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:27873761 | Hereditary angioedema (HAE): a cause for recurrent abdominal pain. | [
"A 44-year-old Hispanic woman presented to the emergency room with a 2-day history of sudden onset of severe cramping left lower quadrant abdominal pain associated with ∼20 episodes diarrhoea. Abdominal CT scan exhibited bowel wall oedema and acute extensive colitis. On the basis of the preliminary diagnosis of acu... | [
"<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; ... | [
"acute extensive colitis",
"acute abdomen",
"acute colitis",
"HAE type I",
"HAE"
] | null | [
"sudden onset of severe cramping left lower quadrant abdominal pain",
"∼20 episodes diarrhoea",
"bowel wall oedema"
] | [
"admitted under the surgical team"
] | [
"Hispanic"
] | [
"low complement C4 levels",
"abnormally low values of C1q esterase inhibitor"
] | [
"non-specific"
] |
hae:27871580 | C1-esterase inhibitor for short-term prophylaxis in a patient with hereditary angioedema with normal C1 inhibitor function. | [
"Hereditary angioedema with normal C1-esterase inhibitor (HAE-nC1INH) perioperative is a rare condition which could have potential disastrous ramifications for the anesthesiologist in the perioperative period. However, there is limited evidence and/or guidelines on the optimal way to manage these patients. We prese... | [
"<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 with normal C1-esterase inhibitor (HAE-nC1INH) perioperative\n <span style=\"font-si... | [
"Hereditary angioedema with normal C1-esterase inhibitor (HAE-nC1INH) perioperative",
"HAE-nC1INH",
"HAE-nC1INH",
"HAE-nC1INH"
] | null | [
"ongoing lip and facial edema"
] | [
"managed in the perioperative period with plasma derived C1-esterase inhibitor (pdC1INH)",
"total thyroidectomy",
"preoperative plan",
"adequate prophylaxis",
"Both pdC1INH and tranexamic acid were given preoperatively",
"surgery",
"perioperative management",
"pdC1INH",
"prophylactic perioperative t... | null | null | [
"no complications"
] |
hae:27864873 | Hereditary haemorrhagic telangiectasia: to transplant or not to transplant - is there a right time for liver transplantation? | [
"Hereditary haemorrhagic telangiectasia is characterized by arterio-venous malformations (AVM). It frequently involves the liver without clinical symptoms, but may lead to biliary ischaemia, portal hypertension, or fatal high-output heart failure. The indication of liver transplantation is controversial.",
"Herei... | [
"<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 haemorrhagic telangiectasia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Hereditary haemorrhagic telangiectasia",
"double Osler syndrome'",
"hereditary haemorrhagic telangiectasia (HHT)",
"type I hereditary angioedema",
"Hereditary angioedema",
"hepatocellular carcinoma",
"HHT",
"hepatocellular carcinoma",
"hepatic HHT"
] | null | [
"arterio-venous malformations (AVM)",
"biliary ischaemia",
"portal hypertension",
"fatal high-output heart failure",
"multiple hypoechogenic liver masses",
"recurrent epistaxis",
"severe intestinal bleeding",
"severe dyspnoea (NYHA class IV)",
"rapidly progressive high-output cardiac failure",
"co... | [
"liver transplantation",
"treated with danazol for several decades",
"danazol treatment",
"C1 esterase inhibitor infusions",
"liver transplantation",
"argon plasma coagulation",
"treatment with bevacizumab to inhibit angiogenesis",
"transplanted",
"liver transplantation"
] | null | [
"low MELD score"
] | [
"without clinical symptoms"
] |
hae:27837046 | C1 Esterase Inhibitor (Berinert) for ACE Inhibitor-Induced Angioedema: Two Case Reports. | [
"To describe 2 cases of angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema treated with C1 esterase inhibitor (human) [Berinert].",
"Case 1 is a 60-year-old Caucasian male with angioedema from lisinopril. He was initially treated with a conventional regimen of an antihistamine, methylprednisolone, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe 2 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 angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema\n <span style=\"f... | [
"angioedema",
"angioedema",
"Angioedema",
"hereditary angioedema",
"ACEI-induced angioedema",
"angioedema",
"angioedema"
] | null | [
"clinical improvement",
"symptoms returned",
"quick improvement of symptoms",
"angioedema that is probably related to lisinopril"
] | [
"angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema",
"C1 esterase inhibitor (human)",
"lisinopril",
"treated with a conventional regimen of an antihistamine, methylprednisolone, epinephrine, and fresh frozen plasma",
"intravenous C1 peptide esterase inhibitor (C1INH) was administered",
"em... | [
"Caucasian",
"Caucasian"
] | null | [
"symptoms did not resolve",
"received conventional treatment",
"Endotracheal tube placement was unsuccessful",
"Conventional treatment may be of",
"despite conventional treatment"
] |
hae:27826968 | A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation. | [
"Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash ... | [
"<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 2 hereditary angioedema",
"type 2 hereditary angioedema"
] | [
"congenital",
"mutation in the SERPING1 gene, which encodes C1-INH",
"SERPING1 gene mutation",
"SERPING1 mutation"
] | [
"recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema",
"erythematous rash",
"the extremities, face, gastrointestinal tract",
"and respiratory system",
"respiratory system",
"swelling of the airway",
"restrict breathing",
"life-threatening obstruction",
"recurrent episodic abdomina... | [
"prophylactic tranexamic acid"
] | [
"Korea"
] | [
"deficiency or functional defect in the C1 esterase inhibitor (C1-INH)",
"uncontrolled localized production of bradykinin",
"C4 level was markedly decreased (3.40 mg/dL; normal range: 10-40 mg/dL)",
"very high C1-INH level (81.0 mg/dL; normal range: 21.0-39.0 mg/dL)",
"abnormally low C1-INH activity (less t... | [
"no family history of angioedema"
] |
hae:27756754 | An adolescent with acute abdominal pain and bowel wall thickening. | [
": A 15-year-old girl was admitted with acute crampy abdominal pain and repeated vomiting over the preceding 2 hours; no fever, diarrhoea or abdominal trauma was reported. She had started oestrogen-progestin contraception 3 months ago. She had sought medical advice twice in the previous weeks for self-limiting epis... | [
"<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 15-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | null | null | [
"acute crampy abdominal pain",
"repeated vomiting over the preceding 2 hours",
"self-limiting episodes of right hand swelling",
"unwell",
"in pain",
"severe tenderness in the right lower quadrant",
"impressive wall thickening (>1 cm) of the terminal ileum, caecum and ascending colon"
] | [
"started oestrogen-progestin contraception 3 months ago"
] | null | null | [
"no fever, diarrhoea or abdominal trauma",
"without urticaria",
"without guarding or rebound tenderness",
"Bowel sounds were diminished",
"Blood tests were unremarkable"
] |
hae:27725554 | Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation. | [
"We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient with hereditary angioedema type I. The patient had experienced \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... | null | [
"heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4",
"de novo mutation"
] | [
"recurrent abdominal pain around the time of her menstrual period for 13 years"
] | null | null | [
"reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH)"
] | null |
hae:27725018 | Angio-oedema associated with colistin. | [
"A 50-year-old woman known to have type 1 diabetes mellitus presented with a rare case of angio-oedema associated with colistin use. The angio-oedema was temporally associated with the use and discontinuation of colistin with the reasonable exclusion of important differential diagnoses. Pseudoallergy may be a proba... | [
"<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 50-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"type 1 diabetes mellitus",
"hereditary angio-oedema type 2 or 3"
] | null | [
"angio-oedema",
"angio-oedema",
"Pseudoallergy",
"renal impairment",
"angio-oedema"
] | [
"colistin use",
"discontinuation of colistin",
"concomitant medications (particularly enalapril)"
] | null | null | null |
hae:27617473 | Hereditary angioedema: 44 years of diagnostic delay. | [
"We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 64-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"hereditary angioedema (HAE) type II",
"HAE"
] | null | [
"recurrent visible swelling attacks",
"episodes with severe upper airway edema"
] | [
"4 emergency tracheotomies"
] | null | [
"functional C1-INH deficiency"
] | [
"does not respond to traditional anti-allergic therapy"
] |
hae:27502825 | Angiotensin-converting enzyme inhibitor-associated angioedema treated with c1-esterase inhibitor: A case report and review of the literature. | [
"A 59-year old man currently on >5 years of angiotensin-converting enzyme inhibitor (ACEI) therapy presented to the emergency department with angioedema of the tongue and difficulty swallowing. After receiving conventional therapy of antihistamine, steroids, and epinephrine, the patient's condition continued to det... | [
"<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 59-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"ACEI-associated angioedema (AAE)",
"hereditary angioedema",
"ACEI-AAE",
"ACEI-AAE"
] | null | [
"angioedema of the tongue",
"difficulty swallowing",
"continued to deteriorate",
"rapid resolution of symptoms",
"prevent airway compromise",
"rapid resolution of symptoms"
] | [
"currently on >5 years of angiotensin-converting enzyme inhibitor (ACEI) therapy",
"conventional therapy of antihistamine, steroids, and epinephrine",
"imminent intubation",
"treated with a C1-esterase inhibitor (C1-INH)",
"further interventions, such as intubation and tracheotomy",
"icatibant, ecallantid... | null | null | [
"avoided airway complications",
"conventional therapy (antihistamine, steroids, and epinephrine)",
"proves ineffective in",
"bradykinin-mediated angioedema"
] |
hae:27491932 | Hereditary angioedema: death after a dental extraction. | [
