [
"C1-INH therapy",
"not taking any prophylaxis",
"no related episodes of angioedema",
"C1-INH therapy is not available"
] |
hae:33164754 | Tranexamic acid for ACE inhibitor induced angioedema. | [
"Tranexamic acid (TXA) is an antifibrinolytic agent which inhibits conversion of plasminogen to plasmin, a key step in kallikrein activation and bradykinin formation. Tranexamic acid is used in prophylactic management of hereditary angioedema; however, evidence for TXA in angiotensin converting enzyme (ACE) inhibit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tranexamic acid (TXA) is an antifibrinolytic agent\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"hereditary angioedema",
"ACEI-AE",
"ACEI-AE"
] | null | null | [
"Tranexamic acid (TXA) is an antifibrinolytic agent",
"Tranexamic acid",
"prophylactic management",
"TXA",
"angiotensin converting enzyme (ACE) inhibitor-induced angioedema (ACEI-AE)",
"TXA",
"TXA"
] | null | [
"inhibits conversion of plasminogen to plasmin",
"kallikrein activation and bradykinin formation"
] | null |
hae:33083708 | Hereditary Angioedema Attack in Utero and Treatment of the Mother and Fetus. | [
"Hereditary angioedema (HAE), an inherited deficiency of functional C1 esterase inhibitor (C1-INH), is characterized by unpredictable recurrent episodes of painful and often disabling swelling in subcutaneous and/or submucosal tissues. We report the case of a 23-year-old woman with type I HAE who had abdominal, fac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"type I HAE",
"pregnancy",
"HAE attack",
"type I HAE",
"HAE attack"
] | [
"inherited deficiency of functional C1 esterase inhibitor (C1-INH)"
] | [
"unpredictable recurrent episodes of painful and often disabling swelling in subcutaneous and/or submucosal tissues",
"abdominal, facial, and peripheral attacks",
"facial HAE attack",
"symptoms improved",
"unusual abdominal sensation",
"fetal lower lip swelling (∼3 times the normal size)",
"limb swellin... | [
"week 38 of her pregnancy",
"self-administration of 50 U/kg of recombinant human C1-INH (total dose, 3500 U)",
"spontaneously delivered a healthy male infant",
"Treatment of the mother with recombinant human C1-INH"
] | null | null | null |
hae:32961312 | Vibratory Angioedema Subgroups, Features, and Treatment: Results of a Systematic Review. | [
"Vibratory angioedema (VA) is a subtype of chronic inducible urticaria that manifests with erythematous wheals or angioedema after skin exposure to vibration. Because the condition is rare, the available information is limited.",
"To systematically review the clinical manifestations and treatment options of VA.",... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Vibratory angioedema (VA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Vibratory angioedema (VA)",
"chronic inducible urticaria",
"vibratory urticaria",
"vibratory angioedema",
"vibratory-induced angioedema",
"vibratory-induced urticaria",
"VA",
"hereditary VA",
"acquired VA",
"hereditary VA",
"acquired VA",
"VA",
"VA",
"acquired VA"
] | null | [
"erythematous wheals",
"angioedema",
"skin exposure to vibration",
"Vibration-induced itching",
"wheals",
"systemic symptoms",
"angioedema",
"burning, pain",
"tingling"
] | [
"VA treatments",
"second-generation H1-antihistamines"
] | null | null | [
"not achieve complete control"
] |
hae:32923264 | Novel Use of Fresh Frozen Plasma in Treating Hereditary Angioedema: A Success Story From Pakistan. | [
"Hereditary angioedema (HAE) due to a C1-esterase inhibitor(C1-INH) deficiency is a rare and potentially life-threatening disorder. It is characterized by an episodic and self-limiting increase in vascular permeability. The condition manifests itself as recurrent attacks of swelling in any part of the body. The ang... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"angioedema",
"HAE",
"hereditary angioedema",
"acute attack of hereditary angioedema"
] | null | [
"episodic and self-limiting increase in vascular permeability",
"recurrent attacks of swelling in any part of the body",
"involvement of the respiratory tract, skin, and gastrointestinal tract",
"Laryngeal involvement",
"life-threatening",
"life-threatening laryngeal edema",
"asphyxia",
"cardiac arres... | [
"plasma-derived or recombinant C1-INH, ecallantide, and icatibant or bradykinin receptor antagonist",
"fresh frozen plasma (FFP)",
"successfully extubated after three days",
"FFP"
] | [
"Pakistan"
] | [
"C1-esterase inhibitor(C1-INH) deficiency"
] | [
"does not respond well to conventional angioedema therapy of steroids, adrenaline, and antihistamines",
"lack of availability of C1-INH concentrate"
] |
hae:32898127 | Misleading symptoms of hereditary angioedema type II mimicking familial mediterranean fever. | [
"Hereditary angioedema (HAE) is a rare, debilitating and potentially life-threatening disease characterized by recurrent attacks of oedema. With the development of new therapies and better availability of diagnostic tools, important advances have been made. However, the disease still remains frequently misdiagnosed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"Familial Mediterranean fever (FMF)",
"autoinflammatory syndrome",
"serositis",
"HAE type II"
] | null | [
"potentially life-threatening",
"recurrent attacks of oedema",
"fever",
"arthritis",
"skin involvement",
"severe abdominal pain resembling that of acute abdomen"
] | null | null | null | [
"inadequately treated"
] |
hae:32894844 | Acquired Angioedema due to C1 Inhibitor Deficiency Preceding Splenic Marginal Zone Lymphoma: Further Insights from Clinical Practice. | [
"Acquired angioedema due to C1 inhibitor deficiency (AAE-C1-INH) is a very rare disease. In clinical practice, it may be difficult to differentiate AAE-C1-INH from hereditary angioedema due to C1-INH deficiency (HAE-C1-INH). In both conditions, patients are at an increased risk of death from asphyxiation due to upp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acquired angioedema due to C1 inhibitor deficiency (AAE-C1-INH)\n <span style=\"font-size: 0.8em; font-wei... | [
"Acquired angioedema due to C1 inhibitor deficiency (AAE-C1-INH)",
"AAE-C1-INH",
"hereditary angioedema due to C1-INH deficiency (HAE-C1-INH)",
"AAE-C1-INH",
"lymphoproliferative and autoimmune diseases",
"AAE-C1-INH associated with splenic marginal zone lymphoma",
"AAE",
"lymphoproliferative disease"... | null | [
"death",
"asphyxiation",
"upper airway obstruction",
"complete remission of angioedema",
"recurrent isolated angioedema",
"resolution of the angioedema attacks"
] | [
"AAE-C1-INH",
"C1-INH"
] | null | [
"presence of anti-C1-INH antibodies",
"Measurements of C3, C4, C1-INH, and C1q levels",
"functional activity of C1-INH"
] | null |
hae:32888936 | Orthognathic Surgery in Hereditary Angioedema With Normal C1 Inhibitor: A Clinical Response to Concentrated C1 Inhibitor Against Angioedema Attack. | [
"Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by episodes of localized swelling, often of life-threatening severity. HAE due to C1 inhibitor (C1-INH) deficiency is common and is divided into types 1 and 2, but HAE with normal C1-INH is exceedingly rare. Herein, we describe the cas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"rare autosomal dominant disorder"
] | [
"episodes of localized swelling",
"life-threatening severity",
"mild hoarseness",
"hoarseness",
"mild laryngeal edema",
"throat tightness 4 days after surgery",
"throat tightness slowly resolved",
"reduced facial swelling",
"Postoperative throat tightness",
"angioedemic attack"
] | [
"orthognathic surgery",
"jaw deformity",
"commenced preoperative orthodontic treatment",
"scheduled orthognathic surgery",
"orthognathic surgery",
"surgery",
"Concentrated C1-INH was administered",
"surgery",
"orthognathic surgery",
"administration of concentrated C1-INH",
"Concentrated C1-INH a... | null | [
"C1 inhibitor (C1-INH) deficiency"
] | [
"normal C1-INH",
"normal C1-INH",
"Serum C1-INH, C3, C4, and CH50 levels were normal",
"normal C1-INH",
"without complications",
"although her facial swelling was consistent with the procedure performed and was not remarkable",
"normal C1-INH",
"normal C1-INH"
] |
hae:32877578 | Antisense Inhibition of Prekallikrein to Control Hereditary Angioedema. | [
"Hereditary angioedema is characterized by recurrent and unpredictable episodes of subcutaneous and mucosal swelling that can be life threatening. IONIS-PKK-LRx is a ligand-conjugated antisense oligonucleotide designed for receptor-mediated delivery to hepatocytes. In a compassionate-use pilot study, two patients w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"severe bradykinin-mediated angioedema"
] | null | [
"recurrent and unpredictable episodes of subcutaneous and mucosal swelling",
"life threatening",
"reduction in the angioedema attack rate"
] | [
"IONIS-PKK-LRx is a ligand-conjugated antisense oligonucleotide",
"receptor-mediated delivery to hepatocytes",
"administered weekly subcutaneous injections of the unconjugated parent drug, IONIS-PKKRx, for 12 to 16 weeks",
"IONIS-PKK-LRx at a dose of 80 mg every 3 to 4 weeks for 7 to 8 months"
] | null | null | null |
hae:32752570 | Angioedema and Epinephrine Causing a Stress-Induced Cardiomyopathy. | [
"Presentations of angioedema range from mild edema to immediate life-threatening airway involvement. Management is typically straightforward and dependent on the degree of presentation. In our case, a 61-year-old female presented with angioedema requiring immediate intubation. Before admission to the intensive care... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Presentations of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"angioedema",
"angioedema",
"stress-induced cardiomyopathy"
] | null | [
"mild edema",
"immediate life-threatening airway involvement",
"ST segment elevations"
] | [
"immediate intubation",
"admission to the intensive care unit",
"ACE-inhibitor induced angioedema"
] | null | null | null |
hae:32732812 | Gastrointestinal manifestations of angioedema: a potential area of misdiagnosis. | [
"Abdominal pain is one of the most common conditions leading people to the emergency department. An uncommon but well described cause of abdominal pain is angioedema of the gastrointestinal tract due to recurrent angioedema without wheals. Abdominal involvement is very common in hereditary angioedema (HAE), but it ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Abdominal pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"hereditary angioedema (HAE)",
"acquired angioedema",
"allergic forms",
"HAE",
"HAE",
"HAE"
] | null | [
"Abdominal pain",
"abdominal pain",
"angioedema of the gastrointestinal tract",
"recurrent angioedema",
"Abdominal involvement",
"involvement of gastrointestinal tract",
"abdominal pain",
"Attacks can involve the entire gastrointestinal tract, such as the oropharynx, small intestine, colon, liver, or ... | null | null | null | [
"without wheals",
