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:22507340 | Switch to icatibant in a patient affected by hereditary angioedema with high disease activity: a case report. | [
"Icatibant, an antagonist of the bradykinin B2 receptor, was approved for the treatment of acute attacks of hereditary angioedema in the EU in 2008. This paper presents the case of a 65-year-old woman affected by frequent acute attacks of hereditary angioedema who benefitted from a change of therapy to icatibant, f... | [
"<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 Icatibant, an antagonist of the bradykinin B2 receptor\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"acute attacks of hereditary angioedema"
] | null | [
"frequent acute attacks of hereditary angioedema"
] | [
"Icatibant, an antagonist of the bradykinin B2 receptor",
"change of therapy to icatibant",
"years of treatment with C1-inhibitor"
] | null | null | null |
hae:22310967 | Etanercept is safely used for treating psoriatic arthritis in a patient complicated with type 1 hereditary angioedema. | [
"Hereditary angioedema (HAE) is a life-threatening disorder caused by deficiency or dysfunction of the C1 inhibitor protein. Patients with HAE are restricted in various medical treatments, which can induce an HAE attack. We herein report the first case of psoriatic arthritis (PSA) with type 1 HAE successfully treat... | [
"<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",
"psoriatic arthritis (PSA)",
"type 1 HAE",
"HAE",
"intractable PSA",
"rheumatoid arthritis (RA)"
] | null | [
"HAE attack"
] | [
"25 mg of etanercept",
"Etanercept"
] | null | [
"deficiency or dysfunction of the C1 inhibitor protein"
] | [
"without HAE attack"
] |
hae:22299312 | Type I hereditary angioedema in Taiwan -- clinical, biological features and genetic study. | [
"Hereditary angioedema (HAE) is a rare, autosomal dominant inherited disease which is caused by a genetic deficiency of C1 esterase inhibitor (C1 INH). There have only been a few case reports in Taiwan to date.",
"To describe the clinical features of type I HAE in Taiwanese patients.",
"Three unrelated Taiwanes... | [
"<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",
"type I HAE",
"type I HAE",
"hereditary angioedema"
] | [
"rare, autosomal dominant inherited disease",
"genetic deficiency of C1 esterase inhibitor (C1 INH)",
"mutant C1 INH gene"
] | [
"Recurrent skin swelling",
"edema over the four extremities or trunk",
"laryngeal attacks",
"died",
"asphyxia",
"abdominal symptoms"
] | [
"long-term prophylaxis with danazol"
] | [
"Taiwan",
"Taiwanese",
"Taiwanese",
"Taiwan",
"Taiwan"
] | [
"low C1 INH and low C4 levels",
"low levels of C1 INH",
"C1 INH deficiency"
] | null |
hae:22285754 | Diagnosis and management of hereditary angioedema: an emergency medicine perspective. | [
"Hereditary angioedema (HAE) is a rare and often debilitating condition associated with substantial morbidity and mortality in the absence of appropriate intervention. An underlying deficiency in functional C1-inhibitor (C1-INH) protein induces a vulnerability to unchecked activation of the complement, contact, 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)",
"hereditary angioedema",
"HAE attacks",
"HAE",
"HAE",
"acute attacks",
"HAE attacks",
"HAE"
] | null | [
"recurring attacks of non-pitting, non-pruritic edema",
"Laryngeal edema",
"escalate rapidly to asphyxiation",
"severe cases of abdominal swelling",
"hypovolemic shock"
] | [
"plasma-derived C1-INH concentrate",
"new treatment options for acute treatment: a plasma-derived C1-INH concentrate and a kallikrein inhibitor"
] | null | [
"deficiency in functional C1-inhibitor (C1-INH) protein",
"vulnerability to unchecked activation of the complement, contact, and coagulation/fibrinolytic systems"
] | null |
hae:22276768 | Hereditary angioedema in childhood: a challenging diagnosis you cannot afford to miss. | [
"Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history of recurrent skin swelli... | [
"<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",
"spontaneous mutation"
] | [
"life-threatening episode of angioedema of the head and upper respiratory tract",
"recurrent skin swellings",
"abdominal pain"
] | [
"several hospital admissions"
] | null | null | null |
hae:22219624 | Migraine-like headache in a patient with complement 1 inhibitor deficient hereditary angioedema. | [
"We report on an angioedema patient with a genetic defect in complement 1 inhibitor, manifesting migraine-like episodes of headache, effective prophylaxis with Danazol, and triptan for a treatment of acute clinical episode. The patient was 44-yr-old Korean man with abdominal pain and headache, who was brought into ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 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 angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"angioedema",
"headache",
"hereditary angioedema"
] | [
"genetic defect in complement 1 inhibitor",
"genetic defect of C1-INH deficiency"
] | [
"migraine-like episodes of headache",
"acute clinical episode",
"abdominal pain",
"headache",
"frequent attacks of migraine-like headache (3-7 per month), pulsating in nature associated with nausea",
"headache had shown recent progression with abdominal pain",
"symptoms showed improvement",
"migraine-... | [
"effective prophylaxis with Danazol",
"triptan",
"Danazol 200 mg every other day",
"administration of Danazol",
"discharged",
"Danazol",
"administration of naratriptan 2.5 mg",
"Danazol and triptan"
] | [
"Korean",
"Seoul"
] | null | [
"No remarkable findings were observed",
"brain magnetic resonance images"
] |
hae:22195758 | Recurrent attacks of hereditary angioedema: a case of delayed diagnosis. | [
"Hereditary angioedema is a rare disorder, and patients frequently endure long duration of symptoms, frequent physician visits, and unnecessary procedures prior to a diagnosis. Patients with novel mutations may experience especially long delays in diagnosis due to a lack of family history. This case demonstrates 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 Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema"
] | [
"novel mutations",
"hereditary",
"inherited"
] | [
"long duration of symptoms",
"Abdominal pain",
"angioedema",
"swelling"
] | null | null | [
"bradykinin",
"C1 inhibitor"
] | [
"frequent physician visits",
"unnecessary procedures",
"lack of family history"
] |
hae:22195756 | Hereditary angioedema: a case of near fatal laryngeal swelling in a 41-year-old woman. | [
"Hereditary angioedema (HAE) is characterized by nonpitting, nonpruritic subcutaneous, or submucosal edema that may be accompanied by a nonpruritic serpentine erythematous rash. The swelling in this autosomal dominantly inherited disorder is mediated by uncontrolled localized bradykinin production. The extremities,... | [
"<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 swelling attacks",
"HAE",
"HAE"
] | [
"autosomal dominantly inherited"
] | [
"nonpitting, nonpruritic subcutaneous, or submucosal edema",
"nonpruritic serpentine erythematous rash",
"swelling",
"The extremities, face, gastrointestinal tract, genitalia, larynx, and trunk",
"asphyxiation from a laryngeal attack",
"swelling",
"near fatal laryngeal edema"
] | [
"C1 esterase inhibitor concentrate and ecallantide",
"switched to an effective therapy"
] | null | [
"uncontrolled localized bradykinin production"
] | [
"was treated ineffectively for more than 20 years",
"missed dose of the effective therapy"
] |
hae:22193715 | Successful management of hereditary angioedema during tonsillectomy: a case report. | [
"Hereditary angioedema (HAE) is a rare genetic disorder causing a deficiency in C1 esterase inhibitor (C1-INH) that is manifested through unpredictable oedema. We describe a case of a patient with HAE who had previously been refused surgery for tonsillitis due to the potential for oedema, in whom regular monitoring... | [
"<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"
] | [
"rare genetic disorder"
] | [
"unpredictable oedema",
"acute HAE attacks"
] | [
"intensified therapy with danazol, tranexamic acid and C1-INH concentrate",
"uncomplicated procedure",
"higher overall dosages of C1-INH concentrate for perioperative prophylaxis"
] | null | [
"deficiency in C1 esterase inhibitor (C1-INH)"
] | [
"previously been refused surgery for tonsillitis",
"potential for oedema",
"no oedema crisis"
] |
hae:22129507 | A case of hereditary angioedema involving recurrent abdominal attacks. | [
"A 44-year-old Japanese woman was diagnosed with type 1 hereditary angioedema (HAE) at the age of 30. In March 2007, she began suffering from severe abdominal pain due to intestinal edema. After treatment with C1-INH concentrate, her symptoms disappeared. However, during the subsequent three years, the frequency of... | [
"<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 44-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"type 1 hereditary angioedema (HAE)"
] | [
"novel mutation in the C1-INH gene"
] | [
"severe abdominal pain",
"intestinal edema",
"symptoms disappeared"
] | [
"treatment with C1-INH concentrate",
"C1-INH concentrate",
"injection of C1-INH concentrate"
] | [
"Japanese"
] | null | null |
hae:22100478 | Icatibant: a novel approach to the treatment of angioedema related to the use of angiotensin-converting enzyme inhibitors. | [
"Angioedema related to the use of angiotensin-converting enzyme inhibitors (AE-ACEi) has, so far, been treated with antiallergic drugs with questionable results. Because angioedema in this setting is likely related to increased levels of bradikinin, we decided to use icatibant, a bradikinin receptor antagonist lice... | [
"<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",
"hereditary angioedema",
"AE-ACEi",
"AE-ACEi"
] | null | [
"resolution of the angioedema during previous attacks was about 2 days"
] | [
"angiotensin-converting enzyme inhibitors (AE-ACEi)",
"icatibant, a bradikinin receptor antagonist",
"icatibant",
"Icatibant"
] | null | [
"increased levels of bradikinin"
] | [
"antiallergic drugs",
"classic antiallergic drug regimens were used"
] |
hae:22004624 | Acute paediatric compartment syndrome of the hand caused by hereditary angiooedema. | [
"Compartment syndrome of the leg and forearm are well described in the literature. However, compartment syndrome of the hand is rare and in children it is even rarer. Atraumatic hand compartment syndrome has not to our knowledge been previously reported. We describe a case of an atraumatic compartment syndrome of 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 Compartment syndrome of the leg and forearm\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"compartment syndrome of the hand",
"hereditary angiooedema"
] | [
"hereditary disease"
] | [
"Compartment syndrome of the leg and forearm",
"Atraumatic hand compartment syndrome",
"atraumatic compartment syndrome of the hand"
] | [
"urgent fasciotomy"
] | null | null | null |
hae:21985837 | [Icatibant is a new treatment option in life-threatening angioedema triggered by angiotensin-converting enzyme inhibitor]. | [
"A 78 year-old woman with life-threatening angiotensin-converting enzyme inhibitor (ACE-i) induced angioedema was unresponsive to conventional treatment with corticosteroids, antihistamines and epinephrine. She was successfully treated with icatibant licensed for treatment of hereditary angioedema knowing that both... | [
"<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 78 year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioedema",
"ACE-i angioedema"
] | null | [
"life-threatening angiotensin-converting enzyme inhibitor (ACE-i) induced angioedema"
] | [
"icatibant",
"icatibant"
] | null | [
"bradykinin induced activation of bradykinin B2 receptors"
] | [
"unresponsive to conventional treatment with corticosteroids, antihistamines and epinephrine"
] |
hae:21950301 | Successful long-term treatment with the bradykinin B2 receptor antagonist icatibant in a patient with hereditary angioedema. | [