"Hereditary angioedema (HAE) is a group of three uncommon and potentially fatal conditions, each of which is transmitted as a somatic dominant trait. A recognized trigger to attacks is dental treatment, with tooth extraction frequently reported in the published work. The clinical symptoms may not manifest for many ... | [
"<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"
] | [
"transmitted as a somatic dominant trait"
] | [
"death"
] | [
"dental treatment",
"tooth extraction",
"dental extraction"
] | [
"Australia"
] | null | null |
hae:27401321 | A 47-year-old man with tongue swelling. | [
"Intermittent tongue angioedema can be the initial presentation of several disorders including angiotensin-converting-enzyme inhibitor induced angioedema and hereditary angioedema. Persistent angioedema on the other hand, can be associated with amyloidosis, tumors, thyroid disorders and acromegaly. We present a cas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Intermittent tongue angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"hereditary angioedema",
"amyloidosis",
"tumors",
"thyroid disorders",
"acromegaly"
] | null | [
"Intermittent tongue angioedema",
"Persistent angioedema",
"intermittent episodes of tongue swelling",
"macroglossia"
] | [
"angiotensin-converting-enzyme inhibitor induced angioedema"
] | null | null | null |
hae:27217646 | Acute allergic angioedema of upper lip. | [
"Mishaps can occur during dental procedures, some owing to inattention to detail and others are totally unpredictable. They usually include anaphylaxis or allergic reactions to materials used for restorative purposes or drugs such as local anesthetics. A patient reported to our department with moderate dental fluor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Mishaps can occur during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dental procedures\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"urticaria",
"hereditary atopic eczema",
"cellulitis",
"cheilitis granulomatosa",
"cheilitis glandularis",
"angioedema"
] | null | [
"anaphylaxis",
"allergic reactions to materials used for restorative purposes",
"moderate dental fluorosis",
"acute allergic reaction occurred",
"allergic angioedema of upper lip",
"Anaphylaxis",
"allergy",
"symptoms subsided"
] | [
"dental procedures",
"local anesthetics",
"indirect composite veneering",
"cementation",
"prednisolone 10 mg and cetirizine 10 mg orally, once daily for 3 days",
"dental procedures"
] | null | null | [
"the specific cause could not be identified after allergic testing"
] |
hae:27093898 | First report of icatibant treatment in a pregnant patient with hereditary angioedema. | [
"Hereditary angioedema resulting from C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder, characterized by recurrent attacks of edema formation. The management of pregnant patients with C1-INH-HAE is often a challenge for the physician. There is limited experience with novel therapies. Plas... | [
"<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 resulting\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Hereditary angioedema resulting",
"(C1-INH-HAE)",
"C1-INH-HAE",
"pregnancy",
"type II C1-INH-HAE",
"pregnancy"
] | [
"autosomal dominant disorder"
] | [
"recurrent attacks of edema formation",
"119 attacks"
] | [
"Plasma-derived nanofiltered C1-INH (pnfC1-INH)",
"received the bradykinin B2-receptor antagonist, icatibant, on five occasions, as acute treatment",
"received 108 vials of pnfC1-INH during her pregnancy",
"gave birth to a healthy baby",
"multiple dosing with icatibant during the first trimester of pregnanc... | null | [
"C1-inhibitor deficiency"
] | [
"No side effects",
"free of maternal or fetal adverse effects"
] |
hae:26939307 | CLINICAL CHARACTERISTICS AND TREATMENT OF MELKERSSON-ROSENTHAL SYNDROME--OVERVIEW OF SIX PATIENTS. | [
"Melkersson-Rosenthal syndrome is a rare disease of unknown etiology. Histopathologically, it presents as granulomatous cheilitis. From laboratory aspect, it is a nonspecific, differential diagnostically and therapeutically complex condition.",
"This is a report of six cases treated at the Department of Allergolo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Melkersson-Rosenthal syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Melkersson-Rosenthal syndrome",
"rare disease of unknown etiology",
"Melkersson-Rosenthal syndrome",
"monosymptomatic form of the disease",
"Melkersson-Rosenthal syndrome",
"granulomatous diseases",
"sarcoidosis",
"tuberculosis",
"Chron's disease",
"systemic granulomatous diseases"
] | null | [
"recurring or persistent lip edema",
"complete triad of symptoms",
"oligosymptomatic form",
"transient and unfavorable effects",
"angioneurotic edema",
"hereditary angioedema"
] | [
"the H1 and H2 antihistamines, corticosteroids, followed by anabolic drugs and antibiotics"
] | [
"Serbia"
] | null | null |
hae:26938198 | Hereditary angioedema type I: a case report. | [
"Hereditary angioedema is a rare disease with great heterogeneity of symptoms such as edema of the skin, gastro-intestinal mucosa and larynx or pharynx. Even though there are three types, the most frequent is type I, which is a result from a deficiency of the complement C1 inhibitor. The severity of its symptoms al... | [
"<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",
"type I",
"hereditary angioedema type I"
] | null | [
"edema of the skin, gastro-intestinal mucosa and larynx or pharynx",
"angioedema on arms and legs"
] | [
"administration of complement C1 inhibitor"
] | null | [
"deficiency of the complement C1 inhibitor",
"alpha-1 antitrypsin deficiency"
] | null |
hae:26899516 | Isolated Intestinal Angioedema in the Emergency Department. | [
"Angioedema is a condition that can cause cutaneous and mucosal edema of practically any part of the body. Isolated edema of the intestines is a rather rare manifestation, but it can cause important morbidity. Hereditary angioedema as well as certain medications can give rise to intestinal angioedema. We have seen ... | [
"<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",
"Hereditary angioedema",
"intestinal angioedema",
"intestinal angioedema",
"Intestinal angioedema"
] | null | [
"cutaneous and mucosal edema of practically any part of the body",
"Isolated edema of the intestines",
"intestinal angioedema",
"acute abdominal pain",
"worsening the symptoms"
] | [
"angiotensin-converting enzyme inhibitors",
"purified C1-inhibitor, icatibant, or ecallantide"
] | null | null | [
"administering the wrong treatment",
"unnecessary surgical interventions",
"Fresh frozen plasma"
] |
hae:26857308 | Hereditary angioedema type 2 presented as an orbital complication of acute rhinosinusitis. | [
"Hereditary angioedema is an autosomal dominant and life-threatening disorder characterized by recurrent episodes of non-pitting edema affecting the skin, respiratory system and digestive tracts and caused by a congenital deficiency or function defect of the C1 esterase inhibitor. Preseptal cellulitis is defined 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"Preseptal cellulitis",
"dacryocystitis",
"dermal infection",
"sinusitis",
"hereditary angioedema type 2"
] | [
"autosomal dominant",
"congenital deficiency or function defect of the C1 esterase inhibitor"
] | [
"recurrent episodes of non-pitting edema affecting the skin, respiratory system and digestive tracts",
"infection of the tissues of the anterior orbital septum",
"upper respiratory tract infection",
"orbital pain",
"edema on the eyelids",
"erythema",
"fever",
"mimicking a complication of acute sinusit... | null | null | null | null |
hae:26812927 | Hereditary Angioedema Presenting as Recurrent Acute Pancreatitis. | [
"Hereditary angioedema (HAE) may manifest with swelling of the face, extremities, and upper airways. Gastrointestinal symptoms are also common and may include abdominal pain, vomiting, and diarrhea. However, pancreatic involvement is rare and has been reported only in a few adults with previously diagnosed HAE. We ... | [
"<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 pancreatitis",
"HAE",
"HAE",
"HAE",
"recurrent pancreatitis"
] | null | [
"swelling of the face, extremities, and upper airways",
"Gastrointestinal symptoms",
"abdominal pain",
"vomiting",
"diarrhea",
"pancreatic involvement",
"recurrent severe abdominal pain",
"swelling of the extremities",
"pancreatic disease"
] | null | null | [
"elevation in pancreatic enzyme levels",
"low levels of C2, C4, CH50, and C1 esterase inhibitor"
] | [
"without subcutaneous or cutaneous angioedema"
] |
hae:26804713 | [Anesthetic considerations for a patient with hereditary angioedema - A clinical case]. | [
"Hereditary angioedema (HAE), with an estimated prevalence of 1:50 000, is a rare but potentially fatal disease. It may present with recurrent systemic edema of the subcutaneous tissue and mucous membranes. Patients with HAE are at increased risk for clinical worsening with surgical stress, and may develop respirat... | [
"<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 II"
] | null | [
"recurrent systemic edema of the subcutaneous tissue and mucous membranes",
"clinical worsening",
"surgical stress",
"respiratory distress syndrome",
"impaired airway",
"hemodynamic instability"
] | [
"ureteral stent placement via endoscopic approach"
] | null | null | null |
hae:26759410 | Erythema Marginatum as an Early Symptom of Hereditary Angioedema: Case Report of 2 Newborns. | [
"Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare genetic disease that causes recurrent swelling attacks that may affect various body tissues. Angioedematous attacks can be fatal in the case of upper airway edema and are often preceded by prodromal symptoms like erythema marginatum. Initi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema due to C1 inhibitor deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Hereditary angioedema due to C1 inhibitor deficiency",
"(C1-INH-HAE)",
"C1-INH-HAE",
"C1-INH-HAE"
] | [
"rare genetic disease"
] | [
"recurrent swelling attacks",
"affect various body tissues",
"Angioedematous attacks",
"upper airway edema",
"prodromal symptoms",
"erythema marginatum",
"profound and recurrent erythema marginatum",
"prodromal symptoms",
"angioedematous attacks",
"initial symptoms of the potentially life-threaten... | null | null | null | null |
hae:26725563 | Angiotensin Converting Enzyme Inhibitor-related Angioedema: A Case of an Unexpected Death. | [