"without cutaneous or respiratory symptoms",
"useless surgical and medical procedures"
] |
hae:32659156 | Hereditary C1 inhibitor deficiency associated with systemic lupus erythematosus. | [
"Here, we report a family with two children (the elder son and younger daughter) diagnosed with juvenile-onset systemic lupus erythematosus (SLE) and the father diagnosed with hereditary angioedema. Serum C1 inhibitor (C1-INH) levels were low, and clinical exome next-generation sequencing detected a frameshift muta... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Here, we report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family with two children (the elder son and younger daughter) diagnosed with juvenile-onset... | [
"lupus nephritis",
"monogenic SLE",
"SLE-like-phenotype"
] | [
"frameshift mutation in the SERPING-1 gene"
] | [
"cutaneous symptoms",
"fever",
"polyarthralgia",
"cutaneous manifestation",
"fever",
"polyarthralgia",
"abdomen pain"
] | [
"rituximab therapy as well as mycophenolate mofetil and low-dose steroids to control disease activity",
"mycophenolate mofetil, hydroxychloroquine and low-dose steroids"
] | null | [
"Serum C1 inhibitor (C1-INH) levels were low",
"hereditary C1-INH deficiency"
] | [
"never experienced angioedema",
"not on any regular medication for these symptoms"
] |
hae:32641558 | Monoclonal gammopathy with significance: case series and literature review. | [
"Monoclonal gammopathy of undetermined significance (MGUS) is considered an asymptomatic precursor of malignant lymphoid disorders. This case series and literature review shows that these monoclonal gammopathies can cause significant morbidity. We describe a patient with angioedema due to acquired C1-esterase inhib... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Monoclonal gammopathy of undetermined significance (MGUS)\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Monoclonal gammopathy of undetermined significance (MGUS)",
"malignant lymphoid disorders",
"monoclonal gammopathies",
"cryoglobulinemia type II",
"skin vasculitis",
"glomerulonephritis",
"glomerulonephritis",
"nephrotic syndrome",
"monoclonal gammopathy",
"MGUS",
"monoclonal gammopathies",
"... | null | [
"angioedema"
] | null | null | [
"acquired C1-esterase inhibitor deficiency"
] | [
"without organ damage caused by monoclonal gammopathies"
] |
hae:32528748 | Pregnancy-Induced Exacerbation of Hereditary Angioedema in a Multiparous Caucasian Female. | [
"Hereditary angioedema (HAE) manifests due to a deficiency of the C1-esterase inhibitor and can present with life-threatening swelling of multiple body regions such as the face, hands, upper respiratory tract, and intestinal walls. The present case describes the manifestation and symptomatic exacerbation of HAE in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE exacerbations",
"pregnancy"
] | null | [
"life-threatening swelling of multiple body regions such as the face, hands, upper respiratory tract, and intestinal walls",
"symptomatic exacerbation"
] | [
"icatibant"
] | [
"Caucasian"
] | [
"deficiency of the C1-esterase inhibitor"
] | [
"unnecessary morbidity and interventions"
] |
hae:32514272 | Co-occurrence between C1 esterase inhibitor deficiency and autoimmune disease: a systematic literature review. | [
"Hereditary angioedema (HAE) is caused by a SERPING1 gene defect resulting in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH). The prevalence of autoimmune diseases (ADs) in patients with HAE appears to be higher than the general population. A systematic literature review was conducted ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"autoimmune diseases (ADs)",
"HAE",
"co-occurrence between HAE and ADs",
"HAE Type I or II",
"comorbid ADs",
"lymphoproliferative disorders",
"co-occurring HAE and AD",
"ADs",
"systemic lupus erythematosus",
"thyroid disease",
"glomerulonephritis",
"ADs",
"Lu... | [
"SERPING1 gene defect"
] | null | null | null | [
"decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH)",
"C1-INH deficiency",
"lack of sufficient C1-INH function"
] | [
"Non",
"angiotensin-converting-enzyme inhibitors"
] |
hae:32461528 | C1-inhibitor Deficiency Induces Myositis-like Symptoms Via the Deposition of the Membrane Attack Complex in the Muscle. | [
"We herein report a 56-year-old Japanese woman who had been diagnosed with hereditary angioedema. She experienced progressing muscle weakness and pain in the upper and lower extremities. Blood tests revealed a marked increase in creatine kinase levels; however, myositis-specific autoantibodies were not detected. Se... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We herein report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 56-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"hereditary angioedema",
"necrotizing myopathy"
] | null | [
"progressing muscle weakness",
"pain in the upper and lower extremities",
"myositis-like symptoms"
] | null | [
"Japanese"
] | [
"marked increase in creatine kinase levels",
"Serum C1-inhibitor activity and C4 levels were low",
"C1-inhibitor deficiency",
"activation of the complement pathway"
] | [
"myositis-specific autoantibodies were not detected"
] |
hae:32338026 | Ultrasound findings in an abdominal crisis of a patient with hereditary angioedema. | [
"ereditary Angioedema (HAE) is a rare autosomal-dominant disease caused by serum C1 inhibitor deficiency. This deficiency leads to an up-regulation of complement, activating the bradykinin pathway and causing vascular permeability and subsequent mucosal edema. Abdominal angioedema is a less recognized type of angio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ereditary Angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"ereditary Angioedema (HAE)",
"Abdominal angioedema",
"angioedema",
"HAE"
] | [
"rare autosomal-dominant disease"
] | [
"vascular permeability",
"mucosal edema",
"subtle, diffuse abdominal pain",
"nausea",
"overt peritonitis",
"abdominal angioedema"
] | null | null | [
"serum C1 inhibitor deficiency",
"deficiency",
"up-regulation of complement, activating the bradykinin pathway"
] | null |
hae:32295794 | Hereditary angioedema: the challenges of cross-border family investigation and treatment. | [
"Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 201... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"inherited disorder"
] | [
"rare genetic disorder"
] | [
"recurrent swellings involving subcutaneous and submucosal tissue",
"involving the upper airway",
"angioedema attack"
] | [
"Denmark"
] | [
"Syrian",
"refugee",
"Denmark",
"Germany",
"Turkey",
"Saudi Arabia",
"USA",
"Syria"
] | null | null |
hae:32228367 | Acquired C1-inhibitor deficiency due to splenic marginal zone lymhoma: Case Report. | [
"We present the case of a 67-year-old woman who suffered recurrent episodes of angioedema of the face and larynx. After thorough biochemical investigations, an acquired deficiency of C1-INH was suspected. To evaluate a potential underlying malignancy, a whole-body FDG-PET/CT was performed and showed solely a marked... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 67-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"malignancy",
"splenic marginal zone lymphoma",
"lymphoproliferative disease"
] | null | [
"recurrent episodes of angioedema of the face and larynx",
"marked splenomegaly",
"recurrent acquired angioedema attacks"
] | null | null | [
"acquired deficiency of C1-INH"
] | null |
hae:32178893 | [Peri-operative management of a pregnant patient with hereditary angioedema submitted to a cesarean-section: case report]. | [
"Hereditary angioedema is an autosomal dominant disorder, presenting as sudden and recurring episodes of variable severity of subcutaneous and mucosa edema that may occur spontaneously or in response to triggers. There are three knwon types of hereditary angioedema. The disorder is caused by decrease in the plasma ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"pregnancy",
"type I hereditary angioedema"
] | [
"autosomal dominant disorder"
] | [
"sudden and recurring episodes of variable severity of subcutaneous and mucosa edema",
"edema",
"acute attack",
"previous episodes of angioedema",
"significant changes in volemia"
] | [
"Prophylaxis",
"pregnancy",
"any surgical procedure",
"before dental procedures",
"upon airway handling",
"submitted to a C-section"
] | null | [
"decrease in the plasma level or change in the functional capacity of C1 inhibitor",
"increase in bradykinin and in vascular permeability"
] | null |
hae:32076683 | Anaesthetic Approach for Patient with Hereditary Angioedema. | [
"Hereditary Angioedema (HEA), a disease caused by a mutation in the gene that encodes for the production of the fraction C1 in the complement (C1-INH), is a rare pathology (1/50.000) that causes swelling of the skin and submucosa in various organs, either naturally triggered or provoked by physical and psychologica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary Angioedema (HEA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary Angioedema (HEA)",
"HEA crisis",
"HEA",
"asthma",
"HEA",
"symptomatic choledocholithiasis"
] | [
"mutation in the gene that encodes for"
] | [
"swelling of the skin and submucosa in various organs",
"physical and psychological traumas",
"infections",
"swelling of the respiratory tracts",
"hemodynamic instability",
"arterial wall oedema",
"recovered consciousness"
] | [
"nonsteroidal anti-inflammatory drugs (NSAIDs) and angiotensin-converting enzyme inhibitors (ACEIs)",
"Surgical trauma",
"pre-surgical",
"short term prophylaxis",
"careful intra-operative management",
"rescue therapy",
"intensive post-surgery care",
"video-laparoscopic cholecystectomy approach",
"sh... | null | [
"production of the fraction C1 in the complement (C1-INH)",
"C1-INH deficiency in the wall of the manipulated arteries"
] | null |
hae:31888778 | Long-term safety outcomes of prekallikrein (Fletcher factor) deficiency: A systematic literature review of case reports. | [
"Background: Hereditary prekallikrein (Fletcher factor) deficiency is a rare condition characterized by a prolonged activated partial thromboplastin time. Inhibitors of plasma kallikrein have recently been approved for prophylaxis of hereditary angioedema and are under investigation for use in other indications. Ob... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Background: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary prekallikrein (Fletcher factor) deficiency\n <span style=\"font-size: 0.8em; font-w... | [
"hereditary angioedema",
"autoimmune-related diseases",
"Autoimmune-related diseases",
"Graves disease",
"systemic lupus erythematosus"
] | null | [
"cardiovascular",
"bleeding",
"Cardiovascular comorbidities",
"hypertension",
"cerebrovascular ischemia or stroke",
"Excessive bleeding episodes after surgery",
"cardiovascular, bleeding, and autoimmune comorbidities"
] | [
"Inhibitors of plasma kallikrein",
"long-term inhibition of this pathway",
"surgery or dental extractions",