"Hereditary angioedema (HAE) is a rare, autosomal dominant disorder caused by a C1-esterase inhibitor (C1-INH) deficiency (type 1) or qualitative defect (type 2). It is characterized by recurrent subcutaneous or submucosal edema attacks in various organs with a frequency from a few attacks to over one hundred attac... | [
"<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 2)",
"hereditary angioedema",
"acute HAE attacks"
] | [
"rare, autosomal dominant disorder",
"qualitative defect"
] | [
"recurrent subcutaneous or submucosal edema attacks in various organs",
"141 attacks",
"efficacy of icatibant"
] | [
"bradykinin B2 receptor antagonist icatibant",
"icatibant",
"symptomatic treatment"
] | null | [
"C1-esterase inhibitor (C1-INH) deficiency (type 1)"
] | [
"not altered due to repeated administrations",
"No systemic or cardiovascular side affects",
"not impaired by repeated administrations over a three-year period"
] |
hae:21849258 | A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor. | [
"In hereditary angioedema with normal C1-inhibitor two different missense mutations of codon p.Thr328* in the coagulation factor 12 gene have been reported in some families. In this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp) (c.971_1018+24del72*), was identified in a family of Turkish... | [
"<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 hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"hereditary angioedema",
"hereditary angioedema"
] | [
"missense mutations of codon p.Thr328* in the coagulation factor 12 gene",
"novel factor 12 gene mutation, the deletion of 72 base pairs (bp) (c.971_1018+24del72*)",
"deletion caused a loss of 48 bp of exon 9 (coding amino acids 324* to 340*) in addition to 24 bp of intron 9, including the authentic donor splic... | null | null | null | null | [
"normal C1-inhibitor",
"normal C1-inhibitor"
] |
hae:21790735 | A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema. | [
"C1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman... | [
"<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 (C1-INH) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"hereditary or acquired angio-oedema (HAE or AAE)",
"HAE",
"sporadic HAE",
"HAE"
] | [
"mutations in the C1-INH gene",
"copy number of the C1-INH gene",
"a 650-kbp deletion on the chromosome, which included the C1-INH gene"
] | [
"recurring episodes of subcutaneous or submucosal oedema",
"angio-oedema attacks"
] | null | [
"Japanese"
] | [
"C1 inhibitor (C1-INH) deficiency",
"coagulation activity",
"levels of D-dimer were high",
"often exceeded the normal range",
"level of D-dimer"
] | [
"no point mutation in the C1-INH gene",
"even during remission"
] |
hae:21680677 | Hereditary angioedema: an unusual cause of genital swelling presenting to a genitourinary medicine clinic. | [
"We report a case of a new diagnosis of hereditary angioedema (HAE) presenting with genital swelling to a genitourinary (GU) medicine clinic. There is often a significant delay in diagnosing HAE, but it commonly presents with genital swelling before manifesting as potentially life-threatening visceral attacks. This... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of a new 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 (HAE)\n <span style=\"font-size: 0.8em; font-... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"genital swelling",
"genital swelling",
"potentially life-threatening visceral attacks",
"genital oedema",
"prevent more serious future visceral episodes"
] | null | null | null | null |
hae:21636327 | Lack of increased prevalence of immunoregulatory disorders in hereditary angioedema due to C1-inhibitor deficiency. | [
"Hereditary angioedema due to deficiency of C1-INH (HAE-C1-INH) is associated with enhanced consumption of the early complement components, which may predispose for autoimmune disease. We assessed the prevalence of such disorders among HAE- C1-INH patients and their impact on the natural course of HAE-C1-INH. Clini... | [
"<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",
"autoimmune disease",
"HAE- C1-INH",
"HAE-C1-INH",
"HAE-C1-INH",
"angioedema",
"immunoregulatory disorders",
"HAE-C1-INH",
"angioedema",
"HAE-C1-INH",
"HAE-C1-INH",
"immunoregulatory disorders",
"immunoregulatory disease",
"HAE-C1-INH"
] | null | null | null | null | [
"deficiency of C1-INH (HAE-C1-INH)",
"enhanced consumption of the early complement components",
"prevalence of anticardiolipin IgM"
] | [
"non-C1-INH-deficient",
"non-C1-INH-deficient",
"non-C1-INH-deficient angioedema",
"immunoregulatory disorders"
] |
hae:21543912 | An update on hereditary angioedema. | [
"Hereditary angioedema affects approximately 1 in 50,000 individuals without gender or ethnic preference. Hereditary angioedema is caused by a decreased level (type I) or function (type II) of C1 inhibitor. Patients experience repeated episodes of angioedema involving sites that include the face, extremities, gastr... | [
"<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",
"angioedema"
] | null | [
"repeated episodes of angioedema involving sites that include the face, extremities, gastrointestinal tract, and larynx",
"acute episodes of angioedema",
"prevention of future episodes"
] | [
"measures to increase functioning levels of active C1 inhibitor through stimulation of endogenous pathways or exogenous supplementation"
] | null | [
"decreased level (type I) or function (type II) of C1 inhibitor",
"inhibition of bradykinin"
] | null |
hae:21315535 | Treatment of laryngeal hereditary angioedema. | [
"In the emergency department, patients with laryngeal swelling and an inconclusive patient history may receive treatment for allergy-mediated angioedema. Intubation may be necessary if the patient does not respond to treatment. Because angioedema subtypes respond to different interventions, a correct diagnosis is v... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In the emergency department, patients 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 laryngeal swelling\n <span style=\"font-size: 0.8em; font-weigh... | [
"allergy-mediated angioedema",
"angioedema",
"angioedema",
"angioedema subtypes",
"hereditary angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"laryngeal swelling",
"laryngeal swelling",
"able to swallow within 30 min"
] | [
"Intubation",
"acute treatment",
"clinical study of acute HAE treatment",
"1000 units of nanofiltered C1 inhibitor",
"routine prophylaxis with C1 inhibitor concentrate"
] | null | [
"C1 inhibitor deficient"
] | [
"inconclusive patient history",
"does not respond to treatment",
"unresponsive to diphenhydramine, methylprednisolone, and epinephrine",
"no subsequent severe HAE swelling attacks"
] |
hae:21312024 | [Facial edema as an earlier presenting sign of giant cell arteritis. Possible relationship with angioedema]. | [
"Giant cell arteritis (GCA) is a chronic granulomatous vasculitis of unknown etiology occurring in the elderly. New-onset headache, scalp tenderness, jaw claudication, temporal artery abnormalities on physical examination, visual symptoms and associated polymyalgia rheumatica represent the most typical and frequent... | [
"<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 Giant cell arteritis (GCA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Giant cell arteritis (GCA)",
"chronic granulomatous vasculitis of unknown etiology",
"polymyalgia rheumatica",
"GCA",
"angioedema"
] | null | [
"New-onset headache",
"scalp tenderness",
"jaw claudication",
"temporal artery abnormalities on physical examination",
"visual symptoms",
"facial edema",
"facial edema"
] | null | null | null | null |
hae:21258014 | Diagnosis and management of hereditary angioedema. | [
"Hereditary angioedema (HAE) is characterized by sudden attacks of deep tissue swelling caused by C1 inhibitor deficiency. Swelling severity can vary from mild to severe, and some patients are at risk for disability and death from either asphyxiation or hypovolemic shock. Many HAE attacks are precipitated by trauma... | [
"<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"
] | null | [
"sudden attacks of deep tissue swelling",
"Swelling severity",
"disability",
"death",
"asphyxiation",
"hypovolemic shock",
"trauma",
"stress",
"The extremities, genitalia, trunk, bowels, face, and larynx",
"swelling can affect any single part of the body or multiple sites",
"worsen over 24 to 36... | null | null | [
"C1 inhibitor deficiency"
] | [
"without urticaria"
] |
hae:21251443 | Initial presentation of hereditary angioedema as abdominal pain and ascites in puerperium: case report. | [
"Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1 inhibitor. It is characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swelling involving different organs. Hereditary angioedema may present with divers... | [
"<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",
"type 1 hereditary angioedema",
"hereditary angioedema"
] | [
"rare genetic disorder",
"inherited deficiency or dysfunction of the C1 inhibitor"
] | [
"recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swelling involving different organs",
"recurrent abdominal pain associated with ascites",
"acute and/or recurrent abdominal pain associated with ascites"
] | null | null | null | [
"without any other clinical features of hereditary angioedema",
"unnecessary invasive procedures"
] |
hae:21137180 | [Hereditary angioedema--neglected diagnosis]. | [
"Hereditary angioedema caused by C1 esterase inhibitor deficiency is a rare autosomal dominant inherited disorder. It is characterized by recurrent episodes of potentially life-threatening swellings without itching localized in the dermis and submucosa. We report a case of 41 years old woman with hereditary 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",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema"
] | [
"rare autosomal dominant inherited disorder"
] | [
"recurrent episodes of potentially life-threatening swellings without itching localized in the dermis and submucosa",
"episodes of localized skin swellings",
"painful gastrointestinal colics"
] | null | null | [
"C1 esterase inhibitor deficiency"
] | null |
hae:20975289 | Long-term prophylaxis of hereditary angioedema with a pasteurized C1 inhibitor concentrate. | [
"Hereditary angioedema (HAE) is a relatively rare genetic disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Common clinical presentations are abdominal pain and localized edema of the skin, with laryngeal edema being potentially life-threatening. Replacement therapy with C1-INH concentrate is recom... | [
"<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)",
"acute HAE attacks",
"of HAE",
"HAE"
] | [
"rare genetic disorder"
] | [
"abdominal pain",
"localized edema of the skin",
"laryngeal edema",
"potentially life-threatening",
"rapid resolution of symptoms",
"dramatic improvement in symptoms",
"improved quality of life"
] | [
"Replacement therapy with C1-INH concentrate",
"C1-INH concentrate",
"prophylaxis",
"use of C1-INH concentrate as a home therapy for on-demand and prophylactic self-administration",
"treatment approach"
] | null | [
"deficiency of C1 esterase inhibitor (C1-INH)"
] | [
"standard prophylactic agents are ineffective or not tolerated"
] |
hae:20967560 | Angioedema triggered by pulp extirpation--a case report. | [
"C1-esterase inhibitor deficiency results in episodes of non-allergic edema of parts of the body. Edema of the face may be triggered by dental therapy.",
"We report a case of C1-esterase inhibitor deficiency which was detected in a 42-year-old woman. The patient was completely unaware that she had this disorder o... | [
"<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-esterase inhibitor deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"angioedema"
] | null | [
"episodes of non-allergic edema of parts of the body",
"Edema of the face",
"intense facial angioedema"
] | [
"dental therapy",
"pulp extirpation of lower premolar tooth"
] | null | [
"C1-esterase inhibitor deficiency",
"C1-esterase inhibitor deficiency",
"C1-esterase inhibitor deficiency",
"C1-esterase inhibitor deficiency"