"Angioedema is an asymmetric non-pitting oedema on face, lips, tongue and mucous membranes; any delay in diagnosis and treatment can be fatal. Treatment with lisinopril as an angiotensin converting enzyme (ACE) inhibitor, can be a reason of angioedema. Here we report a case who developed oral-facial edema four year... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"angioedema",
"angioedema",
"angioedema",
"hypertension",
"Non- allergic angioedema",
"acquired (AAO)",
"hereditary (HAE)",
"pseudoallergic angioedema (PAS)",
"idiopathic angioedema (IAO)",
"hereditary angioedema"
] | null | [
"asymmetric non-pitting oedema on face, lips, tongue and mucous membranes",
"oral-facial edema",
"Laryngeal oedema",
"death",
"swelling on her face and neck",
"skin edema",
"life threatening laryngeal edema",
"died",
"insufficient respiration",
"cardiac arrest"
] | [
"lisinopril as an angiotensin converting enzyme (ACE) inhibitor",
"lisinopril/hydrochlorothiazide",
"fresh frozen plasma, C1 inhibitor concentrations and BRK-2 antagonists (bradykinin B2 receptor antagonists)",
"renin-angiotensin-aldosterone system (RAAS) blocker-dependent",
"intravenous methylprednisolone,... | null | null | [
"Despite the initial treatment",
"no history of kidney disease"
] |
hae:26486119 | Hereditary angioedema presenting as irritable bowel syndrome: a case of early closure. | [
"Abdominal pain is one of the most common reasons for outpatient and emergency department visits. We present one such case of early closure in a 32-year-old male with recurrent abdominal pain who was diagnosed with irritable bowel syndrome (IBS). Family history was suspicious for hereditary angioedema (HAE). The 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 Abdominal pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"early closure",
"irritable bowel syndrome (IBS)",
"HAE",
"IBS",
"HAE"
] | null | [
"Abdominal pain",
"recurrent abdominal pain",
"improvement in symptoms and quality of life"
] | [
"prophylactic therapy"
] | null | null | null |
hae:26429506 | The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. | [
"Angioedema is a localized and self-limiting edema of the subcutaneous and submucosal tissue. Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is the best characterized form of hereditary angioedema. In C1-INH-HAE, the reduced plasma levels of C1-INH cause instability of the contact system with relea... | [
"<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",
"Hereditary angioedema with C1 inhibitor deficiency",
"(C1-INH-HAE)",
"hereditary angioedema",
"C1-INH-HAE",
"C1-INH-HAE",
"angioedema",
"C1-INH-HAE",
"acute attacks",
"C1-INH-HAE",
"C1-INH-HAE"
] | null | [
"localized and self-limiting edema of the subcutaneous and submucosal tissue",
"angioedema",
"recurrent skin swelling",
"abdominal pain",
"potentially life-threatening upper airways obstruction",
"life-threatening"
] | [
"short- and long-term prophylaxis"
] | null | [
"reduced plasma levels of C1-INH",
"instability of the contact system",
"release of bradykinin",
"C1-INH deficiency"
] | null |
hae:26419114 | [Perioperative Management of a Patient with Hereditary Angioedema: A Case Report]. | [
"Hereditary angioedema (HAE) is a very rare disease that occurs in about 1 in 50,000 to 150,000 people. HAE is caused by low levels or inproper function of the plasma protein C1 inhibitor (C1-INH) which regulates activation of the complement system and the coagulation system. The typical symptom of HAE is regional ... | [
"<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 attacks do not respond to antihistamines, corticosteroids noradrenaline",
"HAE",
"HAE"
] | null | [
"regional swellings",
"physical trauma or emotional stress",
"swelling attacks against face and throat",
"potentially life-threatening",
"laryngeal edema",
"laryngeal edema"
] | [
"radical cystectomy of the upper gum",
"general anesthesia",
"oral surgery with tracheal intubation",
"given C1-INH before operation",
"C1-INH"
] | null | [
"low levels or inproper function of the plasma protein C1 inhibitor (C1-INH) which regulates activation of the complement system and the coagulation system"
] | [
"without pain nor itching",
"Unlike allergic edema",
"no edema was recognized",
"without any complications"
] |
hae:26416949 | Off-Label Use of Agents for Management of Serious or Life-threatening Angiotensin Converting Enzyme Inhibitor-Induced Angioedema. | [
"To evaluate the place in therapy of fresh frozen plasma (FFP), C1 esterase concentrate (C1-INH), ecallantide, and icatibant in the management of angiotensin-converting enzyme inhibitor-induced angioedema (ACEI-IA).",
"A literature search was performed using PubMed (1946 through August 2015) and Embase (<1966 thr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To evaluate the place in therapy 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 fresh frozen plasma (FFP), C1 esterase concentrate (C1-INH), ecallantide\... | [
"ACEI-IA",
"acute attacks of hereditary angioedema",
"bradykinin-mediated event",
"ACEI-IA",
"ACEI-IA",
"ACEI-IA",
"ACEI-IA",
"hereditary angioedema",
"serious life-threatening ACE-IA"
] | null | [
"rapid symptom resolution (10 minutes to 6 hours)",
"self-limiting event",
"Symptom progression",
"life-threatening",
"rapid resolution of symptoms"
] | [
"fresh frozen plasma (FFP), C1 esterase concentrate (C1-INH), ecallantide",
"icatibant",
"angiotensin-converting enzyme inhibitor-induced angioedema (ACEI-IA)",
"FFP",
"FFP and C1-INH",
"ecallantide",
"Off-label icatibant",
"avoidance of intubation and tracheotomy",
"ACEI discontinuation",
"observ... | null | null | [
"No medications"
] |
hae:26409672 | Use of C1 Inhibitor for Angiotensin-Converting Enzyme (ACE) Inhibitor-Induced Angioedema Decreases Mechanical Ventilation Time. | [
"Angiotensin-converting enzyme (ACE) inhibitor-induced angioedema is a rare, albeit serious emergency that can result in airway compromise and potentially death if not treated promptly. Currently, there are no agents approved by the Food and Drug Administration to target ACE inhibitor angioedema and to prevent intu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiotensin-converting enzyme (ACE) inhibitor-induced angioedema\n <span style=\"font-size: 0.8em; font-we... | [
"Angiotensin-converting enzyme (ACE) inhibitor-induced angioedema",
"ACE inhibitor angioedema",
"hereditary angioedema",
"drug-induced angioedema"
] | null | [
"airway compromise",
"death",
"alleviating inflammation associated with ACE inhibitor angioedema",
"swelling of his lips",
"swelling progressed to the patient's tongue",
"swelling dramatically improved"
] | [
"prevent intubation",
"C1 inhibitors",
"lisinopril",
"hypertension",
"C1 inhibitor",
"prevent intubation",
"arrival of the medication",
"intubated emergently for airway protection",
"receipt of the C1 inhibitor",
"successfully extubated",
"less than 18 hours",
"C1 inhibitors",
"minimize mech... | null | null | [
"Despite receiving diphenhydramine, ranitidine, and methylprednisolone"
] |
hae:26396622 | Hereditary angioedema: A rare presentation after anterior cervical discectomy and fusion. | [
"Hereditary angioedema is an autosomal dominant disorder following a genetic defect of C1 inhibitor gene on chromosome 11. This rare condition presents itself as a recurrent attack of submucosal swelling mostly involving skin, gastrointestinal tract and upper respiratory airway and exacerbates with any physical 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | [
"autosomal dominant disorder",
"genetic defect of C1 inhibitor gene on chromosome 11"
] | [
"recurrent attack of submucosal swelling mostly involving skin, gastrointestinal tract and upper respiratory airway",
"physical and emotional stress",
"laryngeal edema",
"fatality"
] | [
"effective treatment"
] | null | null | null |
hae:26392288 | Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema. | [
"Hereditary angio-oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII-HAE). We report two Brazilian FXII-HAE families segregating the mutation c.983 C>A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The homozygous female pat... | [
"<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)",
"FXII-HAE"
] | [
"heterozygous mutations in the factor XII gene (FXII-HAE)",
"segregating the mutation c.983 C>A (p.Thr328Lys)",
"homozygous mutation",
"homozygous female",
"heterozygous female",
"FXII-HAE mutation carrier",
"homozygous FXII-HAE mutation status"
] | [
"severe phenotype",
"severe phenotype",
"mild phenotype",
"manifest symptoms"
] | null | [
"Brazilian"
] | null | [
"normal C1 inhibitor"
] |
hae:26341649 | Current treatment options for idiopathic angioedema. | [
"Idiopathic angioedema is defined as localized swelling of the cutaneous and mucosal tissue that occurs in episodes without a clear etiology. It can be problematic to treat when the underlying pathophysiology is not well understood.",
"To identify successful treatments of idiopathic angioedema reported in the lit... | [
"<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 Idiopathic angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Idiopathic angioedema",
"idiopathic angioedema",
"idiopathic angioedema",
"idiopathic angioedema",
"hereditary angioedema",
"idiopathic angioedema",
"angioedema"
] | null | [
"localized swelling of the cutaneous and mucosal tissue"
] | [
"bradykinin receptor antagonists (icatibant), kallikrein inhibitors (ecallantide), and C1 inhibitors",
"Anti-IgE monoclonal antibody (omalizumab)",
"tranexamic acid"
] | null | null | [
"without a clear etiology"
] |
hae:26228930 | Death due to obstruction of the upper airways caused by edema of the laryngeal mucosa in the course of hereditary angioedema. | [
"A rare case of death of a young man due to airway obstruction in the course of angioedema (Quincke's edema). Type I hereditary angioedema due to C1 esterase inhibitor deficiency had been diagnosed in the man while he was alive. The information concerning the man's health state was given in the Public Prosecutor's ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A rare 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 death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Type I hereditary angioedema"
] | null | [
"death",
"airway obstruction",
"angioedema (Quincke's edema)",
"death"
] | null | null | [
"C1 esterase inhibitor deficiency"
] | null |