"plasma kallikrein inhibition"
] | null | [
"Hereditary prekallikrein (Fletcher factor) deficiency",
"prolonged activated partial thromboplastin time",
"hereditary prekallikrein deficiency",
"hereditary prekallikrein deficiency (<10% of normal",
"shortening of activated partial thromboplastin time on increased incubation time)",
"prekallikrein defi... | [
"asymptomatic",
"no comorbidities",
"no complications",
"asymptomatic",
"not indicate any association between prekallikrein deficiency",
"and comorbidities"
] |
hae:31843319 | C1 Esterase Inhibitor for Ace-Inhibitor Angioedema: A Case Series and Literature Review. | [
"Angiotensin-converting enzyme (ACE) inhibitors are a commonly prescribed and effective medication to treat hypertension. Although generally well tolerated, about 1% of patients will experience angioedema, a potentially life-threatening adverse drug reaction. This reaction is thought to be mediated via a buildup of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiotensin-converting enzyme (ACE) inhibitors\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"hypertension",
"angioedema",
"hereditary angioedema",
"ACE inhibitor-induced angioedema",
"ACE inhibitor-induced angioedema"
] | null | [
"potentially life-threatening adverse drug reaction"
] | [
"Angiotensin-converting enzyme (ACE) inhibitors",
"Utilization of C1 esterase inhibitors",
"Utilization of C1 esterase inhibitors",
"C1 esterase therapy"
] | null | [
"buildup of bradykinin"
] | [
"not typically respond to epinephrine, corticosteroids, or antihistamines",
"Treatment did not result in rapid improvement of swelling",
"prevention of intubation",
"prevention of intensive care unit admission",
"ACE inhibitor-induced angioedema",
"not expected to prevent intubation"
] |
hae:34434309 | A Case Report of Rivaroxaban-Induced Urticaria and Angioedema With Possible Cross-Reaction to Dabigatran. | [
"Anticoagulants are commonly associated with hemorrhagic complications. However, rare hypersensitivity drug reactions associated with direct oral anticoagulants (DOACs) in form of cutaneous reactions such as urticaria as well as angioedema can have significant burden owing to increase in morbidity and mortality. An... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anticoagulants\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"urticaria",
"Angioedema",
"hereditary",
"idiopathic",
"urticaria",
"anaphylaxis",
"atrial fibrillation (AF)",
"venous thromboembolism (VTE)",
"VTE",
"rivaroxaban-induced urticaria"
] | null | [
"hemorrhagic complications",
"hypersensitivity drug reactions associated with direct oral anticoagulants (DOACs)",
"cutaneous reactions",
"angioedema",
"adverse drug reactions",
"angioedema",
"cross-reactivity to dabigatran",
"significant cutaneous reaction"
] | [
"Anticoagulants",
"DOACs",
"warfarin",
"anticoagulant",
"transitioned to warfarin with enoxaparin bridge"
] | null | null | [
"without any complications"
] |
hae:31780602 | Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome. | [
"A 23-year-old woman was referred to the allergy and immunology clinic for recurrent abdominal, cutaneous and joint swelling and pain with a history of mucosal infections since childhood. Her history and clinical findings were suggestive of two rare and complex disorders, hereditary angioedema (HAE) and Ehlers-Danl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 23-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioedema (HAE)",
"Ehlers-Danlos syndrome (EDS)",
"chronic pain syndrome",
"coexistence of HAE and EDS",
"EDS",
"HAE",
"EDS",
"rare disorders",
"HAE",
"EDS",
"chronic disorders"
] | null | [
"recurrent abdominal, cutaneous and joint swelling and pain",
"history of mucosal infections",
"recurrent episodes of abdominal and joint pain",
"recurrent abdominal pain",
"cutaneous swelling",
"increase in joint extensibility",
"recurrent shoulder subluxations",
"recurrent symptoms",
"70% improvem... | [
"/hospitalisations",
"C1-INH replacement therapy"
] | null | [
"persistently low levels of C4 and C1-esterase inhibitor (C1-INH) with low to low-normal C1-esterase function"
] | [
"initially misattributed to more common diagnoses such as esophagitis, depression",
"normal C1Q",
"no C1Q antibodies",
"no known genetic mutations were identified for EDS",
"unnecessary procedures due to misdiagnoses"
] |
hae:31653632 | Hereditary angio-oedema as a rare cause of small-bowel obstruction. | [
"A 52-year-old man with known hereditary angio-oedema (HAE) presented with a 2-day history of progressive severe abdominal pain, distension, nausea, vomiting and constipation. CT of his abdomen and pelvis showed small-bowel obstruction and ascites. HAE is a rare autosomal dominant disorder caused by a C1 esterase d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 52-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angio-oedema (HAE)",
"HAE",
"HAE",
"HAE"
] | [
"rare autosomal dominant disorder"
] | [
"progressive severe abdominal pain",
"distension",
"nausea",
"vomiting",
"constipation",
"small-bowel obstruction",
"ascites",
"episodic oedema of subcutaneous and mucosal tissues",
"affects the face and limbs",
"deformity; the respiratory tract",
"life-threatening laryngeal swelling",
"gastro... | [
"infusion of a C1 esterase inhibitor"
] | null | [
"C1 esterase deficiency"
] | [
"misdiagnosed",
"ineffective treatment and unnecessary surgery"
] |
hae:31579975 | Self-administration of icatibant in acute attacks of Type I hereditary angioedema: A case report and review of hereditary angioedema. | [
"Hereditary angioedema (HAE) is a rare group of genetic disease characterized by non-itchy swelling of subcutaneous and submucosal tissues of the extremities, genitalia, gastrointestinal tract, and upper airways, which can be life threatening. Moreover, unpredictability and recurrence of HAE attacks significantly a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"rare group of genetic disease",
"Type I HAE",
"HAE"
] | null | [
"non-itchy swelling of subcutaneous and submucosal tissues of the extremities, genitalia, gastrointestinal tract, and upper airways",
"life threatening",
"unpredictability",
"recurrence of HAE attacks",
"severe or potentially severe acute episodes",
"quicker recovery",
"quality of life",
"improvement ... | [
"Short- and long-term prophylaxis",
"treatment with C1-INH replacement or icatibant",
"Icatibant is a selective bradykinin B2 receptor antagonist",
"self-administration at home",
"earlier treatment of the attack",
"less emergency admittance",
"icatibant",
"reduction of emergency admissions"
] | null | null | null |
hae:31530337 | Long-term safety outcomes of prekillikrein (Fletcher factor) deficiency: A systematic literature review of case reports. | [
"Hereditary prekallikrein (Fletcher factor) deficiency is a rare condition characterized by a prolonged activated partial thromboplastin time. Inhibitors of plasma kallikrein have recently been approved for prophylaxis of hereditary angioedema and are under investigation for use in other indications.",
"We attemp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary prekallikrein (Fletcher factor) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"hereditary angioedema",
"cardiovascular",
"bleeding",
"autoimmune-related diseases",
"Autoimmune-related diseases",
"Graves disease",
"systemic lupus erythematosus"
] | null | [
"Cardiovascular comorbidities",
"hypertension",
"cerebrovascular ischemia or stroke",
"Excessive bleeding episodes after surgery",
"asymptomatic",
"infrequent reports of cardiovascular, bleeding, and autoimmune comorbidities"
] | [
"Inhibitors of plasma kallikrein",
"long-term inhibition of this pathway",
"surgery or dental extractions",
"plasma kallikrein inhibition"
] | null | [
"Hereditary prekallikrein (Fletcher factor) deficiency",
"prolonged activated partial thromboplastin time",
"hereditary prekallikrein deficiency",
"hereditaryprekallikrein deficiency (<10% of normal",
"shortening of activated partial thromboplastin time on increased incubationtime",
")",
"prekallikrein ... | [
"asymptomatic",
"no comorbidities",
"no complications",
"and comorbidities"
] |
hae:31526514 | [Postoperative angioedema induced by angiotensin-converting enzyme inhibitor: case report]. | [
"Angioedema is a potentially fatal condition that may occur at any time in the perioperative period. It may result from histamine release, hypersensitivity reaction to drugs, or be triggered by bradykinin, in non-allergic reactions of hereditary or acquired etiology. The aim of this report is to report a case of an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"angioedema",
"Angioedema"
] | null | [
"hypersensitivity reaction to drugs",
"bradykinin",
"hypertensive",
"angioedema",
"severe airway impairment",
"edema affecting the lips, tongue, and oropharyngeal region",
"angioedema",
"two similar episodes",
"affects the airway"
] | [
"antihypertensive medication involving angiotensin-converting enzyme inhibitors",
"taken enalapril maleate",
"orthopedic shoulder surgery",
"general anesthesia combined with brachial plexus block",
"discharge from the post-anesthesia care unit",
"Tracheal intubation",
"cricothyroidotomy",
"regular med... | [
"Afro-descendant"
] | [
"histamine release",
"bradykinin"
] | [
"non-allergic reactions of hereditary or acquired etiology",
"it was impossible",
"no causal relationship with the administration of any medication",
"no cutaneous manifestations",
"not response to therapy for hypersensitivity reaction to drugs, such as antihistamines, corticoid, and adrenaline"
] |
hae:31514794 | An 82-year-old man with recurrent angioedema. | [
"Angioedema is a potentially life-threatening swelling condition that can occur either in isolation or in the context of other syndromes, e.g., anaphylaxis. Angioedema is typically asymmetric, lasts for hours to days, is not gravity dependent, and is often nonpitting. Recurrent angioedema is typically associated wi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"anaphylaxis",
"acute angioedema",
"anaphylaxis",
"chronic urticaria with angioedema"
] | [
"hereditary C1 esterase inhibitor defects",
"acquired defects"
] | [
"life-threatening swelling condition",
"Angioedema",
"asymmetric",
"lasts for hours to days",
"nonpitting",
"Recurrent angioedema",
"histaminergic and bradykinin-mediated causes",
"isolated recurrent angioedema"
] | [
"medications such as angiotensin-converting-enzyme inhibitors"
] | null | null | [
"not gravity dependent",
"idiopathic"
] |
hae:31488451 | Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance. | [
"Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator brady... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema (AE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Angioedema (AE)",
"hereditary or acquired AE",
"BK-mediated AE"
] | [
"hereditary"
] | [
"life-threatening",
"recurrent AE",
"similarities to allergic reactions (swelling, abdominal pain, rash)",