] | [
"patient was completely unaware that she had this disorder or of any related family history"
] |
hae:20955596 | Successful C1 inhibitor short-term prophylaxis during redo mitral valve replacement in a patient with hereditary angioedema. | [
"Hereditary angioedema is characterized by sudden episodes of nonpitting edema that cause discomfort and pain. Typically the extremities, genitalia, trunk, gastrointestinal tract, face, and larynx are affected by attacks of swelling. Laryngeal swelling carries significant risk for asphyxiation. The disease results ... | [
"<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"
] | [
"mutations in the C1 esterase inhibitor gene"
] | [
"sudden episodes of nonpitting edema",
"discomfort and pain",
"extremities, genitalia, trunk, gastrointestinal tract, face, and larynx",
"attacks of swelling",
"Laryngeal swelling",
"asphyxiation",
"swelling attacks",
"Trauma",
"hereditary angioedema attacks",
"peri-operative morbidity",
"surgic... | [
"uncomplicated surgeries",
"Appropriate prophylaxis",
"successful short-term prophylaxis with C1 esterase inhibitor",
"redo mitral valve reconstructive surgery"
] | null | [
"C1 esterase inhibitor deficiency",
"contact, complement, and fibrinolytic plasma cascade activation",
"C1 esterase inhibitor irreversibly binds substrates",
"cannot replenish C1 esterase inhibitor levels on pace with its binding",
"C1 esterase inhibitor is depleted",
"vasoactive plasma cascade products",... | [
"denied surgical procedures"
] |
hae:20888297 | Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema. | [
"Hereditary angiooedema is an autosomal dominant disease caused by mutations in the SERPING1 gene. It is characterized by oedemas in different parts of the body, being particularly dangerous when swelling involves the upper airway. Preimplantation genetic diagnosis (PGD) was performed in a couple where the woman ca... | [
"<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 angiooedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Hereditary angiooedema",
"singleton pregnancy"
] | [
"autosomal dominant disease",
"mutations in the SERPING1 gene",
"carries a deletion of 2.9Kb that includes exon 4 of the SERPING1 gene",
"disease-bearing haplotype"
] | [
"oedemas in different parts of the body",
"swelling involves the upper airway"
] | [
"Preimplantation genetic diagnosis (PGD)",
"PGD",
"Two embryos were transferred"
] | null | null | null |
hae:20888081 | [Acute pancreatitis associated with hereditary angioedema]. | [
"Hereditary angioedema (HAE) is an infrequent, recurrent, and potentially lethal disorder caused by a deficiency of C(1) inhibitor or its activity. Abdominal pain secondary to bowel edema is common in these patients. However, a thorough literature search yielded only six previously reported cases of pancreatitis as... | [
"<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)",
"pancreatitis"
] | null | [
"Abdominal pain secondary to bowel edema"
] | null | null | [
"deficiency of C(1) inhibitor or its activity"
] | null |
hae:20685498 | Concomitant administration of simvastatin and danazol associated with fatal rhabdomyolysis. | [
"Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor, is indicated for the treatment of hypercholesterolemia and plays an important role in both the primary and secondary prevention of cardiovascular disease. Danazol is a steroid analogue approved for the treatment of endometriosis, fibrocystic... | [
"<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 Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor\n <span style=\"font-size: 0.8em;... | [
"cardiovascular disease",
"endometriosis",
"fibrocystic breast disease",
"hereditary angioedema",
"idiopathic thrombocytopenic purpura (ITP)",
"paroxysmal nocturnal hemoglobinuria",
"aplastic anemia",
"fatal rhabdomyolysis",
"ITP",
"severe rhabdomyolysis",
"probable association of rhabdomyolysis... | null | [
"head injuries",
"accidental fall",
"generalized weakness",
"fatigue",
"mild pretibial edema",
"progressive bilateral leg pain and cramping",
"collapse",
"nasal contusion",
"nausea",
"dark urine",
"oliguria",
"dark urine",
"muscle pain, and tenderness",
"persisted",
"died",
"muscle or ... | [
"Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor",
"hypercholesterolemia",
"Danazol",
"steroid analogue",
"danazol",
"concomitant administration of simvastatin and danazol",
"discharged",
"forced diuresis",
"hemodialysis",
"concomitant treatment with simvastatin and danazo... | [
"white",
"Belgrade",
"Serbia"
] | [
"oliguria",
"laboratory markers",
"creatine kinase levels approximately 100 times the upper limit of normal",
"hyperkalemia, hyperphosphatemia, and hypoalbuminemia",
"oliguria"
] | [
"denied other complaints",
"without any changes in his therapy",
"Despite intravenous hydration"
] |
hae:20628406 | Abdominal symptoms of hereditary angioedema and early weaning. | [
"Hereditary angioedema (HAE), a condition caused by deficiency of C1 inhibitor that results in acute and painful swelling in locations that can include the face, neck, abdomen, extremities and genitals, is a potentially life-threatening disorder. Many factors may contribute to phenotype development. A case report 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 gastrointestinal symptoms",
"HAE"
] | null | [
"acute and painful swelling in locations that can include the face, neck, abdomen, extremities and genitals"
] | [
"early weaning",
"duration of breast-feeding",
"timing of cow's milk introduction",
"breastfeeding"
] | null | [
"deficiency of C1 inhibitor"
] | [
"no efficacy against the manifestations of HAE"
] |
hae:20615276 | Angioedema in a child with a liver transplant, intussusception, and normal c4 levels. | [
"Swelling is a common chief complaint among patients. Swelling and hives are not typical of hereditary angioedema. Organ transplantation drugs are associated with angiodema and may complicate diagnosis. Our objective was to manage a complex case of angioedema in a setting of rashes and liver transplantation. We pre... | [
"<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 Swelling\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"angiodema",
"angioedema",
"hereditary angioedema (HAE)",
"HAE"
] | null | [
"Swelling",
"Swelling and hives",
"rashes",
"angioedema",
"rashes",
"intussusception",
"eliminated angioedema and intussusception",
"severe attacks of angioedema",
"Rashes associated with angioedema"
] | [
"Organ transplantation drugs",
"liver transplantation",
"liver transplant",
"tacrolimus use",
"Treatment with the kallikrein inhibitor, kalbitor"
] | null | [
"Serial C1 esterase [corrected] inhibitor levels were only suppressed",
"C1q autoantibody was elevated",
"low [corrected] C4 levels",
"C1q immune complexes",
"autoantibodies",
"low-grade inflammation",
"consumption of C1 esterase inhibitor levels with C4 unaffected"
] | [
"hereditary angioedema",
", though not permanently",
"not urticarial"
] |
hae:20531165 | Delayed diagnosis of hereditary angioedema. | [
"Hereditary angioedema (HAE) is a rare and potentially fatal disease that is important to recognize early. It is usually associated with low levels or impaired function of C1 inhibitor, which is involved in several inflammatory pathways. The treatment of HAE is very different from other causes of angioedema, emphas... | [
"<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",
"angioedema",
"HAE"
] | null | [
"symptoms starting in his teens"
] | null | null | [
"low levels or impaired function of C1 inhibitor, which is involved in several inflammatory pathways"
] | null |
hae:20522360 | Perioperative management of a patient with hereditary angioedema during off-pump coronary artery bypass graft surgery. | [
"The case of a patient with hereditary angioedema (HAE), a rare, life-threatening disorder caused by reduced activity of the C1 esterase inhibitor, and requiring off-pump coronary artery bypass graft (OP-CABG) surgery, is presented. Perioperative management of patients with HAE who undergo complex cardiac surgical ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The case 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 hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"hereditary angioedema (HAE)",
"HAE"
] | null | null | [
"off-pump coronary artery bypass graft (OP-CABG) surgery",
"complex cardiac surgical procedures",
"OP-CABG surgical approach",
"fresh-frozen plasma administration to increase C1 esterase inhibitor activity",
"administration of reduced doses of heparin and protamine to minimize heparin-protamine complex form... | null | [
"reduced activity of the C1 esterase inhibitor",
"decrease complement activation"
] | null |
hae:20491362 | Vanishing tumour of the colon ascendens due to acquired type II C1-inhibitor deficiency. | [
"We present a patient with recurrent bouts of angioedema of the lips, throat and extremities with a negative familial history for angioedema. Laboratory results confirmed an angioedema due to acquired C1-INH deficiency (or acquired angioedema, AAE). As AAE can result from underlying disease, further investigation t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 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 recurrent bouts of angioedema of the lips, throat and extremities\n <span style=... | [
"angioedema",
"acquired angioedema, AAE)",
"AAE",
"malignancy",
"hereditary angioedema",
"AAE"
] | null | [
"recurrent bouts of angioedema of the lips, throat and extremities",
"circumferential tumour of the proximal segment of the colon ascendens",
"Angioedema of the bowel"
] | null | null | [
"acquired C1-INH deficiency"
] | [
"negative familial history for angioedema"
] |
hae:20490261 | Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene. | [
"Backgroud. Hereditary angioedema (HAE) is characterized by recurrent swelling of the skin, the abdomen (causing severe acute pain), and the airways. A recently discovered type caused by mutations in the factor XII gene (designated as HAE type III) occurs mainly in women. Estrogens may play an important role, but f... | [
"<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 Backgroud\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Hereditary angioedema (HAE)",
"HAE type III)",
"HAE"
] | [
"mutations in the factor XII gene",
"p. Thr328Lys mutation in the F12 gene"
] | [
"Backgroud",
"recurrent swelling of the skin, the abdomen (causing severe acute pain), and the airways",
"obstetrical complications",
"obstetrical complications",
"acute and severe maternal abdominal pain",
"transient ascites",
"laryngeal edema",
"fetal and neonatal deaths",
"unexplained maternal as... | [
"Administration of C1-inhibitor concentration twice monthly",
"its predelivery administration (1000 U)",
"delivery of healthy girls"
] | null | null | [
"normal C4 levels",
"normal C1 inhibitor gene"
] |
hae:20471627 | Characterization of acute hereditary angioedema attacks during pregnancy and breast-feeding and their treatment with C1 inhibitor concentrate. | [
"The objective of the study was to investigate the rates and characteristics of hereditary angioedema (HAE) attacks associated with pregnancy, delivery, and the postpartum period and their treatment with C1 esterase inhibitor (INH) concentrate.",
"This was an observational study including 22 women with type I HAE... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The objective of the study was to investigate the rates and characteristics 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) at... | [
"hereditary angioedema (HAE) attacks",
"pregnancy",
"type I HAE",
"pregnancies",
"pregnancy",
"HAE"
] | null | [
"controlled attacks",
"pregnancy"
] | [
"C1 esterase inhibitor (INH) concentrate",
"C1-INH concentrate",
"C1-INH concentrate",
"availability of C1-INH concentrate",
"pregnancy",
"delivery"
] | null | [
"Low-plasma C1-INH activity"
] | null |
hae:20359432 | Management of a dentigerous cyst in a child with hereditary angioedema. | [