hae:26170526 | Refractory Angioedema in a Patient with Systemic Lupus Erythematosus. | [
"Angioedema secondary to C1 inhibitor deficiency has been rarely reported to be associated with systemic lupus erythematosus. A genetic defect of C1 inhibitor produces hereditary angioedema, which is usually presented with cutaneous painless edema, but edema of the genital area, gastrointestinal and laryngeal tract... | [
"<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",
"systemic lupus erythematosus",
"hereditary angioedema",
"lupus",
"lupus nephritis"
] | [
"genetic defect of C1 inhibitor"
] | [
"cutaneous painless edema",
"edema of the genital area, gastrointestinal and laryngeal tracts",
"angioedema",
"angioedema",
"rapid course of disease progression",
"acute renal failure",
"alveolar hemorrhage"
] | null | null | [
"C1 inhibitor deficiency",
"acquired type of C1 inhibitor deficiency",
"antibody formation directed against the C1 inhibitor molecule"
] | [
"without response to high dose steroid and plasmapheresis"
] |
hae:26164979 | HEREDITARY ANGIOEDEMA: A Literature Review and National Management Guidelines. | [
"Hereditary angioedema, a rare and potentially life-threatening condition, is the result of a defect in the C1 esterase inhibitor. Primary care physicians should be familiar with this condition to avoid complications and improve quality of care.",
"We present two cases of hereditary angioedema followed by a discu... | [
"<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"
] | null | null | [
"drug therapy"
] | null | [
"defect in the C1 esterase inhibitor"
] | null |
hae:26155193 | Coexistence of hereditary angioedema in a case of familial Mediterranean fever with partial response to colchicine. | [
"Hereditary angioedema (HAE) is a very rare and potentially life-threatening genetic disease characterised by episodes of edema in various parts of the body, including the extremities, face, and airway. The disease is usually associated with attacks of abdominal pain. On the other hand, familial Mediterranean fever... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"familial Mediterranean fever (FMF)",
"FMF",
"undiagnosed HAE",
"HAE",
"FMF",
"HAE",
"HAE and FMF"
] | [
"genetic disease",
"inherited"
] | [
"episodes of edema in various parts of the body, including the extremities, face, and airway",
"attacks of abdominal pain",
"recurrent episodes of painful inflammation in the abdomen, chest, or joints",
"partial",
"partial response is obtained",
"life-threatening complications",
"upper airway obstructio... | [
"colchicine treatment",
"FMF treatment"
] | null | null | null |
hae:26011518 | Subcutaneous self-injections of C1 inhibitor: an effective and safe treatment in a patient with hereditary angio-oedema. | [
"A 25-year-old woman presented to our clinic with a history of recurrent swelling and abdominal symptoms for > 20 years. The patient's father was similarly affected. The patient was diagnosed with hereditary angio-oedema (HAE) due to C1 inhibitor deficiency. This was initially managed with systemic androgens, but t... | [
"<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 25-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angio-oedema (HAE)",
"HAE"
] | null | [
"recurrent swelling",
"abdominal symptoms for > 20 years",
"symptoms of hyperandrogenism",
"intolerable"
] | [
"systemic androgens",
"Treatment with icatibant (an antagonist of bradykinin B2 receptors)",
"therapy to prophylactic treatment with C1 inhibitor",
"route of administration to subcutaneous injections of C1 inhibitor 1000 U in 10 mL twice weekly, using a subcutaneous infusion kit",
"subcutaneous injections o... | null | [
"C1 inhibitor deficiency"
] | [
"completely symptom-free",
"found the repeated intravenous injections unacceptable",
"free of symptoms"
] |
hae:25987924 | Anaphylaxis due to head injury. | [
"Both anaphylaxis and head injury are often seen in the emergency department, but they are rarely seen in combination. We present a case of a 30-year-old woman who presented with anaphylaxis with urticaria and angioedema following a minor head injury. The patient responded well to intramuscular epinephrine without ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anaphylaxis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"anaphylaxis",
"angioedema",
"hereditary angioedema",
"angioedema",
"anaphylaxis"
] | null | [
"head injury",
"anaphylaxis",
"urticaria",
"angioedema",
"minor head injury",
"head injury"
] | [
"intramuscular epinephrine",
"dental procedures",
"maxillofacial surgery"
] | null | null | [
"without further complications or airway compromise"
] |
hae:25958076 | Neurofeedback in Hereditary Angioedema: A Single Case Study of Symptom Reduction. | [
"Neurofeedback training was performed consisting of rewarding and encouraging 12-15 Hz brainwaves (SMR), while simultaneously discouraging 4-7 Hz brainwaves (theta) and 22-30 Hz brainwaves (high beta) in the right dorsal posterior quadrant of the brain (T4, P4) for 20 half-hour NFB sessions to determine the impact ... | [
"<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 Neurofeedback training\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Hereditary Angioedema"
] | null | [
"rewarding and encouraging 12-15 Hz brainwaves (SMR)",
"discouraging 4-7 Hz brainwaves (theta) and 22-30 Hz brainwaves (high beta) in the right dorsal posterior quadrant of the brain (T4, P4)",
"quality of life inventory"
] | [
"Neurofeedback training",
"20 half-hour NFB sessions",
"acute attack medication usage"
] | null | [
"cortisol levels",
"DHEA-S levels"
] | null |
hae:25931832 | Management of acute attacks of hereditary angioedema: role of ecallantide. | [
"Hereditary angioedema (HAE) is characterized as an episodic swelling disorder with autosomal dominant inheritance. Clinical features include nonpitting edema of external or mucosal body surfaces, and patients often present with swelling of the extremities, abdominal pain, and swelling of the mouth and throat, whic... | [
"<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)",
"episodic swelling disorder",
"HAE",
"HAE",
"acute HAE attacks",
"acute attacks of HAE",
"HAE",
"nonhistaminergic angioedema",
"acute attacks of HAE"
] | [
"autosomal dominant inheritance"
] | [
"nonpitting edema of external or mucosal body surfaces",
"swelling of the extremities",
"abdominal pain",
"swelling of the mouth and throat",
"asphyxiation",
"acute HAE episodes",
"statistically significant improvement in symptoms",
"anaphylaxis",
"anaphylaxis"
] | [
"long-term prophylaxis",
"short-term prophylaxis",
"management of acute attacks",
"supportive measures",
"of medications",
"Ecallantide, a recombinant protein that acts as a reversible inhibitor of kallikrein",
"treated with 30 mg of ecallantide",
"ecallantide",
"Ecallantide",
"Ecallantide",
"me... | null | null | [
"no associated urticaria",
"nonhistaminergic angioedema",
"not due to HAE",
"cannot be self-administered"
] |
hae:25913082 | Cardiac arrest due to airway obstruction in hereditary angioedema. | [
"Hereditary angioedema (HAE) is a rare genetic disease caused by a deficiency of functional C1 esterase inhibitor that causes swelling attacks in various body tissues. We hereby report a case of out-of-hospital cardiac arrest due to airway obstruction in HAE. Cutaneous swelling and abdominal pain attacks caused by ... | [
"<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",
"Hereditary angioedema",
"HAE"
] | [
"rare genetic disease"
] | [
"swelling attacks in various body tissues",
"out-of-hospital cardiac arrest",
"airway obstruction",
"Cutaneous swelling",
"abdominal pain attacks",
"gastrointestinal wall swelling",
"laryngeal swelling",
"life-threatening laryngeal edema",
"life-threatening swellings",
"asphyxiation"
] | null | null | [
"deficiency of functional C1 esterase inhibitor"
] | null |
hae:25856920 | Recurrent intestinal obstruction with acquired angio-oedema, due to C1-esterase inhibitor deficiency. | [
"A 52-year male with past history of ulcerative colitis 20 years back (now in remission), developed recurrent small intestinal obstruction at intervals of a few months. CT scan did not detect the cause initially. A repeat CT scan (USA) showed interbowel fluid with transient ascites (serum albumin normal). Angio-oed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 52-year\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"ulcerative colitis",
"Angio-oedema",
"chronic low grade small B cell lymphoma"
] | null | [
"recurrent small intestinal obstruction at intervals of a few months",
"interbowel fluid",
"transient ascites"
] | [
"remission",
"Rituximab 375 mg/m2 at intervals of one week for 4 weeks",
"Transexamic acid (500 mg TDS) for last 1½ years"
] | null | [
"low C4 with C1-esterase inhibitor (C1-INH) deficiency"
] | [
"CT scan did not detect the cause initially",
"serum albumin normal)",
"asymptomatic"
] |
hae:25796748 | [Diagnosis and treatment of hereditary angioedema: clinical illustration and brief literature review]. | [
"Hereditary angio-oedema is an autosomal dominant transmitted disease that is characterized by swellings of the subcutaneous or mucosal tissues. The edematous manifestations develop over a few hours and disappear spontaneously in a few days. This disease, which is due to an excess of bradykinine, a peptide that ind... | [
"<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",
"angioedema mediated by histamine",
"urticaria",
"angio-oedema",
"hereditary angio-oedema"
] | [
"autosomal dominant transmitted"
] | [
"swellings of the subcutaneous or mucosal tissues",
"edematous manifestations",
"disappear spontaneously",
"edema",
"laryngeal obstruction"
] | null | null | [
"excess of bradykinine, a peptide that induces vasodilatation",
"increases vascular permeability"
] | [
"inefficiency of antiallergic therapies to treat the crises",
"without urticaria"
] |
hae:25767713 | Angiotensin-converting enzyme inhibitors-induced angioedema treated by C1 esterase inhibitor concentrate (Berinert®): about one case and review of the therapeutic arsenal. | [
"C1 esterase inhibitor (Berinert®) is generally used to treat severe attack of hereditary angioedema. We describe here the case of a patient who presented with a severe angioedema induced by angiotensin-converting enzyme inhibitors (ACEIs) endangering her life. It could be successfully treated with that medicine."