"upper-airway AE"
] | [
"cricothyroidotomy"
] | null | [
"deficiency or malfunction of complement C1 esterase inhibitor",
"accumulation of the vasoactive mediator bradykinin (BK)",
"Complement C1 inhibitor normally decreases BK production",
"reduced function hereof",
"increased levels",
"acquired complement C1 esterase inhibitor deficiency"
] | [
"No associated comorbidities",
"antiallergic medication is not effective"
] |
hae:31303907 | [Marginal Féréol-Besnier erythema: rare manifestation during acute articular rhumatism]. | [
"This study reports the case of a 3-year old female child with a 1-year history of rash manifesting as discoid plaques with pink, non-itchy, rounded and oval, polycyclic, confluent macular areas measuring 1-3 cm in diameter, with central clearing evolving in stages, with repeated regression and reappearance. The ch... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study reports the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 3-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"infectious endocarditis due to valvular rheumatic heart disease",
"ringworm",
"urticaria",
"erythema due to hereditary angioedema"
] | null | [
"rash manifesting as discoid plaques with pink, non-itchy, rounded and oval, polycyclic, confluent macular areas measuring 1-3 cm in diameter, with central clearing evolving in stages",
"repeated regression and reappearance",
"respiratory distress",
"fever",
"aggravation of pre-existing skin lesions becomin... | [
"stabilization, antibiotic therapy",
"mitral valve surgery"
] | null | [
"inflammation with a CRP level of 300 mg/l and a sedimentation rate of 60 mm in the first hour",
"ASLO levels were very high (1600 IU/ml)"
] | null |
hae:31300605 | Acquired C1-inhibitor deficiency presenting with nephrotic syndrome. | [
"Acquired C1-inhibitor (C1-INH) deficiency is a rare and potentially life-threatening disorder, which presents with recurrent attacks of non-pitting oedema to the face, airway, limbs or gastrointestinal tract. It is often associated with underlying B-cell lymphoproliferative disorders. We describe a case of a 73-ye... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acquired C1-inhibitor (C1-INH) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"B-cell lymphoproliferative disorders",
"nephrotic syndrome",
"secretory lymphoplasmacytic lymphoma",
"B-cell lymphoma",
"lymphoproliferative malignancy"
] | null | [
"recurrent attacks of non-pitting oedema to the face, airway, limbs or gastrointestinal tract",
"nephrotic syndrome"
] | [
"treated with rituximab and bendamustine"
] | null | [
"Acquired C1-inhibitor (C1-INH) deficiency",
"acquired C1-INH deficiency",
"acquired C1-INH deficiency"
] | null |
hae:31236395 | Lupus enteritis as the only active manifestation of systemic lupus erythematosus: A case report. | [
"Lupus enteritis is a rare manifestation of systemic lupus erythematosus (SLE). Diagnosis of this condition is difficult, especially in the absence of other symptoms related to active SLE. We present the case of a 25-year-old female with lupus enteritis as the sole initial manifestation of active SLE.",
"A 25-yea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lupus enteritis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Lupus enteritis",
"systemic lupus erythematosus (SLE)",
"lupus enteritis",
"active SLE",
"intestinal angioedema",
"SLE enteritis",
"lupus enteritis",
"SLE"
] | null | [
"diffuse abdominal pain",
"diarrhea",
"nausea",
"vomiting",
"for 2 days",
"seasonal allergies",
"significant lower abdominal tenderness",
"marked circumferential wall thickening and edema of the proximal and mid small bowel predominantly involving the submucosa",
"mesenteric vein thrombosis",
"sig... | [
"maintained on bowel rest",
"given intravenous hydration",
"started on methylprednisolone 60 mg IV daily",
"2 days of treatment",
"Steroids were tapered",
"maintained on Hydroxychloroquine",
"High dose steroids"
] | [
"African American"
] | [
"elevated anti-nuclear antibodies (ANA) (13.6), anti-Smith antibody, and anti-ribonucleoprotein (anti-RNP) antibody"
] | [
"absence of other symptoms related to active SLE",
"vital signs",
"were normal",
"without guarding or rigidity",
"mesenteric vessels were patent",
"hereditary angioedema",
"normal C1 Esterase Inhibitor level and low C3 and C4 levels",
"Infectious work-up was negative",
"no relapses",
"non-specific... |
hae:31131012 | Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause. | [
"Hereditary angioedema (HAE) is a potentially life-threatening group of conditions that is often underdiagnosed or misdiagnosed. As HAE is typically diagnosed by detecting C1 inhibitor deficiency, there is a critical need for methods that can identify affected individuals with normal C1 inhibitor. The recent discov... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE of unknown genetic cause (HAE-U)",
"HAE-U",
"HAE",
"HAE",
"unexplained angioedema"
] | [
"associations between PLG K330E and ANGPT1 A119S",
"PLG K330E",
"PLG K330E variant",
"PLG K330E",
"PLG K330E"
] | [
"lip and tongue angioedema"
] | null | null | [
"C1 inhibitor deficiency"
] | [
"underdiagnosed or misdiagnosed",
"normal C1 inhibitor",
"unexplained angioedema",
"non-confirmatory laboratory testing",
"symptoms clinically attributed to allergy of unknown etiology",
"without wheals",
"did not respond to treatment with steroids or antihistamines",
"discontinuation of therapies ine... |
hae:31086646 | Catheter-based local analgesia for the fractured mandible in a patient with a history of hereditary angioedema. | [
"Hereditary angioedema is a rare genetic condition causing episodes of angioedema-including life-threatening laryngeal oedema. Episodes can be unpredictable, or triggered by factors such as trauma, drugs or dental treatment. When faced with a patient with a fractured mandible, who has had a severe attack of angioed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | [
"rare genetic condition"
] | [
"episodes of angioedema-",
"life-threatening laryngeal oedema",
"trauma",
"severe attack of angioedema"
] | [
"dental treatment",
"fractured mandible",
"prescribed either ibuprofen or codeine based analgesia",
"alternative approach to analgesia",
"catheter and local anaesthesia"
] | null | null | [
"pain free"
] |
hae:31058156 | Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review. | [
"Abdominal pain due to intestinal swellings is one of the most common manifestations in hereditary angioedema (HAE). Bowel swellings can cause severe abdominal pain, nausea, vomiting, and diarrhea, which may lead to misdiagnosis of gastrointestinal disorders. In rare cases, HAE abdominal attacks can be accompanied ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Abdominal pain due to intestinal swellings\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"hereditary angioedema (HAE)",
"gastrointestinal disorders",
"acute pancreatitis",
"HAE",
"acute pancreatitis",
"HAE",
"HAE",
"F12-HAE)",
"Pancreatitis",
"HAE",
"acute pancreatitis",
"HAE type I",
"F12-HAE",
"Pancreatitis",
"pancreatitis",
"HAE",
"F12-HAE",
"pancreatitis",
"HAE-a... | null | [
"Abdominal pain due to intestinal swellings",
"Bowel swellings",
"severe abdominal pain",
"nausea",
"vomiting",
"diarrhea",
"HAE abdominal attacks",
"clinical symptoms",
"severe abdominal swelling episodes",
"pain relief within hours",
"pancreatitis pain",
"severe abdominal HAE attacks"
] | [
"Icatibant",
"conservatively treated",
"invasive procedures",
"HAE-specific treatments",
"Icatibant"
] | null | [
"C1-inhibitor (C1-INH) deficiency",
"high lipase and amylase levels",
"increased amylase levels",
"C1-INH deficiency"
] | [
"normal C1-INH and F12 mutation"
] |
hae:30923640 | Identification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema Patient. | [
"We report a heterozygous, 2,009 base pairs (bps) genomic DNA deletion within the SERPING1 gene that has not previously been reported in a case of type I hereditary angioedema (HAE). The patient is a 28-year-old Han Chinese female living in Hong Kong who has suffered from recurrent angioedema since adolescence, wit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous, 2,009 base pairs (bps) genomic DNA deletion within the SERPING1 gene\n <span sty... | [
"type I hereditary angioedema (HAE)",
"HAE",
"HAE type I"
] | [
"heterozygous, 2,009 base pairs (bps) genomic DNA deletion within the SERPING1 gene",
"mutation in the serine protease inhibitor, clade G, member 1 (SERPING1) gene",
"small deletion within SERPING1 or a truncated transcript",
"2,009 bps deletion spanning across exons 5 and 6 within SERPING1",
"large DNA del... | [
"recurrent angioedema",
"affected areas are not itchy and include common sites such as the left and right forearms",
"epigastric pain",
"larger in size between 4 and 6 kbps"
] | null | [
"Han Chinese",
"Hong Kong"
] | null | [
"without throat involvement"
] |
hae:30918175 | Hereditary Angioedema Type 1 with Recurrent Dizziness. | [
"A 41-year-old woman presented with recurrent dizziness. After an attack of dizziness, she felt edematous sensations in her hands. However, according to photographs taken during the attack, the edema on the back of the patient's hands and fingers appeared mild. Laboratory examinations revealed a low C4 and C1 inhib... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 41-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioedema (HAE) type 1",
"HAE"
] | [
"pathogenic gene mutation"
] | [
"recurrent dizziness",
"dizziness",
"edematous sensations in her hands",
"the edema on the back of the patient's hands and fingers appeared mild",
"recurrent dizziness",
"recurrent neurologic symptoms"
] | null | null | [
"low C4 and C1 inhibitor (INH) activity"
] | [
"absence of severe edema"
] |
hae:30883234 | Anesthetic Management of a Patient With Hereditary Angioedema for Oral Surgery. | [
"Hereditary angioedema (HAE) is a rare genetic disease that results from deficiency or dysfunction of C1 inhibitor (C1-INH). This disease is characterized by sudden attacks of angioedema. When edema occurs in the pharynx or larynx, it can lead to serious airway compromise, including death. Physical and/or psycholog... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE"
] | [
"rare genetic disease"
] | [
"sudden attacks of angioedema",
"edema occurs in the pharynx or larynx",
"serious airway compromise",
"death",
"psychological stress"
] | [
"Dental treatment",
"tooth extraction",
"impacted third molar extractions",
"C1-INH concentrate was administered 1 hour before surgery",
"deep intravenous sedation",
"anesthetic management"
] | null | [
"deficiency or dysfunction of C1 inhibitor (C1-INH)"
] | null |
hae:30837234 | New approach in prophylactic treatment of a challenged HAE patient. | [