"The purpose of this paper was to report the case of an 8-year-old girl with hereditary angioedema (HAE) who underwent 2 oral surgeries for removal of a dentigerous cyst without any significant episode of angioedema. One week after routine radiographic examination revealed an odontogenic cyst, short-term prophylact... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The purpose of this paper was to report the case of 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 8-year-old\n <span style=\"font-size: 0.8em; font-w... | [
"hereditary angioedema (HAE)",
"odontogenic cyst",
"dentigerous cyst",
"HAE"
] | null | [
"the cyst recurred"
] | [
"2 oral surgeries",
"removal of a dentigerous cyst",
"short-term prophylactic therapy (Danazol 600 mg/day)",
"The cyst",
"carefully removed under general anesthesia",
"Postoperative prophylactic therapy",
"surgery",
"it was successfully removed once more under general anesthesia",
"The same prophyla... | null | null | [
"without any significant episode of angioedema",
"angioedema attack",
"without life-threatening complications"
] |
hae:20123405 | Hereditary angioedema: treatment, management, and precautions in patients presenting for dental care. | [
"Hereditary angioedema (HAE) is a nonhistamine-mediated process causing edema of the tissues of the upper airway, dermis, and subcutaneous tissue. As such it does not respond well to epinephrine, antihistamines, or glucocorticoids. Instead it is treated with attenuated androgenic hormones, episolone aminocaproic ac... | [
"<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)",
"nonhistamine-mediated process"
] | null | [
"edema of the tissues of the upper airway, dermis, and subcutaneous tissue",
"Minor trauma",
"psychologic stress",
"Symptoms of angioedema",
"dental/oral surgical complaints"
] | [
"attenuated androgenic hormones, episolone aminocaproic acid (EACA), or tranexamic acid, C1 esterase inhibitor, and fresh-frozen plasma",
"Medical or surgical management of the airway",
"dental procedures",
"angiotensin-converting enzyme inhibitor"
] | null | null | [
"does not respond well to epinephrine, antihistamines, or glucocorticoids",
"swelling may not manifest itself for 12-48 hours after a procedure"
] |
hae:20052501 | Anesthesia management for emergency laparotomy in a pediatric patient with suspected hereditary angioedema. | [
"Hereditary angioedema (HAE) is caused by complement factor 1 inhibitor (C1-INH) deficiency, and its mode of inheritance is autosomal dominant. We present a case of an 8-year-old patient who required emergency laparotomy after a traffic accident. General anesthesia with tracheal intubation was necessary. The patien... | [
"<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"
] | [
"mode of inheritance is autosomal dominant"
] | [
"airway edema"
] | [
"emergency laparotomy",
"traffic accident",
"General anesthesia with tracheal intubation",
"tracheal intubation",
"pasteurized C1-INH concentrate",
"laparotomy uneventfully",
"prophylactic use of a C1-INH",
"tracheal intubation"
] | null | [
"complement factor 1 inhibitor (C1-INH) deficiency",
"perioperative plasma complement 1 q subunit (C1q) protein level and C1-INH function were not lowered"
] | [
"It was impossible to rule out HAE preoperatively in the patient"
] |
hae:24421965 | Hereditary angioedema: three cases report, members of the same family. | [
"This current clinical case report highlights three cases of Hereditary angioedema (HAE) patients who are all members of the same family (father and his two daughters). The father has C1-INH deficiency, while his daughters have low C1-INH levels: the first possesses only 10% function and the second has low C1-INH l... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This current clinical case report highlights three cases 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=\"fo... | [
"Hereditary angioedema (HAE)",
"HAE",
"Acute angioedema",
"HAE",
"HAE"
] | null | [
"HAE episode",
"laryngeal oedema",
"potential laryngeal oedema"
] | [
"administration of C1-INH before dental operation",
"dental procedures",
"Use of both short-term and long-term HAE prophylaxis prior to dental operations",
"dental procedures"
] | null | [
"C1-INH deficiency",
"low C1-INH levels",
"possesses only 10% function",
"low C1-INH level with 0% function",
"total or partial C1-INH deficiency exist"
] | null |
hae:19999152 | [A case of difficult-to-diagnose hereditary angioedema]. | [
"Hereditary angioedema (HAE) due to an inherited C1-inhibitor (C1-INH) deficiency causes localized swelling of the oral cavity, pharynx, larynx, and face, that may be life-threatening when the larynx is involved. A 26-year-old woman seen 3 times previously for pharyngeal or laryngeal edema while in her teens, and s... | [
"<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",
"idiopathicedema",
"HAE differential diagnosis"
] | [
"inherited C1-inhibitor (C1-INH) deficiency"
] | [
"localized swelling of the oral cavity, pharynx, larynx, and face",
"life-threatening",
"larynx is involved",
"pharyngeal or laryngeal edema",
"dyspnea",
"esophageal edema",
"pleural effusion"
] | null | null | [
"C1-INH activity was low"
] | null |
hae:19942448 | Supplementation of C1-esterase inhibitor concentrates for a patient suffering from hereditary angioedema undergoing complex open-heart surgery. | [
"Hereditary angioedema (HAE) is an autosomal dominantly inherited deficiency of C1-inhibitor, and it is an extremely rare condition. During surgery, oedema can be induced by a variety of stresses, and a high mortality rate has been reported. Since open-heart surgery involves cardiopulmonary bypass, the inflammatory... | [
"<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"
] | [
"autosomal dominantly inherited"
] | [
"oedema",
"systemic oedema",
"laryngeal oedema"
] | [
"surgery",
"open-heart surgery",
"cardiopulmonary bypass",
"open-heart surgery",
"short-term cardiopulmonary bypass or off-pump coronary artery bypass grafting (CABG)",
"long-term cardiopulmonary bypass (longer than 5h) for open-heart surgery"
] | null | [
"deficiency of C1-inhibitor",
"inflammatory response and complement activity"
] | [
"not result in any postoperative decline in respiratory function",
"or similar complications"
] |
hae:19849675 | Peri-operative management of a patient with hereditary angioedema undergoing laparoscopic cholecystectomy. | [
"Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1-esterase inhibitor of the classic complement pathway. It is characterised by recurrent episodes of angioedema, without urticaria or pruritus, most often affecting the skin or the mucosal tissues of the ... | [
"<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"
] | [
"rare genetic disorder",
"inherited deficiency or dysfunction of the C1-esterase inhibitor of the classic complement pathway"
] | [
"recurrent episodes of angioedema",
"affecting the skin or the mucosal tissues of the upper respiratory and gastrointestinal tracts"
] | [
"peri-operative care",
"laparoscopic cholecystectomy"
] | null | null | [
"without urticaria or pruritus"
] |
hae:19843403 | Variability of prodromal signs and symptoms associated with hereditary angioedema attacks: a literature review. | [
"Hereditary angioedema (HAE) is a rare disease caused by deficiency in the production or function of C1 inhibitor. It predisposes individuals to paroxysmal acute attacks causing painful, debilitating, disfiguring, and life-threatening angioedema. Prodromes occurring hours to days before attacks have been described ... | [
"<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 attacks",
"hereditary angioedema",
"HAE"
] | null | [
"paroxysmal acute attacks",
"painful, debilitating, disfiguring, and life-threatening angioedema",
"Prodromes",
"clinically significant angioedema",
"prodromes",
"HAE attacks",
"angioneurotic edema",
"prodrome",
"prodromes associated with HAE attacks",
"HAE attacks"
] | [
"abortive therapeutic intervention"
] | null | [
"deficiency in the production or function of C1 inhibitor"
] | null |
hae:19758369 | Successful treatment of hereditary angioedema with bradykinin B2-receptor antagonist icatibant. | [
"The bradykinin B2 receptor antagonist icatibant has recently become available for treating hereditary angioedema. Our observations demonstrate icatibant to be effective and safe for the treatment of both, abdominal and cutaneous attacks in a practice setting beyond clinical studies."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 bradykinin B2 receptor antagonist icatibant\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"hereditary angioedema"
] | null | [
"both, abdominal and cutaneous attacks"
] | [
"bradykinin B2 receptor antagonist icatibant",
"icatibant"
] | null | null | null |
hae:27582827 | Hereditary angioedema and pregnancy: successful management of recurrent and frequent attacks of angioedema with C1-inhibitor concentrate, danazol and tranexamic acid - a case report. | [
"Hereditary angioedema (HAE) is a rare but potentially life-threatening condition caused by deficiency of C1 esterase inhibitor. It is characterized by subcutaneous swelling in any part of the skin, gastrointestinal and respiratory tracts. We present the case of a pregnant woman with known HAE that deteriorated dur... | [
"<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"
] | null | [
"subcutaneous swelling in any part of the skin, gastrointestinal and respiratory tracts",
"pregnancy",
"frequent attacks"
] | [
"danazol, tranexamic acid",
"regular intravenous administration of C1 esterase inhibitor"
] | null | [
"deficiency of C1 esterase inhibitor"
] | null |
hae:19561786 | Severe migratory Angioedema due to ACE inhibitors use. | [
"Angioedema due to use of angiotensin-converting enzyme inhibitors (ACEIs) is a rare side-effect but is seen more often because of the increase in the use of these drugs due to their effectiveness and good tolerance in the treatment of hypertension and congestive heart failure. Other types of angioedema, which shou... | [
"<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",
"hypertension",
"angioedema",
"hereditary",
"allergic angioedema",
"Angioedema",
"angioedema",
"angioedema"
] | null | [
"congestive heart failure",
"potentially life-threatening",
"located to the mucosal and submucosal layers of the upper airway",
"fatal",
"severe migratory angioedema of the tongue, the floor of the mouth and the oropharynx"
] | [
"angiotensin-converting enzyme inhibitors (ACEIs)",
"ACEIs",
"angiotensin II receptor blockers"
] | null | [
"deficiency of C1 esterase inhibitor"
] | [
"resistant to the usual treatment",
"rather resistant to the usual treatment"
] |
hae:19508842 | Derm diagnoses you can't afford to miss. | [
"Management of hereditary angioedema should include fresh frozen plasma containing C1 inhibitor (C1-INH), whenever possible; if C1-INH-containing plasma is unavailable, fresh frozen plasma can be used instead. Do not give neomycin to patients with suspected cellulitis; the drug may promote antibiotic resistance in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Management 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; b... | [
"hereditary angioedema",
"cellulitis"
] | [
"antibiotic resistance in Staphylococcus aureus"
] | [
"erythematous skin lesions"
] | [
"fresh frozen plasma containing C1 inhibitor (C1-INH)",
"fresh frozen plasma",
"recent history of receiving penicillin or a cephalosporin antibiotic, a sulfa derivative, or an anticonvulsant"
] | null | null | [
"C1-INH-containing plasma is unavailable",
"Do not give neomycin",
"Stevens-Johnson syndrome is ruled out"
] |
hae:19359129 | [Anaesthesic management of vaginal delivery in a parturient with C1 esterase deficiency]. | [
"Hereditary and acquired angioedema (HAE/AAE) are the clinical translation of a qualitative or a quantitative deficit of C1 esterase inhibitor (C1 INH). The frequency and severity of clinical manifestations vary greatly, ranging from a moderate swelling of the extremities to obstruction of upper airway. Anaesthesio... | [
"<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 and acquired angioedema (HAE/AAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Hereditary and acquired angioedema (HAE/AAE)",