... | [
"<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 (Berinert®)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"severe attack of hereditary angioedema"
] | null | [
"severe angioedema",
"endangering her"
] | [
"C1 esterase inhibitor (Berinert®)",
"angiotensin-converting enzyme inhibitors (ACEIs)"
] | null | null | null |
hae:25735130 | [A case of hereditary angioedema defined by gene analysis]. | [
"Hereditary angioedema (HAE) is a disease that is characterized by localized edema that can occur anywhere in the body, and is caused by a mutation of the C1-inhibitor gene. In the oto-rhino-laryngological region, it occurs in the mouth, pharynx, larynx, and on the face. Occasionally, laryngopharyngeal edema can in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE"
] | [
"mutation of the C1-inhibitor gene",
"mutation of the C 1-inhibitor gene in Exon7"
] | [
"localized edema that can occur anywhere in the body",
"oto-rhino-laryngological region",
"in the mouth, pharynx, larynx",
"laryngopharyngeal edema",
"fatal",
"laryngopharyngeal edema",
"subcutaneous edema during pregnancy",
"ascites of unknown origin"
] | null | null | [
"low C1 inhibitor and complement C4 levels"
] | [
"without a definitive diagnosis",
"normal C1q levels",
"no family history of HAE",
"without family history"
] |
hae:25663093 | Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe. | [
"Complement immunodeficiencies (excluding hereditary angioedema and mannose binding lectin deficiency) are rare. Published literature consists largely of case reports and small series. We collated data from 18 cities across Europe to provide an overview of primarily homozygous, rather than partial genotypes and 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 Complement immunodeficiencies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Complement immunodeficiencies",
"hereditary angioedema",
"mannose binding lectin deficiency",
"serious invasive infections",
"Neisseria meningitidis infections",
"Streptococcus pneumoniae infections",
"classical pathway defects",
"classical pathway defects",
"Inflammatory/autoimmune diseases",
"t... | [
"homozygous, rather than partial genotypes"
] | [
"serious bacterial infections"
] | [
"antibiotic prophylaxis",
"prophylactic antibiotics"
] | [
"Europe"
] | [
"C2 deficiency",
"defects in 11 other complement factors",
"terminal pathway defects"
] | null |
hae:25650214 | Lesson of the month 2: The limitations of steroid therapy in bradykinin-mediated angioedema attacks. | [
"Acute angioedema attacks are conventionally treated with antihistamines and steroids, in line with a presumed mechanism of disease involving overwhelming mast-cell degranulation. This approach overlooks a small but important minority of cases in which attacks are bradykinin driven and exhibit poor responsiveness 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 Acute angioedema attacks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"autoimmune disease (acquired angioedema)"
] | null | [
"Acute angioedema attacks",
"bradykinin driven",
"control acute symptoms",
"recurrent attacks",
"recurrent angioedema"
] | [
"antihistamines and steroids",
"steroid therapy",
"administration of a bradykinin inhibitor, or more commonly, a C1 esterase inhibitor substitute",
"reduce the probability of invasive airway insertion",
"C1 esterase inhibitor sparing therapy",
"treat-the-cause approach"
] | null | [
"overwhelming mast-cell degranulation"
] | [
"poor responsiveness to steroid or anti-histamine therapy",
"initially uncertain aetiology"
] |
hae:25635988 | Treatment with icatibant in the management of drug induced angioedema. | [
"Acute, drug-induced angioedema may not respond to standard therapies, because the pathogenetic mechanism that induces the pathology is not always mediated by histamine but, in certain instances, by bradykinin. A case of angioedema is reported here, in which allergic etiology was excluded by the non-response to ant... | [
"<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 Acute, drug-induced angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Acute, drug-induced angioedema",
"angioedema",
"angioedema",
"angioedema"
] | null | [
"repeated use of drugs",
"subjective improvement",
"life-saving",
"life-threatening emergency"
] | [
"beta2 receptor antagonist, icatibant",
"type of medication",
"icatibant",
"off-label use of a drug",
"icatibant"
] | null | [
"bradykinin",
"hereditary deficiency of C1 inhibitor"
] | [
"not respond to standard therapies",
"allergic etiology was excluded",
"non-response to antihistamines",
"ineffectiveness of standard therapy"
] |
hae:25606032 | Hepatocellular carcinoma in a noncirrhotic liver after long-term use of danazol for hereditary angioedema. | [
"We report a 57-year-old male who was treated with high-dose danazol for hereditary angioedema for more than 30 years; he developed hepatocellular carcinoma in the absence of cirrhosis. Despite surgical resection, he had a recurrence and received sorafenib, but had a poor skin tolerance. Such tumors arising after d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 57-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"hereditary angioedema",
"hepatocellular carcinoma"
] | null | [
"tumors",
"minor lesions found on the liver"
] | [
"treated with high-dose danazol",
"for more than 30 years",
"sorafenib",
"danazol"
] | null | null | [
"absence of cirrhosis",
"Despite surgical resection",
"poor skin tolerance"
] |
hae:25572747 | Bradykinin B2 receptor antagonist off label use in short-term prophylaxis in hereditary angioedema. | [
"Hereditary angioedema type I (HAE-C1-INH) is an inherited disorder characterized by repeated severe angioedema attacks mostly triggered by traumas, emotional stress, increased estrogen levels or surgical procedures, in particular, odontostomatological interventions. Icatibant, a bradykinin B2 receptor antagonist, ... | [
"<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 type I (HAE-C1-INH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Hereditary angioedema type I (HAE-C1-INH)",
"HAE attacks",
"HAE",
"HAE"
] | [
"inherited disorder"
] | [
"repeated severe angioedema attacks",
"traumas",
"emotional stress",
"increased estrogen levels",
"perioperative angioedema attacks"
] | [
"surgical procedures",
"odontostomatological interventions",
"Icatibant, a bradykinin B2 receptor antagonist",
"short-term prophylaxis of angioedema attacks"
] | null | null | null |
hae:25493123 | Gastrointestinal manifestations of hereditary angioedema diagnosed by ultrasound in the emergency department. | [
"Abdominal angioedema is a less recognized type of angioedema, which can occur in patients with hereditary angioedema (HAE). The clinical signs may range from subtle, diffuse abdominal pain and nausea, to overt peritonitis. We describe two cases of abdominal angioedema in patients with known HAE that were diagnosed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Abdominal angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Abdominal angioedema",
"angioedema",
"hereditary angioedema (HAE)",
"abdominal angioedema",
"HAE",
"HAE"
] | null | [
"subtle, diffuse abdominal pain",
"nausea",
"overt peritonitis",
"isolated abdominal complaints",
"intraperitoneal free fluid",
"bowel wall edema"
] | null | null | null | [
"no signs of oropharyngeal edema",
"no ionizing radiation"
] |
hae:25485317 | Hereditary angioedema and anxiety in oral surgery: a case series report. | [
"Hereditary angioedema (HAE) is a rare disease, little known to medical and dental practitioners, but with an increasing hospitalization rate over the years. HAE is due to a C1 esterase inhibitor deficiency/dysfunction that leads to an increased vascular permeability. The airways are the most affected, and life-thr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE"
] | null | [
"life-threatening laryngeal swelling",
"anxiety",
"trauma",
"laryngeal edema",
"acute attacks"
] | [
"invasive procedures",
"oral and maxillofacial surgery",
"long- and short-term prophylaxis",
"treatment",
"controlling anxiety",
"oral surgery"
] | null | [
"C1 esterase inhibitor deficiency/dysfunction",
"increased vascular permeability"
] | [
"no clear cause"
] |
hae:25308409 | Perioperative management of tooth extractions for a patient with hereditary angioedema. | [
"Hereditary angioedema (HAE) is a rare genetic disorder that causes a deficiency in or dysfunction of C1 esterase inhibitor (C1-INH) and is clinically characterized by sudden and recurrent attacks of angioedema. Although almost any part of the body can be affected, HAE is of greatest concern and can be life-threate... | [
"<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"
] | [
"rare genetic disorder"
] | [
"sudden and recurrent attacks of angioedema",
"life-threatening",
"upper airway is involved, particularly the larynx (laryngeal attack)",
"HAE attacks",
"physical or psychological stress",
"attack of HAE",
"death",
"HAE attacks",
"HAE-induced laryngeal attack"
] | [
"Dental treatments",
"routine oral surgical procedures",
"tooth extraction",
"management of tooth extractions"
] | null | [
"deficiency in or dysfunction of C1 esterase inhibitor (C1-INH)"
] | [
"without any apparent trigger"
] |
hae:25259437 | [Hereditary angioedema: strange cause of abdominal pain]. | [
"Hereditary angioedema is an episodic swelling disorder with autosomal dominant inheritance characterized by sudden attacks of peripheral swelling. Patients also commonly have episodic swelling of the wall of hollow viscera, including the bowel.",
"We present a 33-year-old previously healthy male with a complaint... | [
"<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",
"episodic swelling disorder",
"Hereditary angioedema",
"angioedema"
] | [
"autosomal dominant inheritance"
] | [
"sudden attacks of peripheral swelling",
"episodic swelling of the wall of hollow viscera, including the bowel",
"acute-onset intense abdominal pain localized in the epigastrium",
"Pain irradiated to the right lower quadrant",
"five episodes of vomiting",
"thickening of the duodenal wall with liquid in th... | null | null | [
"low C4 complement levels (5.5 mg/dl)",
"30% complement C1 inhibitor activity",
"deficiency (type I) or dysfunction (type II) in complement C1 inhibitor"
] | null |
hae:25241359 | The role of icatibant-the B2 bradykinin receptor antagonist-in life-threatening laryngeal angioedema in the ED. | [
"Angioedema is a localized, sudden, transient, and often recurrent swelling of the deeper layers of the skin or mucosa with no epidermal component. It is caused by vasoactive substances that produce a transient increase in endothelial permeability. Angioedema involving the laryngeal components is a life-threatening... | [
"<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",
"laryngeal angioedema",
"hereditary angioedema",
"acquired drug-induced angioedema",
"hereditary angioedema",
"ACE inhibitor–induced angioedema",
"life-threatening angioedema"
] | null | [