"Hereditary angioedema (HAE) is a relapsing swelling disorder which can cause severe pain, affect quality of life and potentially be life threatening with involvement of the airways. We present a 34-year-old immigrant who suffered from very frequent and severe HAE attacks. The attacks often involved the face, mouth... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"relapsing swelling disorder",
"HAE"
] | null | [
"severe pain",
"affect quality of life",
"life threatening",
"involvement of the airways",
"very frequent and severe HAE attacks",
"involved the face, mouth and the airways"
] | [
"off-label treatment with prophylactic subcutaneous complement C1-inhibitor concentrate",
"medication which works prophylactically and is administered orally or subcutaneously"
] | [
"immigrant"
] | null | [
"traditional therapy for HAE was not successful treating",
"not been hospitalised"
] |
hae:30622569 | Melkersson-Rosenthal syndrome: a case report of a rare disease with overlapping features. | [
"Melkersson-Rosenthal syndrome (MRS) is a rare, neuro-mucocutaneous disease which presents as orofacial swelling, facial palsy and fissured tongue. These symptoms may occur simultaneously or, more frequently, with a oligosymptomatic or monosymptomatic pattern. Swelling, that is the most common initial finding, may ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Melkersson-Rosenthal syndrome (MRS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Melkersson-Rosenthal syndrome (MRS)",
"neuro-mucocutaneous disease",
"hereditary or acquired angioedema",
"MRS",
"chronic inflammatory and infective diseases",
"rosacea",
"contact dermatitis",
"allergic reactions",
"Bell's palsy",
"herpes simplex or varicella-zoster virus infection",
"Melkersso... | null | [
"orofacial swelling",
"facial palsy",
"fissured tongue",
"oligosymptomatic or monosymptomatic pattern",
"Swelling",
"monolateral facial paraesthesia",
"lower lip edema",
"temporary remission of symptoms",
"swelling recurrence",
"rather non-specific symptoms",
"recurrent angioedema"
] | [
"oral steroids and antihistamines",
"therapy with tranexamic acid and the leukotriene receptor antagonist montelukast",
"targeted therapy"
] | null | [
"histamine or bradykinin-mediated plasma-leakage affecting subcutaneous and/or submucosal tissue",
"low plasma levels of C3 and C4",
"parallel detection of antiphospholipid antibodies",
"complement or immune alterations"
] | [
"non-allergic",
"no familial and personal history of angioedema",
"refractory to valaciclovir therapy and a subsequent course of antihistamines",
"previous history of non-Hodgkin lymphoma",
"rule out an acquired form of paraneoplastic, C1-inhibitor (C1-INH) deficiency",
"C1q and both antigen and functiona... |
hae:30567241 | Wolf in the sheep's clothing: intestinal angioedema mimicking infectious colitis. | [
"Hereditary angioedema (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of gastroenteritis like vomiting, diarrhoea and abdominal pain. Here, we present a unique case of a less recognised type ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"type of HAE",
"type III",
"intestinal angioedema",
"type III HAE-induced intestinal angioedema",
"HAE"
] | null | [
"life-threatening airway or intestinal oedema",
"gastroenteritis",
"vomiting",
"diarrhoea",
"abdominal pain",
"signs and symptoms consistent with infectious colitis"
] | null | null | null | [
"previously had similar episodes",
"managed multiple times with antibiotics, with no satisfactory response"
] |
hae:30504393 | Chemotherapy in Patients with Hereditary Angioedema. | [
"Hereditary angioedema (HAE) is an autosomal dominant hereditary disorder characterized by episodic swelling of many body regions (especially throat and abdomen), potentially triggered by medication. No data are available for HAE in patients with cancer assigned to standard chemotherapy. The aim of our study was to... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"cancer",
"type 2 HAE",
"HAE",
"acute HAE crisis"
] | [
"autosomal dominant hereditary disorder"
] | [
"episodic swelling of many body regions (especially throat and abdomen)",
"acute HAE attacks",
"HAE attacks",
"stress"
] | [
"medication",
"standard chemotherapy",
"chemotherapy",
"standard adjuvant oxaliplatin/fluorouracil-based chemotherapy",
"stage III radically resected rectal cancer",
"Pre-medication with 1,000 U Berinert inhibitor C1 was administered every week throughout treatment",
"forth cycle of treatment",
"chemo... | null | [
"circulating mediators",
"Pre-chemotherapy values of tested variables",
"were: C3: 101 mg/dl, C4: 5.71 mg/dl, CH50: 74%, C1 inhibitor: 43.4 mg/dl, C1-inhibitor functional: 18%, C1Q: 150 mg/dl, and D-dimers: 113 g/ml",
"significant change in circulating values was observed for C3, D-dimers and C1-inhibitor fun... | null |
hae:30510820 | Hereditary Angioedema Type II: First Presentation in Adulthood with Recurrent Severe Abdominal Pain. | [
"A 27-year-old Emirate man presented to Cleveland Clinic Abu Dhabi emergency department with a 4 year history of recurrent episodes of severe swellings affecting different parts of his body. He used to get 2 swelling episodes every week affecting either his face, hands, feet or scrotum and severe abdominal pain twi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 27-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"HAE type II",
"HAE"
] | null | [
"recurrent episodes of severe swellings affecting different parts of his body",
"2 swelling episodes every week affecting either his face, hands, feet or scrotum",
"severe abdominal pain",
"bowel wall oedema",
"symptoms resolved",
"recurrent unexplained abdominal pain"
] | [
"danazol 100 mg twice daily"
] | [
"Emirate"
] | null | [
"no family history of similar complaint",
"or of hereditary angioedema (HAE)",
"absence of positive family history of HAE"
] |
hae:30425862 | Consequences of Misdiagnosed and Mismanaged Hereditary Angioedema Laryngeal Attacks: An Overview of Cases from the Romanian Registry. | [
"Emergency department (ED) physicians frequently encounter patients presenting with angioedema. Most of these involve histamine-mediated angioedema; however, less common forms of angioedema (bradykinin-mediated) also occur. It is vital physicians correctly recognize and treat this; particularly since bradykinin-med... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Emergency department (ED) physicians\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"angioedema",
"histamine-mediated angioedema",
"angioedema (bradykinin-mediated)",
"bradykinin-mediated angioedema",
"hereditary angioedema (HAE",
"HAE",
"angioedema",
"HAE attacks",
"Bradykinin-mediated angioedema",
"histamine-mediated form",
"HAE"
] | null | [
"laryngeal attacks",
"fatal",
"laryngeal edema",
"asphyxiation",
"death",
"life-threatening laryngeal edema",
"fatalities",
"laryngeal edema"
] | null | null | null | [
"does not respond to antihistamines, corticosteroids or epinephrine",
"failures in"
] |
hae:30390279 | Lethal manifestations of angioedema. | [
"An 86-year-old woman with a history of angioedema was found dead at her home address. She had recently complained of a swollen tongue. At autopsy the tongue was grossly edematous, protruding from the mouth. There was also marked edema of the tonsillar fossae, epiglottis and glottic inlet, causing critical obstruct... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 86-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"angioedema",
"Angioedema",
"ischemic heart disease"
] | [
"inherited",
"hereditary variants",
"SERPING1 gene and F12 gene/THR328 mutations"
] | [
"dead",
"swollen tongue",
"tongue was grossly edematous, protruding from the mouth",
"marked edema of the tonsillar fossae, epiglottis and glottic inlet",
"critical obstruction",
"marked submucosal edema",
"Death",
"upper airway obstruction",
"angioedema of the tongue, oropharynx and glottic inlet",... | null | null | null | null |
hae:30386388 | The physician and hereditary angioedema friend or foe: 62-year diagnostic delay and iatrogenic procedures. | [
"Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease characterized by episodes of acute subcutaneous swelling, and/or recurrent severe abdominal pain. The disease is potentially fatal if the upper-airway is involved. Iatrogenic harm can occur if HAE is not consider... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema due to C1 inhibitor deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Hereditary angioedema due to C1 inhibitor deficiency",
"(C1-INH-HAE)",
"HAE",
"HAE",
"C1-INH-HAE",
"C1-INH-HAE type 1 in her son and his grandfather",
"HAE",
"angioedema",
"HAE"
] | [
"rare autosomal dominant disease"
] | [
"episodes of acute subcutaneous swelling",
"recurrent severe abdominal pain",
"fatal",
"the upper-airway is involved",
"Iatrogenic harm",
"recurrent abdominal pain",
"Infrequent subcutaneous swellings",
"recurrent, acute, severe but medically unexplained abdominal pain",
"cutaneous swellings",
"ab... | [
"frequent emergency department visits",
"three emergency surgical interventions",
"5 endoscopies",
"surgical interventions"
] | null | [
"measurement of C1-INH and C4"
] | [
"unnecessary surgical and other iatrogenic interventions",
"unknown allergic reactions",
"abdominal pain",
"but was ignored"
] |
hae:30386386 | Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen. | [
"Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE) is a rare disease sharing some clinical and laboratory similarities with hereditary angioedema, but with late onset and no positive family history. The underlining cause may be malignant or due to autoimmune diseases, but some cases remain idiopath... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE)\n <span style=\"font-size: 0.8em; font-... | [
"Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE)",
"hereditary angioedema",
"malignant",
"autoimmune diseases",
"idiopathic",
"rare angioedema",
"angioedema"
] | null | [
"sharing some clinical and laboratory similarities",
"recurrent episodes of angioedema",
"angioedema attacks",
"first facial and laryngeal edema",
"prompt remission of angioedema",
"danazol side effects",
"late onset of C1-INH deficiency causal disease"
] | [
"treatment with angiotensin-converting-enzyme inhibitors (ACEI)",
"discontinuation of ACEI",
"daily prophylactic treatment with tranexamic acid, with no amelioration after 3 months",
"switched to attenuated androgen danazol",
"2 weeks of daily danazol use",
"3 years of continuous treatment with low daily ... | null | [
"C1 inhibitor esterase (C1-INH) deficiency",
"C1-INH and complement fraction C4 plasma levels were significantly decreased at all measurements",
"significant increase of C1-INH and C4 plasma levels",
"C1-INH and C4 plasma levels",
"acquired deficiency of C1-inhibitor",
"C1-INH deficiency"
] | [
"no positive family history",
"extended medical evaluation for inflammatory, allergic, autoimmune and neoplasic diseases was negative",
"no diagnostic criteria for diseases known to induce C1-INH deficiency could be found",
"no angioedema attack",
"no clear cause after long follow-up"