"pregnancy",
"HAE",
"pregnancy"
] | null | [
"moderate swelling of the extremities",
"obstruction of upper airway",
"life-threatening laryngeal edema",
"acute attacks"
] | [
"Surgery",
"physical trauma",
"labour",
"labour",
"caesarean section",
"prophylaxis",
"tranexamic acid",
"administer a predelivery infusion of C1 INH concentrate",
"manipulation of the airway",
"regional techniques",
"administration of C1 INH during labor and early epidural analgesia for pain re... | null | [
"qualitative or a quantitative deficit of C1 esterase inhibitor (C1 INH)"
] | [
"Androgens are contraindicated"
] |
hae:19178407 | Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III. | [
"A new type of hereditary angioedema (type III) affecting mainly women with normal C1-inhibitor level and function has been described. Exposition to estrogens is an important precipitating factor. Recently, a missense mutation in the gene of the blood coagulation factor XII (Hageman factor) has been reported in a f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A new type 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 (type III)\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"hereditary angioedema (type III)",
"hereditary angioedema",
"pregnancy",
"hereditary angioedema type III"
] | [
"missense mutation in the gene of the blood coagulation factor XII (Hageman factor)",
"mutations in the coagulation factor XII gene",
"missense mutation Thr309Lys was identified in factor XII gene with a heterozygotic pattern",
"mentioned mutation in factor XII gene"
] | [
"Exposition to estrogens",
"recurrent swelling attacks"
] | null | null | [
"Complement factors C3 and C4 as well as C1-inhibitor level and function"
] | [
"normal C1-inhibitor level and function",
"C3 and C4 levels as well as C1-inhibitor level and function were normal"
] |
hae:19176173 | [Hereditary angioedema--diagnostic problems]. | [
"Hereditary angioedema (HAE) is a rare, but potentially life-threatening condition, clinically characterized by recurrent and self-limiting episodes of swelling which affect the skin, gastrointestinal tract and upper airways, and are caused by a lack of complement-C1-inhibitor (C1-INH). Within the past ten years, 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 Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE"
] | null | [
"recurrent and self-limiting episodes of swelling which affect the skin, gastrointestinal tract and upper airways",
"died",
"laryngeal oedema"
] | null | [
"Danish"
] | [
"lack of complement-C1-inhibitor (C1-INH)"
] | null |
hae:19132494 | Computed tomography of the gastrointestinal manifestation of hereditary angioedema. | [
"We report a case of gastrointestinal manifestation of hereditary angioedema. Computed tomography (CT) revealed wall thickening of the gastric antrum, duodenum, and jejunum. Dilatation of the third part of the duodenum, thickening of the small bowel mesentery and omentum, and retroperitoneal edema were present. The... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case 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 gastrointestinal manifestation\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"hereditary angioedema"
] | null | [
"gastrointestinal manifestation",
"wall thickening of the gastric antrum, duodenum, and jejunum",
"Dilatation of the third part of the duodenum",
"thickening of the small bowel mesentery and omentum",
"retroperitoneal edema"
] | null | null | null | null |
hae:19006046 | [67-year-old patient with speech disorder and dysphagia]. | [
"A 67-year-old man who had been heart transplanted ten years before was admitted to our hospital because of diarrhea. During his stay he developed a severe lingual and facial angioedema. After excluding hereditary angioedema caused by a deficiency in functional C1 esterase inhibitor we focused on adverse effects of... | [
"<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 67-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"diarrhea",
"angioedema",
"angioedema"
] | null | [
"severe lingual and facial angioedema",
"adverse effects of his drugs",
"angioedema disappeared",
"angioedema"
] | [
"heart transplanted",
"medication was composed of Aspirin, Enalapril, Diltiazem, Everolimus, Mycophenolate Mofetil, Bisoprolol, Pravastatin, Esomeprazol",
"Allopurinol",
"anti-allergic treatment",
"administration of the suspected trigger enalapril was stopped",
"medicated with was Everolimus for 30 days",... | null | [
"deficiency in functional C1 esterase inhibitor"
] | [
"excluding hereditary angioedema",
"missing urticaria",
"Aspirin was unlikely the causer",
"no angioedema occurred"
] |
hae:18851753 | Membranous nephropathy in a patient with hereditary angioedema: a case report. | [
"Hereditary angioedema is the commonest inherited disorder of the complement system and has been associated with several immune glomerular diseases. A case of nephrotic syndrome and renal impairment due to idiopathic membranous glomerulonephritis in a patient with hereditary angioedema has not been described before... | [
"<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",
"immune glomerular diseases",
"nephrotic syndrome",
"idiopathic membranous glomerulonephritis",
"hereditary angioedema",
"association of membranous nephropathy and hereditary angioedema",
"severe nephrotic syndrome",
"severe nephrotic syndrome",
"membranous nephropathy",
"... | [
"inherited disorder of the complement system"
] | [
"renal impairment",
"acute intestinal angioedema",
"hypertension",
"acute pancreatitis",
"renal impairment",
"generalised body swelling",
"renal impairment",
"hypertension",
"end stage renal failure"
] | [
"aggressive treatment",
"alkylating agents and other immunosuppressive agents"
] | [
"Caucasian"
] | null | [
"contraindication to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers"
] |
hae:18824924 | Hereditary angioedema in a family presenting as transient periarthritis. | [
"Hereditary angioedema (HAE) is a rare condition known to cause episodic, self-limiting, nonpruritic, nonpitting edema that involves skin and visceral organs. It may affect any external body surface including face, extremities, and genitalia. Most commonly involved viscera are gastrointestinal and respiratory syste... | [
"<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"
] | null | [
"episodic, self-limiting, nonpruritic, nonpitting edema that involves skin and visceral organs",
"any external body surface including face, extremities, and genitalia",
"viscera are gastrointestinal and respiratory systems",
"severe abdominal pain",
"edema of the bowel wall",
"life threatening laryngeal e... | null | null | null | [
"initially diagnosed with arthritis"
] |
hae:18691993 | Rhabdomyolysis and pancreatitis associated with coadministration of danazol 600 mg/d and lovastatin 40 mg/d. | [
"Danazol is a steroid analogue with anabolic and androgenic effects and is indicated for the treatment of endometriosis, fibrocystic diseases of the breast, and hereditary angioedema. Lovastatin has been prescribed to lower total cholesterol and low-density lipoprotein cholesterol, reducing cardiovascular-related 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 Danazol is a steroid analogue with anabolic and androgenic effects\n <span style=\"font-size: 0.8em; font-... | [
"endometriosis",
"fibrocystic diseases of the breast",
"hereditary angioedema",
"end-stage renal disease",
"diabetes mellitus",
"comorbid illnesses",
"rhabdomyolysis",
"pancreatitis",
"high cholesterol (dyslipidemia)",
"rhabdomyolysis",
"pancreatitis"
] | null | [
"cardiovascular-related morbidity",
"myopathy",
"pancreatitis",
"body mass index, 22.5 kg/m2",
"acute progressive quadriparesis",
"generalized myalgia",
"lasting for 5 days",
"hypertension",
"hypoplastic bone marrow",
"symptoms improved",
"completely disappeared",
"multiple underlying comorbid... | [
"Danazol is a steroid analogue with anabolic and androgenic effects",
"Lovastatin",
"monotherapies",
"danazol and lovastatin",
"receiving concomitant medication",
"receiving calcium bicarbonate 1500 mg/d, labetalol 100 mg/d, and glipizide 10 mg/d",
"receiving alprazolam 0.5 mg/d",
"insomnia",
"lovas... | [
"Asian",
"Taiwan"
] | [
"lower total cholesterol and low-density lipoprotein cholesterol",
"hypercholesterolemia",
"thrombocytopenia",
"elevated creatine kinase (68,193 U/L)",
"elevated pancreatic enzymes (amylase/lipase, 361/2788 U/L)",
"elevated liver enzymes (aspartate/alanine aminotransferase, 1496/1493 U/L)",
"laboratory ... | [
"without focal sensory loss, numbness, dizziness, diplopia, dysarthria, dysphagia, or sphincter incontinence)"
] |
hae:18680708 | Acute edema blisters in a hereditary angioedema cutaneous attack. | [
"Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts. Acute edema blisters or hydro-static bullae develop after rapid accumulation of interstitial fluid usually associated to cardiac insufficiency. ... | [
"<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 autosomal dominant disease"
] | [
"recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts",
"Acute edema blisters or hydro-static bullae",
"cardiac insufficiency",
"break up easily resolving without scars",
"Blisters disappear",
"recurrent acute edema blisters",
"cutaneous hereditary angioedema att... | null | null | [
"fluid accumulation resolves"
] | null |
hae:18467921 | Successful resolution of bowel obstruction in a patient with hereditary angioedema. | [
"Hereditary angioedema (HAE), a rare genetic disorder caused by a deficiency of the C1 esterase inhibitor, leads to an episodic, self-limiting increase in vascular permeability. Related symptoms commonly include recurrent, intractable abdominal pain, vomiting, and/or diarrhea. DX-88 (ecallantide), a 60-amino acid r... | [
"<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"
] | [
"rare genetic disorder"
] | [
"episodic, self-limiting increase in vascular permeability",
"recurrent, intractable abdominal pain",
"vomiting",
"diarrhea",
"acute HAE attacks",
"severe abdominal pain",
"cramping",
"nausea",
"abdominal pain and nausea resolved",
"coincident resolution of the bowel wall edema, with a return to n... | [
"DX-88 (ecallantide), a 60-amino acid recombinant protein",
"DX-88",
"administration of DX-88, 80 mg intravenously",
"DX-88",
"DX-88"
] | null | [
"deficiency of the C1 esterase inhibitor",
"inhibitor of human plasma kallikrein"
] | null |
hae:18447143 | Acquired angioedema associated with hereditary angioedema due to C1 inhibitor deficiency. | [
"Angioedema caused by C1 inhibitor deficiency is a rare disorder that may be either hereditary or acquired, the latter being mainly associated with lymphoproliferative disorders. A 51-year-old woman who had suffered from episodes of acute peripheral edema since she was 12 was diagnosed with hereditary angioedema at... | [
"<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",
"lymphoproliferative disorders",
"hereditary angioedema",
"hematologic disease",
"hereditary angioedema",
"acquired angioedema due to a lymphoma"
] | [
"hereditary"
] | [
"episodes of acute peripheral edema",
"worsening of her symptoms"
] | [
"remained stable",
"stanozolol",
"chemotherapy"
] | null | [
"C1 inhibitor deficiency",
"low levels of C1q",
"abnormal lymphocyte count",
"C1q levels returned to normal values",
"reduction in the levels of C1q"
] | null |
hae:18329867 | [Hereditary angioedema causing colocolic intussusception]. | [
"Hereditary angioedema is a rare, autosomal dominant disease inherited. The cause is a quantitative or qualitative congenital deficit in C1 inhibitor. Various clinical symptoms, in particular of sub-cutaneous, upper airways and digestive origin, have been described. Life threatening conditions may be observed. Litt... | [
"<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"
] | [
"rare, autosomal dominant disease inherited"
] | [
"of sub-cutaneous, upper airways and digestive origin",
"Life threatening conditions",
"digestive tract localization corresponding to intestinal intussusception",