"localized, sudden, transient, and often recurrent swelling of the deeper layers of the skin or mucosa with no epidermal component",
"vasoactive substances",
"Angioedema involving the laryngeal components"
] | [
"angiotensin converting enzyme (ACE) inhibitor–induced laryngeal angioedema",
"new bradykinin receptor inhibitor medication icatibant",
"icatibant"
] | null | [
"transient increase in endothelial permeability",
"histamine release",
"bradykinin induced"
] | [
"not respond to the conventional algorithm of treating allergic induced angioedema"
] |
hae:25228395 | Tissue factor expression on the surface of monocytes from a patient with hereditary angioedema. | [
"Hereditary angioedema (HAE) presents as severe angioedema, which is mostly due to the C1 inhibitor (C1-INH) gene mutations. Environmental factors, minor trauma and oral contraceptives have been reported to induce angioedema attack, but the trigger may often be uncertain. Activated factor XII controlled by C1-INH 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 Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE"
] | [
"C1 inhibitor (C1-INH) gene mutations",
"tissue factor (TF)",
"expression of TF on monocytes"
] | [
"severe angioedema",
"Environmental factors",
"minor trauma",
"angioedema attack",
"edema formation",
"angioedema attacks",
"angioedema",
"angioedema attacks"
] | [
"oral contraceptives"
] | null | [
"Activated factor XII controlled by C1-INH",
"bradykinin generation",
"regulates coagulation cascade",
"coagulation",
"higher levels of FDP and D-dimer",
"initiator of the extrinsic coagulation cascade",
"activating the coagulation pathway",
"reduced functions of C1-INH"
] | [
"absence of an apparent triggering factor",
"in remission"
] |
hae:25225545 | Hereditary angioedema: A rare cause of recurrent abdominal pain. | [
"Hereditary angioedema is a rare autosomal dominant inherited disease which is characterized by an episodic, self-limiting increase in vascular permeability. Symptoms commonly involve in nonpitting, nonpruritic skin swellings. We present a case of hereditary angioedema. The patinets complained of a recurrent abdomi... | [
"<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",
"HAE"
] | [
"rare autosomal dominant inherited disease"
] | [
"episodic, self-limiting increase in vascular permeability",
"nonpitting, nonpruritic skin swellings",
"recurrent abdominal pain",
"significant decrease in the frequency of attacks and the severity of pain",
"abdominal pain",
"acute abdomens"
] | [
"danazole"
] | null | [
"decreased serum C1-inhibitor and C4 concentration"
] | [
"without accompanying skin swelling",
"accepted an unnecessary surgery",
"unnecessary surgeries"
] |
hae:25208595 | Hereditary angioedema: children should be considered for training in self-administration. | [
"Hereditary angioedema is an inherited disease that causes periodic swelling attacks, which can be life threatening and have a major effect on a patient's life. Studies have shown that home therapy for angioedema reduces disease severity, leads to faster relief of symptoms, and improves quality of life. Most studie... | [
"<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",
"angioedema"
] | [
"inherited disease"
] | [
"periodic swelling attacks",
"life threatening",
"faster relief of symptoms",
"improves quality of life",
"reduced frequency and severity of attacks"
] | [
"home therapy",
"quickly learned self-administration",
"self-administration training"
] | null | null | null |
hae:25178775 | Hepatocellular carcinoma after danazol treatment for hereditary angio-oedema. | [
"Hereditary angio-oedema is characterised by recurrent episodes of laryngeal, intra-abdominal, facial or peripheral oedema. Danazol can be used as prophylaxis for recurrent attacks. Hepatotoxicity is a recognised adverse effect of danazol. We report an exceptional case of a danazol-induced hepatocellular carcinoma ... | [
"<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",
"Hepatotoxicity",
"danazol-induced hepatocellular carcinoma",
"hereditary angio-oedema"
] | null | [
"recurrent episodes of laryngeal, intra-abdominal, facial or peripheral oedema",
"recurrent attacks",
"adverse effect of danazol"
] | [
"Danazol",
"prophylaxis"
] | null | null | null |
hae:25119807 | [Another case of the rare complications of chronic lymphocytic leukemia: angioedema]. | [
"Angioedema is a rare but may be serious (laryngeal edema). This is a recurrent edema, subcutaneous and/or submucosal, whose cause is a hereditary or acquired deficiency in C1 inhibiteur (C1 inhibitor fraction of complement). We present the case of a 56 years old patient who showed recurrent episodes of swelling of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"angioedema",
"lymphoproliferative syndrome"
] | [
"hereditary or acquired deficiency in C1 inhibiteur (C1 inhibitor fraction of complement)"
] | [
"laryngeal edema)",
"recurrent edema, subcutaneous and/or submucosal",
"recurrent episodes of swelling of the face and hands"
] | null | null | null | null |
hae:25098147 | [Anesthesia for total hip arthroplasty in a patient with C1 inhibitor deficiency]. | [
"C1 inhibitor (INH) deficiency is characterized by the presence of angioedema of the extremities, face, airway and the gastrointestinal tract. Airway obstruction is the most common cause of mortality. A 78-year-old woman presented with repeated episodes of angioedema. These episodes were triggered by general anesth... | [
"<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 (INH) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | null | null | [
"angioedema of the extremities, face, airway and the gastrointestinal tract",
"Airway obstruction",
"mortality",
"repeated episodes of angioedema",
"prophylaxis of attacks",
"Postoperative pain",
"attacks triggered by pain",
"angioedema on both lower extremities"
] | [
"general anesthesia",
"dental extraction",
"venipuncture",
"vaccination",
"loxoprofen",
"C1 inhibitor concentrate was administered perioperatively",
"Operation",
"neurolept anesthesia and combined spinal-epidural anesthesia",
"avoid airway manipulation",
"patient-controlled epidural anesthesia",
... | null | [
"C1 inhibitor (INH) deficiency",
"C1 inhibitor deficiency"
] | [
"The familiy history of similar symptoms was negative",
"did not develop further attacks"
] |
hae:27366422 | Anaesthetic Management of a Patient with Hereditary Angioedema. | [
"Hereditary angioedema (HAE) is a rare autosomal dominant disorder caused by reduced activity of the C1 esterase inhibitor. Clinically, angioedema most often involves the upper extremities, face, neck and larynx. The most common cause of death is asphyxia related to laryngeal oedema. Attacks are triggered by many 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 Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"hereditary angioedema"
] | [
"rare autosomal dominant disorder"
] | [
"angioedema",
"involves the upper extremities, face, neck and larynx",
"death",
"asphyxia",
"laryngeal oedema",
"trauma",
"stress",
"infections",
"hormonal fluctuations"
] | [
"C1 esterase inhibitor concentrates, fresh frozen plasma (FFP)",
"androgen steroids",
"quinine pathway inhibitors",
"antifibrinolytics",
"anaesthetic management",
"laminectomy surgery"
] | null | [
"reduced activity of the C1 esterase inhibitor"
] | null |
hae:25065835 | Orthodontic treatment for a patient with hereditary angiodema: a case report. | [
"Hereditary angiodema (HAE), also known as C1 esterase inhibitor deficiency, causes sufferers to experience episodic subcutaneous and submucosal oedema. These episodes can be triggered by dental treatment and manifest as life-threatening oedematous swelling in the head and neck region.",
"This case report reviews... | [
"<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 angiodema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Hereditary angiodema (HAE)",
"hereditary angiodema",
"HAE"
] | null | [
"episodic subcutaneous and submucosal oedema",
"life-threatening oedematous swelling in the head and neck region",
"malocclusion"
] | [
"dental treatment",
"orthodontic intervention",
"dental treatment",
"Trial placement of a sectional fixed appliance",
"comprehensive treatment including extractions and fixed orthodontic appliances",
"successful interdisciplinary management facilitating orthodontic care"
] | null | [
"C1 esterase inhibitor deficiency"
] | null |
hae:25052839 | Amitriptyline and bromazepam in the treatment of vibratory angioedema: which role for neuroinflammation? | [
"Vibratory angioedema is a rare form of physical urticaria, hereditary or acquired, which occurs at body sites exposed to vibrations. Pathogenic mechanisms of disease are not completely clear and, consequently, current pharmacological treatment is sometimes unsatisfactory. We report the case of a horn player affect... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Vibratory angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"physical urticaria",
"acquired",
"cutaneous/mucosal diseases",
"mucosal diseases",
"vibratory angioedema"
] | [
"hereditary"
] | [
"Vibratory angioedema",
"body sites exposed to vibrations",
"acquired vibratory angioedema",
"relapsing after prolonged use of the instrument",
"neuroinflammatory mechanism",
"vibratory angioedema",
"complex interplay of homeostatic/allostatic systems",
"physical/psychological stressors",
"between n... | [
"therapy with low doses of amitriptyline and bromazepam",
"pharmacological activity of benzodiazepines",
"typical antidepressants"
] | null | null | [
"resistant to systemic antihistamines and corticosteroids"
] |
hae:24968556 | Recurrent angio-oedema--three cases of C1 inhibitor deficiency. | [
"C1 Inhibitor deficiency is a rare disorder, characterised by recurrent angio-oedema of skin, upper respiratory and gastrointestinal tracts. It can be a mimicker of acute abdomen or anaphylaxis to drug or food and lead on to unnecessary overtreatment. Three case reports of such patients with history of recurrent ab... | [
"<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 deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | null | null | [
"recurrent angio-oedema of skin, upper respiratory and gastrointestinal tracts",
"acute abdomen",
"anaphylaxis to drug or food",
"recurrent abdominal pain",
"angio-oedema"
] | null | null | [
"C1 Inhibitor deficiency",
"C1 Inhibitor deficiency"
] | [
"unnecessary overtreatment"
] |
hae:24931134 | [Prophylactic use of icatibant before tracheal intubation of a patient with hereditary angioedema type III. (A literature review of perioperative management of patients with hereditary angioedema type III)]. | [
"Type III hereditary angioedema is a rare familial disorder that has recently been described as a separate condition. Triggers for episodes of angioedema include surgery, dental procedures, and tracheal intubation maneuvers. Since episodes affecting the upper airway are potentially life-threatening, prophylactic tr... | [