] |
hae:30301875 | Non-Surgical Management of Colo-Colonic Intussusception in Patients with Hereditary Angioedema. | [
"BACKGROUND Hereditary angioedema (HAE) is an autosomal disease caused either by deficiency or presence of a non-functioning C1 inhibitor. The lack or non-functionality of said inhibitors leads to activation of an inflammatory cascade, which result in cutaneous and mucosal edema. Most patients with HAE present with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">BACKGROUND \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"autosomal disease"
] | [
"cutaneous and mucosal edema",
"cutaneous, laryngeal/pharyngeal, or gastrointestinal exacerbations",
"gastrointestinal",
"intussusception",
"4-day history of episodic abdominal pain",
"worsening during the last 2 days",
"nausea",
"vomiting",
"bright red blood per rectum",
"elongated region of hypo... | [
"invasive/surgical management",
"conservatively, with 30 mg of ecallantide and a unit of fresh frozen plasma (FFP)",
"administration of fresh frozen plasma",
"kept under hospital care for the next 4 days",
"adequate progression of diet",
"invasive/surgical procedures",
"conservative management",
"with... | [
"Hispanic"
] | [
"deficiency or presence of a non-functioning C1 inhibitor",
"lack or non-functionality of said inhibitors",
"activation of an inflammatory cascade"
] | [
"without recurrence of intussusception"
] |
hae:30287627 | Hereditary angioedema: a mother diagnosing her child using Google as a diagnostic aid. | [
"Hereditary angioedema (HAE), due to C1-inhibitor deficiency, is a rare autosomal dominant and potentially life-threatening disease characterised by recurrent oedema attacks of skin, mucosa and viscera. Due to the rarity and the fact that symptoms of HAE imitate other forms of angioedema and other conditions, HAE m... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"rare autosomal dominant"
] | [
"recurrent oedema attacks of skin, mucosa and viscera",
"angioedema"
] | null | null | [
"C1-inhibitor deficiency"
] | [
"not receive proper treatment"
] |
hae:30262249 | Mucosal Injury From Calcium Oxalate Crystals Resembling Anaphylaxis and Angioedema. | [
"There are 215 families of plants that contain insoluble needle-shaped calcium oxalate crystals on the surface of their tissues. Upon mucosal contact, injury can cause extreme pain, soft-tissue swelling, salivation, dysphagia, and even aphonia. This presentation can resemble angioedema or anaphylaxis.",
"A 55-yea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are 215 families of plants that contain \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n insoluble needle-shaped calcium oxalate crystals on the surface... | [
"angioedema",
"Injury by calcium oxalate crystals",
"hereditary and drug-induced angioedema",
"insoluble calcium oxalate crystal exposure",
"angioedema"
] | null | [
"mucosal contact",
"injury",
"extreme pain",
"soft-tissue swelling",
"salivation",
"dysphagia",
"aphonia",
"anaphylaxis",
"oral pain",
"swelling",
"numbness",
"sharp pain of the tongue and lips",
"eating \"elephant root",
"sitting in an upright position",
"leaning forward",
"pooling se... | [
"taking lisinopril for hypertension",
"emergent therapies",
"airway management",
"local anesthetic, corticosteroids, opioids, and antihistaminergic agents",
"sodium bicarbonate rinse",
"adjunct therapy"
] | [
"Asian"
] | null | [
"unable to speak and swallow",
"vitals remained within normal limits",
"benign",
"anaphylaxis"
] |
hae:30210953 | Drug-induced Angioedema: A Rare Side Effect of Rosuvastatin. | [
"Hydroxymethyl glutaryl coenzyme A reductase inhibitors (statins) are first-line medication for lowering serum cholesterol levels in the prevention of cardiovascular disease. Angioedema is the swelling of mucosa and submucosal tissue. There are no published cases of drug-induced angioedema involving rosuvastatin. W... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hydroxymethyl glutaryl coenzyme A reductase inhibitors (statins)\n <span style=\"font-size: 0.8em; font-we... | [
"cardiovascular disease",
"Angioedema",
"drug-induced angioedema",
"angioedema"
] | null | [
"swelling of mucosa and submucosal tissue",
"episodes of self-resolving edema of face, lips, and tongue",
"angioedema",
"prompt resolution of symptoms after the drug discontinued"
] | [
"Hydroxymethyl glutaryl coenzyme A reductase inhibitors (statins)",
"rosuvastatin",
"rosuvastatin",
"rosuvastatin",
"rosuvastatin"
] | null | [
"lowering serum cholesterol levels",
"complement component 4 (C4), C1 esterase inhibitor, and complement component 1q (C1q) binding assay were within normal range"
] | [
"denied any rash during these episodes",
"self-medication with diphenhydramine did not relieve her symptoms",
"hemodynamically stable",
"the diagnosis of hereditary angioedema was effectively ruled out"
] |
hae:30146609 | Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema. | [
"A diagnosis of hereditary angioedema is usually made with recurrent episodes of swelling of the subcutaneous tissue with a family history. We herein report a case in which recurrent acute abdomen was the main manifestation of hereditary angioedema. A 45-year-old womon presented with a 10-year history of recurrent ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"Hereditary angioedema"
] | [
"heterozygous nonsense mutation of the SERPING1 gene"
] | [
"recurrent episodes of swelling of the subcutaneous tissue",
"recurrent acute abdomen",
"recurrent severe abdominal pain",
"remarkable submucosal edema of the ileum",
"recurrent acute abdomen"
] | null | null | [
"grossly reduced complement C4 and CH50",
"deficiency of C1-inhibitor"
] | null |
hae:30131260 | Repeated attacks of type III hereditary angioedema with factor XII mutation during pregnancy. | [
"In type III hereditary angioedema (HAE type III), the phenotype is the same as type I and type II disease, but the level and function of C1-esterase inhibitor (C1-INH) is normal. Hereditary angioedema type III has been described as an oestrogen-sensitive form because it can be triggered or aggravated by exposure t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type III hereditary angioedema (HAE type III)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"type III hereditary angioedema (HAE type III)",
"type I and type II disease",
"Hereditary angioedema type III",
"pregnancy",
"HAE",
"pregnancy"
] | [
"Factor XII mutation",
"mis-sense mutation of factor XII"
] | [
"exposure to high oestrogen levels",
"pregnancy",
"repeated angioedema attacks"
] | null | null | null | [
"level and function of C1-esterase inhibitor (C1-INH) is normal",
"normal levels and function of C1-INH (type III)"
] |
hae:30118244 | A hereditary angioedema screening on an index case: Turkey. | [
"Hereditary angioedema (HAE) is characterised by recurrent episodes of angioedema and can be fatal.",
"The present study aimed to screen HAE.",
"A total of 60 individuals were screened. The frequency and severity of symptoms were scored from 0 to 8. Measurements were taken of C4 and C1 esterase inhibitor protei... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"Type 1 HAE",
"HAE",
"HAE"
] | [
"Mutation in the C1 inhibitor gene",
"heterozygous c. 601A > T nonsense variant was identified at the C1 esterase inhibitor gene-SERPING1-"
] | [
"recurrent episodes of angioedema",
"fatal"
] | null | null | [
"positive correlation between the C1 esterase inhibitor protein levels and C4 level",
"the C1 esterase inhibitor protein level",
"the C4 level",
"positive correlation between the C1 esterase inhibitor protein level and C4 levels"
] | null |
hae:29957967 | The Incidence and Frequency of Various Causes of Angioedema in Emergency Medicine. | [
"Angioedema (AE) is a potentially life-threatening event. We investigated the etiology of AE, with the emphasis on bradykinininduced angioedema treatment in emergency medicine.",
"The retrospective study included 237 patients with AE, who were examined and treated in two hospitals (group A and B) in Croatia from ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema (AE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Angioedema (AE)",
"AE",
"AE",
"AE",
"Bradykinin-induced AE (hereditary angioedema (HAE) and RAAS-AE)",
"RAAS-AE",
"AE",
"gastroesophageal reflux disease",
"neoplasms",
"idiopatic",
"Bradykinin-mediated AE",
"AE",
"HAE",
"RAAS-AE"
] | null | [
"potential causative agents (food, drugs, insect bites and chemicals)",
"HAE attacks",
"insect bites"
] | [
"bradykinininduced angioedema treatment",
"Renin-angiotensin-aldosterone system (RAAS) blocker induced AE",
"glucocorticoids and antihistamines",
"specific therapy",
"use of antibiotics/analgetics",
"hospitalized",
"C1 esterase inhibitor concentrate or bradykinin receptor antagonist"
] | [
"Croatia"
] | null | null |
hae:29951963 | Acquired angioedema in juvenile systemic lupus erythematosus: case-based review. | [
"An acquired form of angioedema that is clinically similar but scarcer than the hereditary form may be caused, even more rarely, by the presence of an underlying autoimmune disease. We report a previously healthy 16-year-old girl with an acquired angioedema as a rare and initial presentation of systemic lupus eryth... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acquired form of angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"autoimmune disease",
"systemic lupus erythematosus",
"systemic lupus erythematosus",
"autoimmunity",
"systemic lupus erythematosus",
"associated with systemic lupus erythematosus"
] | null | [
"acquired form of angioedema",
"acquired angioedema",
"polyarthralgia",
"angioedema",
"edema",
"new-onset angioedema",
"acquired angioedema"
] | [
"high-dose methylprednisolone and hydroxychloroquine slowly"
] | null | [
"leucopenia",
"positivity of immunologic criteria"
] | [
"no previous angioedema attack",
"no family history",
"did not have any chronic diseases",
"did not use any medicine regularly"
] |
hae:29737365 | [Anaphylactic reaction to camomile tea]. | [
"The case of a man with type I allergy after the intake of camomile tea is presented. About 30 min after consumption he was hospitalised with palmar pruritus, swelling of the eyelids, upper lip and nasal mucosa as well as narrowness of the throat. Hereditary angioedema was excluded. The skin prick test confirmed th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"type I allergy",
"type I allergy due to camomile tea"
] | null | [
"palmar pruritus",
"swelling of the eyelids, upper lip and nasal mucosa",
"narrowness of the throat"
] | [
"intake of camomile tea"
] | null | null | [
"Hereditary angioedema was excluded"
] |
hae:29709957 | Suffocation due to Acute Airway Edema in a Patient with Hereditary Angioedema Highlighted the Need for Urgent Improvements in Treatment Availability in Japan. | [