"digestive crisis"
] | [
"curative treatment"
] | null | [
"quantitative or qualitative congenital deficit in C1 inhibitor"
] | null |
hae:18328481 | Contraception in hereditary angioedema. | [
"To report a case of successful use of a transdermal contraceptive in a patient with hereditary angioedema.",
"Case report.",
"University medical center.",
"A patient who had used oral contraceptives contracted SC and submucosal tumefaction every 1 or 2 months. She was diagnosed with type I hereditary angioed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report a case 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 successful use of a transdermal contraceptive\n <span style=\"font-size: 0.8em; font-w... | [
"hereditary angioedema",
"type I hereditary angioedema",
"hereditary angioedema"
] | null | [
"SC and submucosal tumefaction every 1 or 2 months"
] | [
"successful use of a transdermal contraceptive",
"University medical center",
"used oral contraceptives",
"Oral contraceptives were suspended",
"hormonal transdermal contraceptive was started",
"26 months using a transdermal contraceptive",
"26 months of using this treatment",
"use of hormonal contrac... | null | [
"complement C4 deficient",
"C1-inhibitor quantitative deficient"
] | [
"functional C1-inhibitor normal",
"use of oral contraceptives was contraindicated",
"absence of symptoms",
"not experienced any symptoms of the hereditary angioedema"
] |
hae:18291204 | Management of hereditary angioedema during off-pump coronary arterial surgery. | [
"A 62-year-old man presented with coronary artery disease complicated by a history of hereditary angioedema. In preparation, extensive consultation and literature review were completed. Close cooperation between immunology, anesthesiology, and cardiac surgery teams, as well as an off-pump technique led to a favorab... | [
"<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 62-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"coronary artery disease"
] | null | null | [
"off-pump technique"
] | null | null | null |
hae:20306692 | New mutations in C1 esterase inhibitor (SERPING1) in a German family with hereditary angioedema. | [
"Hereditary angioedema (HAE) is a genetically dominant clinical disorder characterized by recurrent, acute oedema of the skin or mucosa, usually involving the extremities, face, larynx and gastrointestinal tract. C1 inhibitor (C1inh) deficiency is linked to the development of HAE, either by decrease of its plasma l... | [
"<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"
] | [
"genetically dominant",
"genetic abnormality of C1inh",
"polymorphism was a heterozygous GTG 458 ATG (Val 458 Met) in exon 8 and the mutation was a one-nucleotide deletion in codon 456 in Exon 8",
"frameshift mutation (CTC456(power)TC) leads to a 45 amino acid larger protein with altered protein sequence",
... | [
"recurrent, acute oedema of the skin or mucosa, usually involving the extremities, face, larynx and gastrointestinal tract"
] | null | null | [
"C1 inhibitor (C1inh) deficiency",
"decrease of its plasma level",
"dysfunctional protein",
"inactive protein"
] | null |
hae:18070231 | Oestrogen-dependent hereditary angio-oedema with normal C1 inhibitor: description of six new cases and review of pathogenic mechanisms and treatment. | [
"Hereditary angio-oedema (HAE) is a rare condition in which there is a deficiency in the quantity or activity of C1 inhibitor (C1INH). Recently, an additional type of HAE with no alterations in the levels or the function of C1INH has been reported. It is defined as HAE with normal C1INH, and named type III HAE or o... | [
"<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 angio-oedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Hereditary angio-oedema (HAE)",
"HAE",
"HAE",
"type III HAE",
"oestrogen-dependent HAE",
"type III HAE",
"pregnancy",
"type III HAE"
] | null | [
"recurrent angio-oedema",
"angio-oedema attacks",
"episodes of laryngeal oedema",
"oestrogen-dependent angio-oedema"
] | [
"oestrogen-based contraceptive treatment"
] | [
"Spain"
] | [
"deficiency in the quantity or activity of C1 inhibitor (C1INH)",
"Levels and functional activity of C1INH were within the normal range"
] | [
"no alterations in the levels or the function of C1INH",
"normal C1INH",
"None",
"responded to corticoids or antihistamines during the attacks",
"normal C1INH"
] |
hae:18063242 | Emergency management of upper airway angio-oedema after routine dental extraction in a patient with C1 esterase deficiency. | [
"Hereditary angio-oedema is rare and potentially life-threatening, being characterised by recurrent episodes of perioral or laryngeal oedema. We describe a 28-year-old woman who developed stridor, orofacial swelling, and drooling several hours after a routine dental extraction. This was initially diagnosed as a spr... | [
"<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 angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Hereditary angio-oedema",
"spreading dental infection"
] | null | [
"recurrent episodes of perioral or laryngeal oedema",
"stridor",
"orofacial swelling",
"drooling",
"complete recovery"
] | [
"routine dental extraction",
"C1 esterase-inhibitor concentrate"
] | null | [
"C1 esterase-inhibitor deficiency"
] | null |
hae:18035804 | Hereditary angioedema: a Taiwanese family with a novel gene mutation. | [
"Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Affected individuals have attacks of swelling involving almost any part of the body. We studied a family with 15 living members, including a 16-year-old girl who had 3 attacks of angioedema in 2 ... | [
"<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"
] | [
"autosomal dominant disorder",
"single nucleotide A deletion at codon 210 of the gene, 1210fsX210, a novel mutation"
] | [
"attacks of swelling involving almost any part of the body",
"3 attacks of angioedema in 2 years"
] | null | null | [
"deficiency of C1 esterase inhibitor (C1-INH)",
"decreased serum levels of C4 and C1-INH"
] | null |
hae:17966958 | Intracranial hypertension associated with danazol withdrawal: a case report. | [
"Pseudotumor cerebri (PTC) is a seldom seen entity characterized by signs and symptoms associated with the intracranial hypertension (IH) without obvious causes. Some medical disorders and exogenous agents have been implicated in the development of PTC. Danazol is a popular gonadotropin inhibitor used for the treat... | [
"<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 Pseudotumor cerebri (PTC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Pseudotumor cerebri (PTC)",
"PTC",
"endometriosis",
"breast disease",
"hereditary angioedema",
"PTC",
"IH"
] | null | [
"signs and symptoms associated with the intracranial hypertension (IH)"
] | [
"exogenous agents",
"Danazol",
"gonadotropin inhibitor",
"danazol treatment",
"discontinued danazol therapy abruptly",
"withdrawal of danazol"
] | null | null | [
"without obvious causes"
] |
hae:17966299 | Hereditary angioedema: a case study. | [
"Hereditary angioedema (HAE) is a condition that results from an autosomal dominant trait. It manifests as attacks of swelling involving the extremities, trunk, abdominal viscera, face, neck, or airway. The attacks may occur spontaneously, without any identifiable trigger, or may be the result of a specific trigger... | [
"<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",
"acute attack of HAE",
"HAE"
] | [
"autosomal dominant trait"
] | [
"attacks of swelling involving the extremities, trunk, abdominal viscera, face, neck, or airway",
"minor tissue trauma",
"abdominal discomfort",
"swelling of the upper extremities",
"laryngeal edema",
"severe airway obstruction",
"acute attack",
"patent, reliable airway",
"Repeated episodes of unexp... | [
"treatment for acute attacks",
"short-term prophylaxis",
"long-term prophylaxis",
"administration of epinephrine and antihistamines",
"Shortterm prophylaxis includes fresh frozen plasma and corticosteroids",
"Long-term prophylaxis",
"use of androgens and antifibrinolytics",
"avoidance of known trigger... | null | null | [
"without any identifiable trigger"
] |
hae:17941288 | Paternal mosaicism and hereditary angioedema in a Taiwanese family. | [
"Hereditary angioedema (HAE) is a rare disorder characterized by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 INH). Most patients with HAE have an absolute deficiency of C1 INH (type I HAE), whereas 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 Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"type I HAE",
"type II HAE)",
"HAE"
] | [
"inherited in an autosomal dominant fashion",
"Mosaicism",
"paternal mosaicism",
"novel mutation c.3_73del, p.N1fsX34 in exon 3 of the C1INH gene",
"Parental mosaicism"
] | [
"recurrent attacks of localized subcutaneous or submucosal edema"
] | null | [
"Taiwanese"
] | [
"deficiency of C1 inhibitor (C1 INH)",
"absolute deficiency of C1 INH",
"synthesize a dysfunctional C1 INH protein",
"analyzed blood levels of C3, C4, and C1 INH",
"C1 INH deficiency"
] | [
"normal serum levels of C1 INH",
"normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children"
] |
hae:17890276 | Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. | [
"C1q deficiency is a rare inherited defect in the early part of the complement cascade. In this report, we describe the varied clinical features of patients with this condition as well as the characteristic autoantibody profile.",
"A large Pakistani family with a high degree of consanguinity is described in which... | [
"<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 C1q deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"fulminant bacterial infection",
"life-threatening immunodeficiency disease"
] | [
"rare inherited defect in the early part of the complement cascade"
] | [
"localized lupus-like skin, renal or CNS disease"
] | null | [
"Pakistani"
] | [
"C1q deficiency",
"autoantibody profile",
"C1q deficiency",
"Autoantibodies to ribonucleoproteins such as anti-Sm and Ro, but not dsDNA, were present",
"C1q deficiency"
] | [
"almost no disease"
] |
hae:17873543 | Gastrointestinal involvement in a case of hereditary angioedema: could the early weaning have had a role? | [
"Hereditary angioedema (HAE) is a noninflammatory disorder due to reduced C1-inhibitor level and/or function and characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swellings involving different organs. A heterogeneous group of mutations in the C1-inhibitor gene ha... | [
"<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)",
"noninflammatory disorder",
"HAE",
"type II HAE"
] | [
"heterogeneous group of mutations in the C1-inhibitor gene"
] | [
"recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swellings involving different organs",
"recurrent abdominal pain for many years",
"ascites",
"gastrointestinal tract",
"hereditary angioedema"
] | null | null | [
"reduced C1-inhibitor level and/or function"
] | null |
hae:17692764 | Effective treatment of hereditary angioedema with fresh frozen plasma in an emergency department. | [
"Hereditary angioedema (HAE) is a rarely seen disorder of C1 inhibitor (C1-INH) deficiency usually manifested by non-pruritic swelling of the skin. Acute exacerbations are not sensitive to conventional medications, and C1-esterase inhibitor concentrates are recommended as the first-line therapy. However, fresh froz... | [
"<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"
] | null | [
"non-pruritic swelling of the skin",
"Acute exacerbations",
"acute exacerbations"
] | [
"C1-esterase inhibitor concentrates",
"fresh frozen plasma",
"fresh frozen plasma"
] | null | [
"C1 inhibitor (C1-INH) deficiency"
] | [
"not sensitive to conventional medications",
"C1-esterase inhibitor concentrates"
] |
hae:17674272 | Hereditary angioedema and pregnancy. | [
"Hereditary Angioedema is a rare but potentially life threatening condition. It is important that Obstetricians are aware of this condition as it affects women in the reproductive years and thus its recognition and proper management in pregnancy is crucial."