"<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 Type III hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Type III hereditary angioedema",
"type iii hereditary angioedema"
] | [
"rare familial disorder"
] | [
"episodes of angioedema",
"episodes affecting the upper airway",
"potentially life-threatening"
] | [
"surgery",
"dental procedures",
"tracheal intubation maneuvers",
"prophylactic treatment",
"use of icatibant (Firazyr(®)), for prevention of angioedema",
"prior to tracheal intubation"
] | null | null | null |
hae:24865240 | A rare cause of recurrent priapism: hereditary angioedema. | [
"Hereditary angioedema is a rare disease, which is caused by deficiency of compleman c1 esterase inhibitor regulatory protein in the compleman system. Priapism is involuntary, painful and prolonged erection of penis more than 4 h without sexual desire. In this case report, we elucidated a patient diagnosed with her... | [
"<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"
] | null | [
"Priapism",
"involuntary, painful and prolonged erection of penis more than 4 h",
"recurrent priapism"
] | null | null | [
"deficiency of compleman c1 esterase inhibitor regulatory protein in the compleman system"
] | [
"without sexual desire"
] |
hae:24850548 | Improving patient outcomes in hereditary angioedema: reducing attack frequency using routine prevention with C1 inhibitor concentrate. | [
"Hereditary angioedema (HAE) is a rare inherited disorder, characterised by recurrent oedema attacks in various regions of the body. In HAE, mutations in the C1 esterase inhibitor (C1-INH) gene result in decreased C1-INH concentrations (type I HAE) or functionally deficient C1-INH (type II HAE), leading to inapprop... | [
"<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",
"HAE"
] | [
"rare inherited disorder",
"mutations in the C1 esterase inhibitor (C1-INH) gene"
] | [
"recurrent oedema attacks in various regions of the body",
"acute attacks",
"prevent attacks",
"high number of breakthrough HAE attacks",
"HAE attack"
] | [
"replacement C1-INH or bradykinin B2 receptor antagonist)",
"prophylaxis (using C1-INH or attenuated androgens)",
"undergoing long-term prophylaxis with attenuated androgens",
"Androgen therapy was safely discontinued",
"routine prevention therapy with C1-INH (1000 U) introduced as part of an individualised... | null | [
"decreased C1-INH concentrations",
"functionally deficient C1-INH",
"inappropriate activation of the kallikrein-kinin system",
"release of vasoactive mediators"
] | null |
hae:24817238 | Retropharyngeal pseudoabscess manifesting in nephrotic syndrome. | [
"We describe a case of nephrotic syndrome that manifested as a retropharyngeal pseudoabscess. The patient was a 32-year-old man who presented with a short history of throat discomfort and a choking sensation. Laryngoscopy identified bulging of the posterior pharyngeal wall that partially occluded the laryngeal inle... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 nephrotic syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"nephrotic syndrome",
"nephrotic syndrome",
"acute calcific tendinitis",
"hereditary angioedema",
"myxedema of hypothyroidism",
"nephrotic syndrome"
] | null | [
"retropharyngeal pseudoabscess",
"short history of throat discomfort",
"choking sensation",
"bulging of the posterior pharyngeal wall that partially occluded the laryngeal inlet",
"the prevertebral space was widened",
"fluid in the retropharyngeal and parapharyngeal spaces",
"edema had been caused by no... | [
"surgery",
"radiation therapy"
] | null | [
"marked hypoalbuminemia",
"heavy proteinuria",
"hypercoagulability"
] | null |
hae:24722707 | Postangioedema attack skin blisters: an unusual presentation of hereditary angioedema. | [
"Hereditary angioedema (HAE) is an autosomal dominant disorder characterised by attacks of self-limited swelling affecting extremities, face and intra-abdominal organs, most often caused by mutations in the C1-inhibitor gene with secondary Bradykinin-mediated increased vascular permeability. We describe a 36-year-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 angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE"
] | [
"autosomal dominant disorder",
"mutations in the C1-inhibitor gene"
] | [
"attacks of self-limited swelling affecting extremities, face and intra-abdominal organs",
"painful interdigital bullae",
"acute oedema exacerbation",
"oedema blisters",
"resolution of a flare of HAE"
] | null | null | [
"Bradykinin-mediated increased vascular permeability"
] | [
"Biopsy and cultures of the lesions were negative",
"unnecessary dermatological diagnostic workup and treatment"
] |
hae:24717596 | Isolated non-hereditary angioneurotic oedema of uvula (Quincke's disease) in an adolescent. | [
"A 19-year-old primipara woman was admitted in labour with positive vaginal swab for group B Streptococcus and given benzylpenicillin and ranitidine. She used Entonox for pain relief. She received bupivacaine in the epidural catheter and shortly after developed sensation of foreign body in her throat with muffled v... | [
"<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 19-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Quincke's disease"
] | null | [
"positive vaginal swab for group B Streptococcus",
"sensation of foreign body in her throat with muffled voice",
"isolated angioneurotic oedema of the uvula",
"spectrum of anaphylactic reactions"
] | [
"labour",
"benzylpenicillin and ranitidine",
"used Entonox for pain relief",
"received bupivacaine in the epidural catheter",
"H1 and H2 histamine blockers",
"steroids",
"epinephrine",
"delivery",
"Penicillin, Entonox",
"bupivacaine",
"Airway maintenance",
"observation",
"oxygen therapy",
... | [
"primipara"
] | null | [
"Hereditary form was ruled out",
"normal creatine kinase and reaction to bupivacaine by C1 esterase inhibitor assay"
] |
hae:24702880 | A case of hereditary angioedema who presented with difficulty in urination and globe. | [
"Hereditary angioedema (HEA) is a disease characterized by decreased levels or function of C1 esterase inhibitor (C1-INH). The symptoms of HEA in pediatric age group generally consist of recurrent episodes of soft tissue swelling. These symptoms can be transient, subtle, and varied in severity. Genitourinary system... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HEA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HEA)",
"HEA",
"hereditary angioedema"
] | null | [
"recurrent episodes of soft tissue swelling",
"Genitourinary system",
"angioedema on her hands, fingers, and face",
"difficulty in urination and globe",
"difficulty in urination",
"urinary globe"
] | null | null | [
"decreased levels or function of C1 esterase inhibitor (C1-INH)"
] | null |
hae:24666532 | [Recurrent isolated angioedema as a result of acquired C1 inhibitor deficiency]. | [
"Isolated angioedema may be the presenting symptom of acquired C1 inhibitor (C1-INH) deficiency. C1-INH deficiency is associated with lymphoproliferative disorders. Treatment of the underlying disease can result in a complete reversal of clinical and complement abnormalities. We describe a 41-year-old woman who 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 Isolated angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"lymphoproliferative disorders",
"indolent non-Hodgkin's lymphoma"
] | null | [
"Isolated angioedema",
"recurrent episodes of isolated angioedema",
"angioedema recurred",
"complete clinical and biochemical remission of the acquired angioedema"
] | [
"discontinuation of this drug",
"rituximab"
] | null | [
"acquired C1 inhibitor (C1-INH) deficiency",
"C1-INH deficiency",
"reversal of clinical and complement abnormalities",
"acquired C1-INH deficiency"
] | [
"angioedema was linked to the use of angiotensin receptor blockers"
] |
hae:24656708 | Hereditary angioedema with an estrogen trigger in a 12-year-old. | [
"Hereditary angioedema (HAE) is rare autosomal dominant genetic disorder, commonly affecting girls around the menarche, which manifests clinically as recurrent episodes of angioedema. Laryngeal edema can lead to asphyxiation and death. Traditionally hormones have been avoided in the management due a reported 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 Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE"
] | [
"rare autosomal dominant genetic disorder"
] | [
"recurrent episodes of angioedema",
"Laryngeal edema",
"asphyxiation",
"death",
"flares",
"resolution of her symptoms for the last 14 months"
] | [
"hormones",
"alternative management with a progestin",
"trial of depot medroxyprogesterone acetate",
"estrogens",
"progestins",
"successful treatment with depot medroxyprogesterone acetate",
"progestins",
"alternative management for estrogen-triggered HAE"
] | null | null | [
"failed to receive relief from her symptoms of angioedema with standard treatment"
] |
hae:24654245 | Life-threatening angioedema of the tongue: the detection of the RNA of B henselae in the saliva of a male patient and his dog as well as of the DNA of three Bartonella species in the blood of the patient. | [
"Non-hereditary angioedema is a common disease with a prevalence between 5% and 19% and approximately half of the patients experience a swelling of the tongue. We report a case of a 49-year-old Caucasian man with a gross life-threatening angioedema of the tongue, whose attacks occurred every 4 weeks. The most frequ... | [
"<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-hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Non-hereditary angioedema",
"Bartonella species",
"angioedema"
] | null | [
"swelling of the tongue",
"gross life-threatening angioedema of the tongue",
"every 4 weeks"
] | [
"Treatment with azithromycin plus minocycline"
] | [
"Caucasian"
] | null | [
"angioedema were excluded",
"free from angioedema",
"None of the therapy modalities used to treat the hereditary form or ACE or allergy-induced angioedema"
] |
hae:24565614 | ACE inhibitor-induced angioedema. | [
"Angiotensin-converting enzyme inhibitors (ACEI) are commonly prescribed for blood pressure control and renal protection. ACEI angioedema is a common problem in patients who are taking ACEI, although, in most cases, the disorder is self-limited, and spontaneous episodes of apparently unprovoked angioedema stop with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiotensin-converting enzyme inhibitors (ACEI)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"ACEI angioedema",
"ACEI-induced angioedema",
"hereditary angioedema",
"ACEI angioedema"
] | null | [
"spontaneous episodes of apparently unprovoked angioedema"
] | [
"Angiotensin-converting enzyme inhibitors (ACEI)",
"blood pressure control",
"renal protection",
"ACEI",
"discontinuation of the medication",
"hospitalization",
"intubation",
"airway protection",
"icatibant and ecallantide"
] | null | [
"effect on the kallikrein-kinin system",
"Kallikrein is a protease that converts high-molecular-weight kininogens into kinins, primarily bradykinin",
"kallikrein-kinin activation"
] | [
"self-limited",
"no laboratory studies",