"A 42-year-old Japanese man with hereditary angioedema suffered accidental trauma to his jaw in Shizuoka Prefecture, Japan, which gradually caused facial edema. Since plasma-derived human C1 inhibitor (pdh C1-INH) was unavailable, he had to be transferred to Juntendo University Hospital in Tokyo. Due to his severe ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 42-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioedema"
] | null | [
"accidental trauma to his jaw",
"facial edema",
"severe edema",
"asphyxiation",
"cardiopulmonary arrest"
] | [
"resuscitated",
"promptly treated with pdh C1-INH",
"self-administration of pdh C1-INH"
] | [
"Japanese",
"Shizuoka Prefecture",
"Japan",
"Tokyo",
"Japan",
"Japan"
] | null | [
"plasma-derived human C1 inhibitor (pdh C1-INH) was unavailable",
"stocks of pdh C1-INH"
] |
hae:29673745 | [Acquired C1 esterase inhibitor deficiency via bradykinin-mediated angioedema: Four cases]. | [
"Acquired C1-esterase inhibitor (C1-INH) deficiency angioedema (C1-INH-AAE) is a form of bradykinin-mediated angioedema. This rare disorder is due to acquired consumption of C1-INH, hyperactivation of the classic pathway of human complement, and potentially fatal recurrent angioedema symptoms. Clinical symptoms of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acquired C1-esterase inhibitor (C1-INH) deficiency angioedema (C1-INH-AAE)\n <span style=\"font-size: 0.8e... | [
"bradykinin-mediated angioedema",
"C1-INH-AAE",
"hereditary angioedema (HAE)",
"AAE",
"HAE",
"hematologic malignancies",
"lymphoproliferative disorders",
"Angioedema",
"Hematologic malignancy",
"chronic lymphoid leukemia",
"indolent marginal zone non-Hodgkin lymphoma",
"monoclonal gammopathy",... | null | [
"potentially fatal recurrent angioedema symptoms",
"abdominal pain",
"revelation"
] | [
"angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs)",
"ACE inhibitors or ARBs"
] | [
"France"
] | [
"Acquired C1-esterase inhibitor (C1-INH) deficiency angioedema (C1-INH-AAE)",
"acquired consumption of C1-INH",
"hyperactivation of the classic pathway of human complement",
"low levels or abnormal structure and function of C1-INH",
"C1-INH autoantibodies",
"C1q is reduced",
"C1-INH-AAE",
"C1 INH anti... | [
"not necessarily indicate a diagnosis of ACE or ARBs angioedema"
] |
hae:29666724 | In Vitro Fertilization Using Luteinizing Hormone-Releasing Hormone Injections Resulted in Healthy Triplets without Increased Attack Rates in a Hereditary Angioedema Case. | [
"Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The management of pregnant patients with C1-INH-HAE is a challenge for the physician. Intravenous plasma-derived nanofiltered C1-INH (pdC1INH) is the only recommended option throughout pregnancy, postpartum, a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE)\n <span style=\"font-size: 0.8em; font-w... | [
"Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE)",
"C1-INH-HAE",
"C1-INH-HAE",
"C1-INH-HAE type 1",
"pregnancy trimesters",
"C1-INH-HAE",
"pregnancy"
] | [
"autosomal dominant disorder"
] | [
"edema attacks"
] | [
"Intravenous plasma-derived nanofiltered C1-INH (pdC1INH)",
"pregnancy",
", and breastfeeding period",
"fertilization therapies increasing endogen levels of estrogens",
"taking danazol 50-200 mg/day for 9 years",
"danazol was discontinued",
"PdC1INH",
"prophylactic purpose",
"Triplet pregnancy",
"... | null | null | [
"without causing any severe attack during in vitro fertilization",
"Angioedema did not worsen during pregnancy and delivery",
"without any angioedema attacks"
] |
hae:29607870 | Usefulness of C1 esterase inhibitor protein concentrate in the management of hereditary angioedema of oropharyngeal tissue. | [
"Hereditary angioedema is an autosomal-dominant disorder caused by mutation of the gene encoding the C1 esterase inhibitor (C1-INH). It manifests as painless, nonpruritic, nonpitting episodic swelling of the subcutaneous tissues, gastrointestinal, and upper respiratory tracts in the absence of urticaria. An attack ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | [
"autosomal-dominant disorder",
"mutation of the gene encoding the C1 esterase inhibitor (C1-INH)"
] | [
"painless, nonpruritic, nonpitting episodic swelling of the subcutaneous tissues, gastrointestinal, and upper respiratory tracts",
"laryngeal attack associated with upper airway swelling",
"mild-to-moderate dyspnea",
"swelling of the upper airway (larynx) and tongue"
] | [
"lifesaving use of a novel C1-INH protein concentrate"
] | null | null | [
"absence of urticaria"
] |
hae:29590444 | Extremely Delayed Diagnosis of Type II Hereditary Angioedema: Case Report and Review of the Literature. | [
"We present a case with extremely late diagnosis of type II hereditary angioedema (HAE). Given recent advances in HAE treatment, we want to bring physician awareness to this condition and aid in earlier detection. HAE is a disorder associated with episodes of angioedema of the face, larynx, lips, abdomen, or extrem... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a case with extremely late diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type II hereditary angioedema (HAE)\n <span style=\"fon... | [
"type II hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE",
"recurrent pancreatitis",
"appendicitis",
"HAE"
] | null | [
"episodes of angioedema of the face, larynx, lips, abdomen, or extremities",
"recurring attacks",
"Gastrointestinal symptoms",
"recurrent attacks of subcutaneous and submucosal edema",
"unexplained abdominal symptoms",
"recurrent attacks of unexplained abdominal pain"
] | [
"HAE treatment"
] | null | null | [
"misdiagnosed as disease of primary gastrointestinal pathology",
"irritable bowel syndrome",
"without the presence of urticaria"
] |
hae:29343682 | Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight. | [
"C1-inhibitor is a serine protease inhibitor (serpin) controlling complement and contact system activation. Gene mutations result in reduced C1-inhibitor functional plasma level causing hereditary angioedema, a life-threatening disorder. Despite a stable defect, the clinical expression of hereditary angioedema is u... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n C1-inhibitor\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"hereditary angioedema",
"life-threatening disorder",
"hereditary angioedema"
] | [
"Gene mutations",
"Arg378Cys C1-inhibitor mutant",
"Arg378Cys C1-inhibitor",
"acquired cysteine leads to the formation of non-functional homodimers through inter-molecular disulphide bonding"
] | null | null | null | [
"C1-inhibitor",
"serine protease inhibitor (serpin) controlling complement and contact system activation",
"reduced C1-inhibitor functional plasma level",
"reduced C1-inhibitor levels",
"normalization",
"drop in mutant C1-innhibitor secretion compared to",
"plasma level variability"
] | null |
hae:29303100 | [Vulvar angioedema during pregnancy]. | [
"Angioedema is a condition of acute and extensive fluid accumulation in skin or mucosae due to increased blood vessel permeability. Angioedema can have several causes, including pregnancy.",
"A healthy 33-year-old pregnant woman had acute, substantial swelling of the labia minora with no other symptoms. Based on ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"Angioedema",
"pregnancy",
"angioedema"
] | null | [
"acute and extensive fluid accumulation in skin or mucosae",
"increased blood vessel permeability",
"acute, substantial swelling of the labia minora",
"swelling spontaneously disappeared within 2 weeks",
"swelling disappeared on its own"
] | null | null | null | [
"no other symptoms",
"Laboratory testing did not find any C1 inhibitor deficiency",
"hereditary angioedema was excluded",
"the cause of the angioedema could not be found"
] |
hae:29249111 | [Hereditary angioedema by C1 inhibitor-deficit: Diagnostic and therapeutic challenges. Case report]. | [
"Hereditary angioedema is a disease which manifests itself with episodes of spontaneous edema on skin, mucosal and airway. Treatment includes acute and prophylactic approach to minimize the attacks and severity. In many parts of the world, androgen derivatives, antifibrinolytic and fresh frozen plasma are the thera... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | null | [
"episodes of spontaneous edema on skin, mucosal and airway",
"repetitive episodes of painless, non-pruritic angioedema",
"exacerbating episode with severity",
"with subsequent episodes decreased"
] | [
"acute and prophylactic approach",
"androgen derivatives, antifibrinolytic and fresh frozen plasma",
"prophylaxis",
"fresh frozen plasma",
"prophylactic therapy with Danazol",
"long-term prophylactic treatment",
"androgens"
] | null | [
"deficit of C1 Inhibitor (7.1 μg/mL)"
] | [
"without history of immune decease",
"does not respond to antihistamine therapy, corticosteroids or adrenaline"
] |
hae:29093422 | Comparison of the Frequency of Angioedema Attack, before and during Pregnancy, in a Patient with Type I Hereditary Angioedema. | [
"The patient was a 38-year-old Japanese woman who had been diagnosed with hereditary angioedema type I at 7 years of age based on her family history. She had undergone four pregnancies. She gave birth to a healthy baby girl after her first pregnancy and had reported few episodes of angioedema. However, she subseque... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The patient was a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 38-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"hereditary angioedema type I",
"hereditary angioedema (HAE)"
] | null | [
"few episodes of angioedema",
"angioedema episodes that occurred during her three subsequent pregnancies",
"two clinical pregnancy courses",
"symptoms of angioedema disappeared",
"frequent angioedema attacks",
"pregnancy"
] | [
"undergone four pregnancies",
"gave birth to a healthy baby girl after her first pregnancy",
"abortions",
"C1-inhibitor concentrate",
"preventive use of C1 inhibitor concentrates"
] | [
"Japanese"
] | null | null |
hae:29070276 | Multiple doses of icatibant used during pregnancy. | [
"Hereditary angioedema (HAE) is a life-long disease that often manifests by puberty. Treatment of attacks is essential to improve quality of life and to decrease morbidity and mortality. During pregnancy, treatment is limited because multiple treatment options, including icatibant, are not approved for use during p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"pregnancy",
"pregnancy",
"HAE",
"pregnancy",
"pregnancies",
"pregnancy"
] | null | [
"developmentally normal",
"born prematurely",
"continued meeting developmental milestones",
"drug adverse events"
] | [
"icatibant",
"pregnancies",
"icatibant",
"icatibant use",
"treated herself with icatibant during three separate pregnancies",
"icatibant use",
"pregnancy",
"administered multiple doses of icatibant during three pregnancies",
"child born from the first pregnancy and the child from the third pregnancy... | null | null | [
"normal C1-inhibitor",
"treatment of attacks",
"without congenital anomalies",