] | [
"<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 | null | null | null | null | null |
hae:17653743 | Successful management with C1-inhibitor concentrate of hereditary angioedema attacks during two successive pregnancies: a case report. | [
"[corrected] Hereditary angioedema (HAE) is a rare genetic disorder caused by a deficiency of the plasma protein C1 inhibitor (C1-INH). HAE is characterised by the onset of angioedema, which may develop in one or several organs, and may last from a few hours to several days. Oedema of the upper airway can be life-t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[corrected] \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: ... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"pregnancy"
] | [
"rare genetic disorder"
] | [
"angioedema, which may develop in one or several organs",
"Oedema of the upper airway",
"life-threatening",
"hormonal changes",
"angioedema attacks",
"control the frequent attacks"
] | [
"antifibrinolytic agents",
"replacement therapy with C1-INH concentrate",
"successful management with regular infusions of C1-INH concentrate, of two successive pregnancies",
"During the second half of the first pregnancy",
"C1-INH was administered on demand at home",
"pregnancy",
"on demand treatment w... | null | [
"deficiency of the plasma protein C1 inhibitor (C1-INH)"
] | [
"attenuated androgens are contraindicated"
] |
hae:17597280 | [Can one propose aesthetic surgery to one male or female patient with an hereditary angio-oedema?]. | [
"The hereditary angio-oedema (HAE) is a rare disease characterised by the occurrence of spontaneous or secondary, subcutaneous and submucosal swellings within any part of the body and especially in the upper respiratory tract. Surgery, due to the stress and the oro-tracheal intubation is a high risk situation for s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 hereditary angio-oedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"hereditary angio-oedema (HAE)",
"HAE prophylaxis treatment",
"HAE",
"hereditary angio-oedema"
] | null | [
"spontaneous or secondary, subcutaneous and submucosal swellings within any part of the body and especially in the upper respiratory tract",
"acute attacks",
"masculinization",
"mammary hypotrophy",
"good morphological results"
] | [
"Surgery",
"oro-tracheal intubation",
"surgical operations",
"plastic and aesthetic surgery",
"Androgens",
"danazol: Danatrol for long-term prophylaxis",
"breast implant",
"surgery",
"prophylaxis treatment"
] | null | null | [
"without complication"
] |
hae:17594877 | A successful pregnancy and uncomplicated labor with C1INH concentrate prophylaxis in a patient with hereditary angioedema. | [
"Patients with hereditary angioedema (HAE) need a special concern during pregnancy. Although, the disease has a relatively benign course during pregnancy, maternal mortality has been reported. We present a HAE patient with recurrent attacks during pregnancy, but uncomplicated labor under C1INH concentrate prophylax... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients 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 hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"hereditary angioedema (HAE)",
"pregnancy",
"HAE"
] | null | [
"maternal mortality",
"recurrent attacks during pregnancy",
"uncomplicated labor"
] | [
"C1INH concentrate prophylaxis"
] | null | null | null |
hae:17519583 | A case of angioedema associated with decreased C1 inhibitor activity. | [
"We report a case of a 31-year-old woman who began to notice swelling of her arms at age 20. She was once given a diagnosis of cellulitis, but her symptoms spontaneously resolved. The patient had swelling of the left forearm and palm and was referred to our department for evaluation. She had slight pain but no obvi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a 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 31-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"cellulitis",
"hereditary angioedema",
"type 1"
] | null | [
"swelling of her arms",
"swelling of the left forearm and palm",
"slight pain",
"presence of the typical clinical features"
] | null | null | [
"C1 inhibitor activity was low",
"C3 was normal",
"C4 was low, CH(50) was low",
"positive results on the complement tests",
"A decrease in C1 inhibitor activity and an increase in specific protein concentrations"
] | [
"symptoms spontaneously resolved",
"no obvious weight gain",
"Antinuclear antibody and other autoantibodies, including anti-ds-DNA antibody, anti-RNP antibody, anti-Sm antibody, and anti-SS-A antibody were not detected",
"C1q was normal"
] |
hae:17458439 | Hereditary angioedema presenting in late middle age after angiotensin-converting enzyme inhibitor treatment. | [
"Angioedema due to Cl esterase inhibitor (CI-INH) deficiency may be hereditary (HAE), commonly first occurring in childhood, or acquired (AAE), with onset usually in middle age. Type I HAE exhibits low levels of functionally normal C1-INH. Dysfunctional Cl-INH typifies type II HAE. Patients with type I AAE have low... | [
"<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",
"(HAE)",
"acquired (AAE)",
"Type I HAE",
"type II HAE",
"type I AAE",
"type II AAE",
"type I HAE",
"type I HAE",
"HAE",
"hypertension",
"cardiovascular diseases",
"metabolic diseases"
] | [
"hereditary"
] | [
"life-threatening angioedema",
"angioedema"
] | [
"administration of an angiotensin-converting enzyme (ACE) inhibitor",
"administration of an ACE inhibitor",
"taking the ACE inhibitor lisinopril for 7 years",
"ACE inhibitors"
] | null | [
"Cl esterase inhibitor (CI-INH) deficiency",
"low levels of functionally normal C1-INH",
"Dysfunctional Cl-INH",
"low levels of Cl-INH, Clq complement, and C4 complement",
"immune blockade of C1-INH",
"C1-INH levels",
"complement profile",
"C4 complement and Cl-INH serum levels were below the referenc... | [
"lack of underlying co-pathology",
"not developed any secondary medical conditions"
] |
hae:17457207 | Unilateral lacrimal gland atrophy in a patient with hereditary angioedema. | [
"To report a case of unilateral lacrimal gland atrophy in a patient with hereditary angioedema (HAE).",
"Observational case report with literature review.",
"A 32-year-old woman with HAE presented with dryness and irritation of the left eye (OS). Investigations revealed features of unilateral severe dry OS with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report a case 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 unilateral lacrimal gland atrophy\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE"
] | null | [
"unilateral lacrimal gland atrophy",
"dryness and irritation of the left eye (OS)",
"unilateral severe dry OS",
"atrophy of the ipsilateral lacrimal gland",
"Dry eye",
"Recurrent mucosal and soft-tissue inflammation",
"lacrimal gland atrophy",
"lacrimal gland atrophy"
] | null | null | null | null |
hae:17427507 | [Hereditary angioedema in a 16-year-old girl]. | [
"The angioedema may be connected with immunological or allergic reactions, rarely appears as a genetically determined hereditary disorder. The cause of hereditary genetically determined angioedema is the defect of complement due to lack or decreased activity of Cl esterase inhibitor with the low serum C4 complement... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"angioedema",
"angioedema",
"acquired angioedema",
"lymphoproliferative",
"autoimmunological diseases",
"Hereditary angioedema",
"hereditary angioedema"
] | [
"genetically determined hereditary disorder",
"hereditary genetically determined"
] | [
"immunological or allergic reactions",
"subcutaneous oedema of extremities, face, neck, throat, gastrointestinal tract and brain",
"Life-threatening recurrent episodes of angioedema",
"massive facial oedema",
"recurrence of symptoms"
] | [
"Tranexamic acid, sigma-aminocaproic acid",
"anabolic steroids- Danazol and Stanazol",
"short- and long-term prophylaxis",
"replacement therapy"
] | null | [
"defect of complement",
"lack or decreased activity of Cl esterase inhibitor with the low serum C4 complement"
] | [
"without any effect of typical treatment"
] |
hae:17364082 | Angioedema and systemic lupus erythematosus--a complementary association? | [
"We report angioedema as a rare presentation leading to a diagnosis of systemic lupus erythematosus (SLE).",
"A diagnosis of angioedema was delayed in a patient presenting with limb and facial swelling until she developed acute upper airway compromise. After excluding allergic and hereditary angioedema, acquired ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report \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... | [
"systemic lupus erythematosus (SLE)",
"angioedema",
"acquired angioedema (AAE)",
"SLE",
"AAE",
"Lymphoproliferative disorders",
"SLE"
] | null | [
"angioedema",
"limb and facial swelling",
"acute upper airway compromise",
"respiratory tract infection"
] | [
"high dose steroids and immunosuppressants",
"remains in remission"
] | null | [
"acquired deficiency of inhibitor of C1 component of complement (C1 INH)",
"anti-C1 INH antibodies"
] | [
"excluding allergic and hereditary angioedema",
"without recurrence of the angioedema"
] |
hae:17357566 | [Atypical presentation of hereditary angioedema. A report of a case and literature review]. | [
"Hereditary angioedema is an uncommon disorder mainly caused by defects of the gene for C1 inhibitor. These patients present recurrent edema episodes in the different regions of the body, including larynx edema in some cases. Low plasma levels of C1 inhibitor confirm the diagnosis. It is important to establish an 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"C1 inhibitor deficiency type II"
] | [
"defects of the gene for C1 inhibitor"
] | [
"recurrent edema episodes in the different regions of the body",
"larynx edema",
"multiple alterations in the quality of life",
"history of seven years of evolution",
"daily periorbital, upper and lower extremities and labial edema episodes",
"torpid evolution",
"daily symptoms"
] | [
"substitutive therapy of C1 inhibitor concentrate",
"treatment with attenuated androgens in progressive increased doses"
] | null | [
"Low plasma levels of C1 inhibitor",
"C1 inhibitor deficiency"
] | [
"with poor response",
"without a favorable response"
] |
hae:17264462 | Recurrent abdominal pain due to hereditary angioedema. | [
"Recurrent abdominal pain is a common problem in children that may need invasive procedures for diagnosis. Hereditary angioedema (HAE) is rarely considered in the differential diagnosis. Here it is reported a girl with HAE, who presented initially as recurrent abdominal pain without cutaneous manifestations. Each 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 Recurrent abdominal pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Hereditary angioedema (HAE)",
"HAE"
] | null | [
"Recurrent abdominal pain",
"recurrent abdominal pain"
] | [
"invasive procedures",
"acute surgical emergency",
"exploratory laparotomy"
] | null | [
"quantitative assay of C1 inhibitor"
] | [
"without cutaneous manifestations"
] |
hae:17165268 | Acute pancreatitis due to hereditary angioedema. | [
"Hereditary angioedema (HAE) is an infrequent disorder characterized by abnormalities in the levels and/or function of complement C1 esterase inhibitor. Clinical manifestations of HAE are due to recurrent episodic swelling of the subcutaneous or submucosal tissue. When swelling involves the gastrointestinal mucosa,... | [
"<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",
"acute pancreatitis",
"HAE-associated pancreatitis",
"HAE-associated acute pancreatitis",
"acute pancreatitis",
"HAE",
"HAE"
] | null | [
"recurrent episodic swelling of the subcutaneous or submucosal tissue",
"swelling involves the gastrointestinal mucosa",
"nausea",
"vomiting",
"diarrhea",
"severe abdominal pain",
"abdominal symptoms",
"abort ongoing attacks"
] | [
"intensive medical care",
"conservative and supportive measures"
] | null | [
"abnormalities in the levels and/or function of complement C1 esterase inhibitor"
] | [
"No other obvious origin, such as gallstones or alcohol use, was identified"
] |
hae:17153888 | Repeated massive tongue swelling due to the combined use of estramustine phosphate and angiotensin-converting enzyme inhibitor. | [
"A 70-year-old man presenting with a chief complaint of tongue swelling had been diagnosed with prostate cancer 1 year earlier. He had been on an oral angiotensin-converting enzyme inhibitor (ACE) inhibitor for hypertension for 20 years. Two months before the first of 4 episodes of tongue swelling within a period o... | [
"<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 70-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"prostate cancer",
"prostate cancer",
"angioedema"
] | null | [
"tongue swelling",
"4 episodes of tongue swelling",
"period of 40 days",
"massive swelling of the tongue and epiglottis",
"Massive swelling of the tongue and epiglottis disappeared completely"
] | [
"on an oral angiotensin-converting enzyme inhibitor (ACE) inhibitor for hypertension for 20 years",
"oral estramustine phosphate (EMP)",
"tracheotomy",
"EMP was discontinued",
"EMP used concurrently with the ACE inhibitor"
] | null | null | [
"Food allergies, allergic reactions to environmental factors",
"hereditary angioneurotic edema",
"were excluded"
] |
hae:17098477 | Secondary systemic lupus erythematosus: an analysis of 4 cases of uncontrolled hereditary angioedema. | [
"The association of systemic lupus erythematosus and hereditary angioedema (HAE) has formed the basis of numerous case reports and is hypothesised to result from consumption of complement C4 with consequent impaired clearance of apoptotic cells. We describe the development of frank lupus or lupus-like syndrome in f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The association 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 systemic lupus erythematosus\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"systemic lupus erythematosus",
"hereditary angioedema (HAE)",
"frank lupus or lupus-like syndrome",
"HAE",
"HAE",
"secondary SLE"
] | null | [
"uncontrolled angioedema"
] | null | null | [
"consumption of complement C4",
"low levels of serum C4",
"limit hypocomplementaemia"
] | null |
hae:17068406 | Hereditary angioedema associated with heterozygous factor V Leiden mutation in a patient with Purpura fulminans. | [