"without adverse events",
"no birth defects"
] |
hae:28986975 | Complete kinetic follow-up of symptoms and complement parameters during a hereditary angioedema attack. | [
"We studied the kinetics of C1-inhibitor (C1-INH) and other complement parameters in a self-limited edematous attack (EA) in a patient with hereditary angioedema due to C1-INH deficiency to better understand the pathomechanism of the evolution, course, and complete resolution of EAs. C1-INH concentration and functi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n kinetics of C1-inhibitor (C1-INH) and other complement parameters\n <span style=\"font-size... | [
"hereditary angioedema",
"EAs",
"EAs"
] | null | [
"self-limited edematous attack (EA)"
] | null | null | [
"kinetics of C1-inhibitor (C1-INH) and other complement parameters",
"C1-INH deficiency",
"C1-INH concentration and functional activity (C1-INHc+f), C1(q,r,s), C3, C4, C3a, C4a, C5a, and SC5b-9 levels were measured in blood samples obtained during the 96-hour observation period",
"The highest C1-INHc+f , C4, ... | null |
hae:28939396 | Novel Therapies for Angiotensin-Converting Enzyme Inhibitor-Induced Angioedema: A Systematic Review of Current Evidence. | [
"Angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema can occur at any point during therapy and, when severe, can require mechanical ventilation. Standard agents for anaphylactic reactions have limited efficacy for bradykinin-mediated angioedema and, therefore, agents approved for hereditary angioedema... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema\n <span style=\"font-size: 0.8em; font-w... | [
"hereditary angioedema",
"ACEI-induced angioedema",
"ACEI-induced angioedema",
"hereditary angioedema",
"ACEI-induced angioedema",
"hereditary angioedema"
] | null | [
"decreased time to symptom resolution",
"cessation in symptom progression",
"low potential for adverse reactions",
"limiting the progression of angioedema"
] | [
"Angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema",
"mechanical ventilation",
"fresh frozen plasma (FFP), prothrombin complex concentrate (PCC), complement 1 esterase inhibitor (C1-INH), icatibant, and ecallantide",
"pharmacologic treatment",
"FFP, PCC, and regimens",
"icatibant, ecallant... | null | null | [
"Standard agents for anaphylactic reactions",
"limited efficacy for bradykinin-mediated angioedema"
] |
hae:28730616 | Acute Genital Swelling Heralding C1 Esterase Inhibitor Deficiency in a Child. | [
"A healthy 5-year-old boy presented to the emergency department with an acute genital swelling. He had no relevant family history. His presentation and blood investigations were consistent with C1 esterase inhibitor deficiency, mostly likely arising de novo. A rare cause of acute genital swelling and its management... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A healthy \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 5-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | null | null | [
"acute genital swelling",
"acute genital swelling"
] | null | null | [
"C1 esterase inhibitor deficiency"
] | [
"no relevant family history"
] |
hae:28715060 | The Complex Interaction Between Polycystic Ovary Syndrome and Hereditary Angioedema: Case Reports and Review of the Literature. | [
"Hereditary angioedema (HAE) is a rare but severe disease, with high risk of death, and attacks have been associated to high estrogen levels. Polycystic ovary syndrome (PCOS) is a common hyperandrogenic condition, which is frequently treated with combined oral contraceptives.",
"The aim of this study was to descr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"Polycystic ovary syndrome (PCOS)",
"PCOS",
"HAE",
"HAE type III",
"HAEnC1-INH",
"estrogen-dependent form of HAE",
"PCOS",
"HAE",
"PCOS",
"PCOS",
"PCOS",
"HAE"
] | null | [
"death",
"hyperandrogenic",
"HAE attacks",
"PCOS symptoms",
"sex hormones",
"genesis of HAE attacks",
"facial swelling with airway involvement (laryngeal edema)",
"abdominal pain",
"attacks of all types of HAE",
"masking HAE symptoms",
"HAE attacks",
"hyperandrogenism"
] | [
"combined oral contraceptives",
"introduction of combined estrogen-progestin pills",
"initiation of combined contraceptives",
"suspension of exogenous estrogen",
"exogenous estrogen",
"combined estrogen-progestin compounds"
] | null | [
"high estrogen levels",
"relative stable levels of estradiol"
] | [
"normal C1 inhibitor (C1-INH) levels",
"normal C1-INH (HAEnC1-INH)",
"asymptomatic from HAE"
] |
hae:28634542 | Angioedema: Perioperative management. | [
"To describe the perioperative management of a patient with acquired angioedema (AAE).",
"A 66-year-old Caucasian male presented from an outside hospital with a history of acquired angioedema and gastrointestinal stromal tumor-related intractable urticaria and mastocytosis. He was admitted for urgent laparoscopic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the perioperative management of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acquired angioedema (AAE)\n <span style=\"font-... | [
"acquired angioedema (AAE)",
"acquired angioedema",
"gastrointestinal stromal tumor-related intractable urticaria",
"mastocytosis",
"angioedema"
] | null | [
"gastric outlet obstruction symptomatology",
"widespread rash",
"abdominal pain",
"respiratory distress"
] | [
"urgent laparoscopic partial gastrectomy",
"hospitalization",
"treated preoperatively with fresh frozen plasma and his home prednisone dose",
"C1-inhibitor (Berinert®) was on standby along with epinephrine",
"discharged home 3 days after the procedure",
"emergent surgery",
"perioperative plan",
"proph... | [
"Caucasian"
] | null | [
"underlying etiology (C1- inhibitor deficiency vs histaminergic) was not known",
"no intraoperative complications"
] |
hae:28453344 | Pediatric Hereditary Angioedema as a Cause of Acute Compartment Syndrome of the Hand and Forearm: A Case Report. | [
"Compartment syndrome of the upper extremity is a surgical emergency that, when left untreated, can have dire consequences. Its causes are numerous, one of which is the uncommon entity hereditary angioedema, an autosomal dominant disease resulting in edema in a variety of potential locations, including the extremit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Compartment syndrome of the upper extremity\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"hereditary angioedema",
"hereditary angioedema",
"compartment syndrome",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"Hereditary angioedema"
] | [
"autosomal dominant disease"
] | [
"Compartment syndrome of the upper extremity",
"edema in a variety of potential locations, including the extremities",
"hand and forearm compartment syndrome",
"compartment syndrome of the hand and forearm",
"compartment syndrome of the upper extremity",
"compartment syndrome of unknown etiology"
] | [
"hand and volar forearm fasciotomies",
"discharged after a 5-day hospitalization",
"prophylactic C1-inhibitor therapy",
"medical therapy"
] | null | null | null |
hae:28381287 | Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature. | [
"Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose.",
"Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Systemic autoinflammatory diseases (SAIDs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Systemic autoinflammatory diseases (SAIDs)",
"Munchausen by proxy syndrome (MBPS)",
"SAID",
"MBPS"
] | [
"monogenic, polygenic or multifactorial disorders"
] | [
"recurrent fever",
"erythematous and/or blistering skin lesions",
"angioedema",
"susceptibility to bleeding",
"external ear infections",
"reversible anisocoria"
] | [
"multiple empirical therapies"
] | null | null | [
"initially erroneously diagnosed and treated for SAID",
"absence of laboratory evidence of systemic inflammation",
"measurable systemic inflammation is missing"
] |
hae:28292712 | MR imaging of intestinal angioedema related to angiotensin-converting enzyme inhibitors: Report of three cases and review of literature. | [
"Angioedema is a condition in which an increase in vascular permeability leads to the swelling of body tissues. There are both hereditary and acquired forms of the disease, with the latter often associated with the administration of angiotensin-converting enzyme inhibitor medication. Involvement of the intestinal t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"angioedema",
"intestinal angioedema"
] | [
"hereditary"
] | [
"increase in vascular permeability",
"swelling of body tissues",
"Involvement of the intestinal tract",
"abdominal pain",
"nausea",
"vomiting"
] | [
"angiotensin-converting enzyme inhibitor medication"
] | null | null | null |
hae:30010306 | [A Case Report of Acute Angioedema that Showed Dramatic Response to Administration of a C1-inactivator]. | [
"Angioedema is characterized by rapid and severe swelling of the subcutaneous and submucosal tissues. Angioedema\ninvolving the upper airway can lead to life-threatening airway obstruction, and needs prompt diagnosis and treatment.\nHerein, we report a case of acute angioedema which was suspected as having been cau... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"acute angioedema",
"hereditary angioedema (HAE)",
"HAE type\nIII",
"angioedema"
] | null | [
"rapid and severe swelling of the subcutaneous and submucosal tissues",
"Angioedema\ninvolving the upper airway",
"life-threatening airway obstruction",
"sudden swelling of the face and\nneck region",
"breathing difficulty",
"immediate\nand dramatic resolution of the symptoms",
"hormonal condition",
"... | [
"taking a fertility drug for infertility treatment",
"administered a C1-inactivator",
"oral intake of a\nfertility drug",
"hormone therapies"
] | null | [
"estrogen imbalance"
] | [
"continued to progress despite antibiotic and corticosteroid\nadministration",
"the C4 and C1-inhibitor levels were normal",
"estrogen-dependent\nangioedema"
] |
hae:28051822 | Novel usage of fresh frozen plasma in hereditary angioedema. | [
"Hereditary angioedema (HAE) is a rare and potentially life threatening autosomal dominant disease characterized by recurrent episodes of cutaneous and mucosal oedema. It results from reduced expression or loss of function of CI-esterase inhibitors (C1-INH). As opposed to the more common histamine-mediated angioede... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"histamine-mediated angioedema",
"HAE",
"HAE",
"acute HAE episode"
] | [
"autosomal dominant disease"
] | [
"recurrent episodes of cutaneous and mucosal oedema",
"airway obstruction",
"acute attacks of HAE"
] | [
"disease specific treatment including plasma derived or recombinant C1-INH, ecallantide and icatibant",
"FFP",
"FFP"
] | [
"Malaysia",
"Malaysian"
] | [
"reduced expression or loss of function of CI-esterase inhibitors (C1-INH)"
] | [
"not respond well to conventional treatments with anti-histamines, steroids and adrenaline"
] |
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