"Hereditary angioedema (HAE) is an autosomal dominant, quantitative or functional defect of the C1 esterase inhibitor. The main role of the C1 esterase inhibitor is to regulate the activation of the complement system, the contact phase of the intrinsic coagulation system. On the other hand, factor V Leiden is the 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",
"purpura fulminans",
"Thrombosis",
"multifactorial disease",
"HAE"
] | [
"autosomal dominant, quantitative or functional defect of the C1 esterase inhibitor",
"factor V Leiden",
"factor V Leiden mutation",
"heterozygous factor V mutation",
"factor V Leiden mutation"
] | [
"recurrent venous thromboembolism",
"livid skin changes on her legs",
"flight",
"edemas in her legs",
"livid skin changes tended to increase",
"skin necrosis",
"both episodes of necrotic skin lesions",
"recurrent angioedema attacks",
"stress",
"physical stimulants such as pressure and heat",
"co... | [
"oral contraceptives",
"put on an oral contraceptive therapy",
"had been put on a hormone replacement therapy due to irregular menstruations",
"pregnancy",
"hormone replacement therapy"
] | null | [
"C1 esterase inhibitor",
"regulate the activation of the complement system, the contact phase of the intrinsic coagulation system",
"activated protein C resistance",
"reduced C1 inhibitor levels"
] | [
"the vital signs were normal"
] |
hae:16792617 | Idiopathic non-histaminergic angio-oedema after routine extubation successfully treated with fresh frozen plasma. | [
"Non-allergic angio-oedema is a potentially life-threatening condition typically seen in patients with hereditary or acquired angio-oedema caused by C1 inhibitor deficiency or an adverse drug reaction to angiotensin converting enzyme inhibitors. We report a case of sudden angio-oedema in a patient who developed sev... | [
"<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-allergic angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Non-allergic angio-oedema",
"acquired angio-oedema",
"idiopathic non-histaminergic angio-oedema"
] | [
"hereditary"
] | [
"potentially life-threatening",
"adverse drug reaction to angiotensin converting enzyme inhibitors",
"sudden angio-oedema",
"severe swelling of the tongue and neck",
"acute, life-threatening attack of idiopathic non-histaminergic angio-oedema"
] | [
"routine extubation",
"resuscitative re-intubation",
"treated with fresh frozen plasma",
"extubation",
"fresh frozen plasma"
] | null | [
"C1 inhibitor deficiency"
] | [
"oedema was refractory to conventional allergy treatment",
"Familial history and exposure to potentially angio-oedema causative drugs were not evident",
"serum complement status was normal",
"no IgE sensitisation was detected"
] |
hae:16783582 | Pregnancy and C1 esterase inhibitor deficiency: a successful outcome. | [
"Hereditary angioedema is a potentially life-threatening condition which can complicate pregnancy. A 34-year-old patient with known C1 esterase inhibitor (C1INH) deficiency was managed successfully in our department and her management was a part of a shared care strategy with the medical and anesthetic departments.... | [
"<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",
"pregnancy"
] | null | [
"abdominal pain"
] | [
"shared care strategy with the medical and anesthetic departments",
"Peripartum management plans",
"anesthetic plan",
"admitted at term",
"aggressive management strategy with C1INH concentrate",
"normal vaginal delivery"
] | null | [
"C1 esterase inhibitor (C1INH) deficiency"
] | [
"self-limiting"
] |
hae:16634360 | [Hereditary angioedema. A report of a case and literature review]. | [
"Hereditary angioedema is a congenital disorder with recurrent attacks of localized swelling of submucosal and subcutaneous tissue, or both caused by a deficiency of the plasma protein C1 inhibitor. It is caused by heterozygous defects in the C1 inhibitor gene located on chromosome 11q, and it has an autosomal domi... | [
"<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",
"congenital disorder",
"Hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema type 1"
] | [
"heterozygous defects in the C1 inhibitor gene located on chromosome 11q",
"autosomal dominant inheritance pattern"
] | [
"recurrent attacks of localized swelling of submucosal and subcutaneous tissue, or both",
"Skin and visceral organs",
"massive local edema",
"involved viscera are the respiratory and gastrointestinal systems",
"affect the upper airways",
"severe life-threatening symptoms",
"asphyxiation"
] | [
"intravenous purified C1 inhibitor concentrate",
"corticosteroids",
"antihistamines",
"epinephrine"
] | null | [
"deficiency of the plasma protein C1 inhibitor",
"C1 esterase inhibitor and C4 concentrations"
] | null |
hae:16572743 | Hereditary angioedema: a family study. | [
"Hereditary angioedema (HAE) is a rare, life-threatening, autosomal dominant disease characterized by recurrent episodes of angioedema, and caused by a deficiency of the plasma protein C1-esterase inhibitor (C1-INH). Clinical manifestation of HAE may first develop during childhood but typically presents around pube... | [
"<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",
"type 1 HAE"
] | [
"autosomal dominant disease"
] | [
"recurrent episodes of angioedema",
"nonpruritic and non-pitting edema of the subcutaneous and mucosal tissues",
"recurrent painful swelling of face and hands",
"sudden onset of painful swelling of the eyelids and lips"
] | [
"pregnant"
] | [
"Taiwan"
] | [
"deficiency of the plasma protein C1-esterase inhibitor (C1-INH)",
"C3 and C4 were 125 mg/dl and 6 mg/dl, respectively",
"The C4 levels of her elder brother were 6 mg/dl and 13.3 mg/dl on two separate occasions",
"C1-INH antigen serum level and functional assay",
"low C4 and low C1-INH antigenic level and f... | [
"asymptomatic"
] |
hae:16533452 | Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report. | [
"Hereditary angioedema (HAE) is a rare life-threatening disease that can occur in pregnancy.",
"A nulliparous woman was diagnosed as having HAE at 22 weeks of gestation after a series of symptomatic episodes. Following an initial course of C1 esterase inhibitor (C1EI) therapy for an acute episode of HAE, she was ... | [
"<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 life-threatening disease",
"nulliparous",
"HAE",
"acute episode of HAE",
"exacerbations of her HAE",
"HAE in pregnancy",
"pregnancy"
] | null | [
"symptomatic episodes"
] | [
"initial course of C1 esterase inhibitor (C1EI) therapy",
"treated with danazol for prophylaxis",
"its use was discontinued after six weeks",
"treated exclusively with C1EI at weekly intervals",
"At 37 weeks' gestation",
"delivered healthy 3050 g female neonate",
"C1EI"
] | null | null | [
"Danazol did not prevent recurrence of symptoms",
"no signs of virilization or congenital anomalies",
"Low dose danazol was ineffective in treating"
] |
hae:16529817 | Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma. | [
"A patient developed the first case of hepatocarcinoma associated with hereditary angioedema within the context of a 13-year long prophylactic danazol exposure. We sought to identify the molecular defect and to test the relative contribution to the development of hepatocarcinoma of intracellular accumulation of abn... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient developed the first case 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 hepatocarcinoma\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"hepatocarcinoma",
"hereditary angioedema",
"hepatocarcinoma",
"hepatocarcinoma"
] | [
"de novo mutation c.878_881delTCTA",
", leading to a premature stop codon",
"Mutant transcripts compatible with the 4bp deletion",
"low expression of the mutant allele",
"c.878_881delTCTA mutant transcript"
] | null | [
"13-year long prophylactic danazol exposure",
"danazol exposure"
] | null | [
"Monocyte C1-INH secretions of",
"and of her",
"were, respectively, 26 and 18% compared to controls",
"total C1-INH mRNA was found nearly half the amount recovered",
"intracellular abnormal C1-INH protein are unstable"
] | [
"rule out the hypothesis of"
] |
hae:16463755 | Ceftriaxone or HIV associated angio-oedema? Case report. | [
"Angio-oedema may be hereditary or acquired and is characterised by episodes of potentially life threatening localised tissue oedema and swelling resulting from deficiency of compliment pathway C1 esterase inhibitor. Acquired angio-oedema is about ten times less frequent than the hereditary type and has been associ... | [
"<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 Angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Angio-oedema",
"acquired",
"Acquired angio-oedema",
"immune-deficiency disorders",
"malignancies",
"human immune-deficiency virus positive",
"angio-oedema"
] | [
"hereditary"
] | [
"episodes of potentially life threatening localised tissue oedema and swelling",
"exposure to specific medications and food substances",
"gross swelling of the tongue and neck"
] | [
"treatment for pneumococcal meningitis",
"with ceftriaxone"
] | null | [
"deficiency of compliment pathway C1 esterase inhibitor"
] | null |
hae:16451161 | Angioedema from angiotensin-converting enzyme (ACE) inhibitor treated with complement 1 (C1) inhibitor concentrate. | [
"Up to seven in every 1000 patients experience angioedema from angiotensin-converting enzyme (ACE) inhibitors, even after many years of use. In 2003, every 20th Norwegian used an ACE inhibitor.",
"A 61-year-old woman with chronic obstructive pulmonary disease and a past acute myocardial infarction had used 7.5 mg... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Up to seven in every 1000 patients experience \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: bo... | [
"angioedema",
"chronic obstructive pulmonary disease",
"ACE inhibitor-provoked angioedema",
"hereditary angioedema (HAE)",
"HAE",
"ACE inhibitor-provoked angioedema",
"ACE inhibitor-provoked angioedema"
] | null | [
"past acute myocardial infarction",
"edema of the tongue",
"edema of the tongue progressed over the next 8 h",
"made the tongue protrude",
"glassy edema of the arytenoids",
"Inspiratory stridor was heard",
"increasingly uneasy",
"restless",
"stridor gradually subsided",
"calmed",
"able to talk",... | [
"angiotensin-converting enzyme (ACE) inhibitors",
"ACE inhibitor",
"used 7.5 mg of ramipril daily for the past 7 years",
"acetylsalicylic acid, simvastatin, theophylline and salmeterol",
"250 mg of hydrocortisone and 5 mg of dexchlorpheniramine were given intravenously (i.v.)",
"0.3 mg of epinephrine was ... | null | [
"excess bradykinin formation",
"C1 inhibitor deficiency",
"excess bradykinin",
"ACE breaks down bradykinin"
] | [
"could not speak",
"limited effect of steroids, antihistamines and epinephrine",
"normal C1 inhibitor values"
] |
hae:16445789 | Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men. | [
"Recurrent angio-oedema is a sign of various acquired and inherited disease entities, including hereditary angio-oedema types I and II that result from a genetic deficiency of C1 inhibitor, and a recently described type of dominantly inherited angio-oedema, which does not show a deficiency of C1 inhibitor. Until no... | [
"<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 Recurrent angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"hereditary angio-oedema types I and II",
"dominantly inherited angio-oedema",
"hereditary angio-oedema",
"hereditary angio-oedema type III",
"hereditary angio-oedema",
"hereditary angio-oedema",
"hereditary angio-oedema"
] | [
"genetic deficiency of C1 inhibitor"
] | [
"Recurrent angio-oedema"
] | [
"intake of angiotensin-converting enzyme inhibitors"
] | null | [
"normal C1 inhibitor",
"normal C1 inhibitor",
"normal C1 inhibitor"
] | [
"does not show a deficiency of C1 inhibitor",
"normal C1 inhibitor"
] |
hae:16353410 | Hereditary angioneurotic edema of the larynx. | [
"Hereditary angioneurotic edema (HAE) is an autosomal dominant disease resulting from a deficiency of functional C1-esterase inhibitor. If not recognized promptly and treated properly the disease can result in a fatal outcome as it causes laryngeal edema, which can lead to a life-threatening acute upper airway obst... | [
"<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 angioneurotic edema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Hereditary angioneurotic edema (HAE)",
"HAE of the larynx"
] | [
"autosomal dominant disease"
] | [
"laryngeal edema",
"life-threatening acute upper airway obstruction"
] | null | null | [
"deficiency of functional C1-esterase inhibitor"
] | null |
hae:16334540 | [Recombinant human C1-inhibitor is effective in the treatment of acute attacks of hereditary angioedema--case report]. | [
"Hereditary angioedema (HAE) is a rare condition, resting on attacks of edema in various localizations, potentially life-threatening if in facial, laryngeal, pharyngeal or gastrointestinal area. The disease is caused by deficiency or impaired activity of C1 inhibitor, therefore C1 inhibitor infusion is the the esse... | [
"<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",
"severe angioedema"
] | null | [
"attacks of edema in various localizations",
"potentially life-threatening if in facial, laryngeal, pharyngeal or gastrointestinal area",
"severe edema"
] | [
"C1 inhibitor infusion",
"C1 inhibitor",
"is obtained from human plasma",
"synthesis of the recombinant protein with features of human C1 inhibitor",
"Recombinant human C1 inhibitor"
] | [
"Poland"
] | [
"deficiency or impaired activity of C1 inhibitor"
] | null |
hae:16272680 | Acquired angioedema secondary to hormone replacement therapy. | [
"Angioedema is a potentially life threatening condition and may be either inherited or acquired. The latter is rare with only a handful of cases reported in the world literature. Presenting complaints are often vague. Those most commonly described include swelling in the subcutaneous and submucosal tissues. Patient... | [
"<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",
"hormonally induced hereditary angioedema",
"acquired angioedema",
"acquired angioedema"
] | [
"inherited"
] | [
"swelling in the subcutaneous and submucosal tissues",
"laryngeal edema",
"laryngeal spasm"
] | [
"instrumentation",
"hormone replacement therapy",
"hormone replacement therapy"
] | null | null | null |
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