"Conventional treatment with regimens used to control allergic angioedema is ineffective in"
] |
hae:24412907 | Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema. | [
"Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare autosomal-dominant disease caused by mutations in SERPING1 gene. The main clinical feature of C1INH deficiency is the spontaneous edema of the subcutaneous and submucosal layers. More than 280 different mutations scattering the entire SERPI... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH)\n <span style=\"font-size: 0.8em; font-we... | [
"Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH)"
] | [
"rare autosomal-dominant disease",
"mutations in SERPING1 gene",
"mutations scattering the entire SERPING1 gene",
"new mutation in SERPING1 gene",
"mutation (c.685 + 2 T > A) disrupts the donor splice site of intron 4 leading to the loss of exon 4 in mutant mRNA",
"mutant mRNA is mostly degraded",
"surv... | [
"spontaneous edema of the subcutaneous and submucosal layers"
] | null | [
"Spanish"
] | [
"C1INH deficiency"
] | [
"non-"
] |
hae:25745598 | Life threatening angioedema in a patient on ACE inhibitor (ACEI) confined to the upper airway. | [
"ACE inhibitors accounts for 8% of all cases of angioneurotic edema and the overall incidence is 0.1 to 0.7% of patients on ACE inhibitors. It is a leading cause (20-40%) of emergency room visits in the US with angioedema. We report a case of angioedema caused by ACE inhibitors confined to the upper airway after fo... | [
"<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 ACE inhibitors\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"angioedema",
"type II diabetes",
"bipolar affective disorder",
"angioedema secondary to Lisinopril",
"ACEI induced angioedema"
] | null | [
"angioneurotic edema",
"angioedema caused by ACE inhibitors confined to the upper airway",
"persisted for three weeks",
"delayed resolution",
"upper airway edema",
"persisted for a long time",
"desaturated",
"airway obstruction",
"edematous tongue and upper airway",
"severe airway edema",
"airwa... | [
"ACE inhibitors",
"ACE inhibitors",
"four years on treatment with Lisinopril",
"endotracheal intubation and subsequent tracheostomy",
"osteoarthritis in both knees",
"bilateral total knee replacement",
"single-shot epidural anesthesia",
"hypertension managed with Lisinopril for the past four years",
... | [
"Sudanese"
] | [
"C1 inhibitor protein and C4 levels were assayed"
] | [
"vocal cords were not visualized",
"snugly fitting endotracheal tube with no peritubal air",
"no signs of resolution",
"hereditary angioedema",
"be within normal range"
] |
hae:24314780 | Recurrent migratory angioedema as cutaneous manifestation in a familiar case of TRAPS: dramatic response to Anakinra. | [
"Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a hereditary autoinflammatory syndrome characterized by recurrent episodes of fever and localized inflammation. Clinical presentation can be very variable in terms of duration of fever attacks, periodicity, and accompanying manifestations. One ... | [
"<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 Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS)\n <span style=\"font-size: 0.8em; font... | [
"Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS)",
"autoinflammatory syndrome",
"TRAPS",
"TRAPS"
] | [
"hereditary"
] | [
"recurrent episodes of fever",
"localized inflammation",
"fever attacks",
"migrating skin rash with myalgia",
"migrating angioedema",
"migratory angioedema with myalgia"
] | [
"anakinra treatment",
"anakinra treatment"
] | null | null | [
"misdiagnosed for a long period of time"
] |
hae:24068129 | Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review. | [
"In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no ch... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this article, 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) type III (estrogen-dependent or with normal C1 in... | [
"hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor",
")",
"HAE",
"hereditary angioedema"
] | [
"mutations are observed in the encoding gene of the XII factor of coagulation"
] | [
"high-leveled estrogenic conditions",
"pregnancy",
"control of acute symptoms"
] | [
"use of oral contraceptives",
"suspension of the triggering factors"
] | null | null | [
"no change in the C1 inhibitor"
] |
hae:23994767 | Novel duplication in the F12 gene in a patient with recurrent angioedema. | [
"Edema formation is mediated by histamine or bradykinin release and may have several hereditary and acquired causes. In hereditary forms of bradykinin-mediated angioedemas, mutations in the genes encoding C1-inhibitor (SERPING1) as well as coagulation factor XII (F12) have been described. We present a novel F12 gen... | [
"<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 Edema formation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"bradykinin-mediated angioedemas",
"hereditary angioedema"
] | [
"mutations in the genes encoding C1-inhibitor (SERPING1) as well as coagulation factor XII (F12)",
"novel F12 gene mutation, a duplication of 18 base pairs (c.892_909dup)",
"This duplication is causing the repeated presence of 6 amino acids (p.298-303) in the same region of factor XII, as those three mutations"... | [
"Edema formation",
"recurrent angioedema",
"edema formation"
] | null | null | [
"histamine or bradykinin release"
] | [
"normal C1-inhibitor level",
"normal C1-INH function"
] |
hae:23984039 | Anaesthesia Management of a Patient with Hereditary Angioedema with Prophylactic Administration of C1 Esterase Inhibitor: Case report and literature review. | [
"Hereditary angioedema (HAE) is a rare disorder caused by a deficiency of C1 esterase inhibitor. Minor trauma and emotional stress are the most common initiating events leading to contact system activation and excessive uncontrolled bradykinin release. This manifests as angioedema, a vascular reaction of the deeper... | [
"<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 disorder"
] | [
"Minor trauma",
"emotional stress",
"contact system activation",
"angioedema",
"vascular reaction of the deeper layers of the skin and mucous membranes",
"vasodilatation",
"increased permeability",
"tissue swelling",
"Severe angioedema",
"fatal airway obstruction"
] | [
"anaesthetic management",
"dental rehabilitation"
] | null | [
"deficiency of C1 esterase inhibitor",
"excessive uncontrolled bradykinin release"
] | null |
hae:23890533 | Does angiotensin-converting enzyme inhibitor use exacerbate hereditary angioedema? | [
"Approximately 2% of angioedema (AE) patients have a hereditary or an acquired deficiency of the complement 1 (C1) esterase inhibitor (C1 INH) gene. Some case reports indicate an association between angiotensin-converting enzyme inhibitor (ACEI) use and exacerbation of hereditary AE (HAE).",
"The aim of this retr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Approximately 2% of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n angioedema (AE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"angioedema (AE)",
"exacerbation of hereditary AE (HAE)",
"HAE",
"AE",
"AE",
"recurrent AE",
"recurrent AE",
"systemic lupus erythematosus",
"AE"
] | [
"hereditary or an acquired deficiency of the complement 1 (C1) esterase inhibitor (C1 INH) gene"
] | [
"exacerbating HAE"
] | [
"angiotensin-converting enzyme inhibitor (ACEI) use",
"ACEI use",
"Angiotensin-converting enzyme inhibitor use",
"ACEI"
] | null | [
"complement levels measured",
"C1 INH, 55 C1q, 10 C1q IC",
"1500 C4)",
"Low C1 INH",
"abnormal C4, C1q, and C1q IC",
"low C4 level"
] | [
"not taking ACEI",
"normal C1 INH",
"did not find any association"
] |
hae:23676575 | Signs and symptoms preceding acute attacks of hereditary angioedema: results of three recent surveys. | [
"In patients with hereditary angioedema (HAE), premonitory symptoms (\"prodromes\") may appear hours to days before attack onset. It remains to be determined if prodromes could be useful indicators for early treatment initiation. Most published reports of prodromes have been limited to case reports or small case se... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 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-hei... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE"
] | null | [
"premonitory symptoms (\"prodromes\")",
"prodromes",
"prodromes",
"Prodromes",
"prodromes before all or most acute HAE attacks",
"appearance of prodromes in <10% of all attacks",
"prodromal symptoms were related to skin/soft tissue and gastrointestinal tract",
"prodromes",
"angioedema",
"impending... | null | null | null | [
"rarely or never able to predict an attack"
] |
hae:23647478 | C1 inhibitor concentrate treatment of multiple laryngeal attacks in a 53-year-old woman with hereditary angioedema. | [
"This report describes a woman who experienced a high number of laryngeal hereditary angioedema (HAE) attacks during her participation in the IMPACT2 clinical trial of C1-INH concentrate. A 53-year-old caucasian female with a 31-year history of type 1 HAE experienced 16 laryngeal HAE attacks between 3 August 2006 a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes 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 woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"type 1 HAE"
] | null | [
"high number of laryngeal hereditary angioedema (HAE) attacks",
"laryngeal HAE attacks",
"laryngeal attacks",
"median onset of relief of 14 min",
"median time to complete resolution of symptoms of 20 h",
"potentially fatal events"
] | [
"IMPACT2 clinical trial of C1-INH concentrate",
"C1-INH 20 U/kg",
"C1-INH"
] | [
"caucasian"
] | null | [
"no need for redosing"
] |
hae:23625675 | Successful treatment of acute hereditary angioedema attacks with self-administered icatibant in patients with venous access problems. | [
"Hereditary angioedema is a rare and potentially fatal autosomal dominant disorder characterised by unpredictable skin, gastrointestinal tract or respiratory tract oedema. Plasma-derived C1-esterase inhibitors are effective in the prophylaxis or treatment of hereditary angioedema type I and II attacks, but must be ... | [
"<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 I and II attacks",
"hereditary angioedema attacks",
"hereditary angioedema"
] | [
"autosomal dominant disorder"
] | [
"unpredictable skin, gastrointestinal tract or respiratory tract oedema",
"venous access difficulties"
] | [
"Plasma-derived C1-esterase inhibitors",
"Icatibant, a bradykinin B2-receptor antagonist",
"administered subcutaneously",
"icatibant",
"healthcare professional-administered treatment",
"patient-administered treatment of hereditary angioedema attacks",
"icatibant",
"self-administer treatment",
"self-... | null | null | null |
hae:23546362 | Phenytoin induced life threatening macroglossia in a child. | [
"Isolated acquired macroglossia of tongue rarely reported. It occurs due to causes like hereditary angioedema, localized angioedema, etc., Here we describe an 8-year-old boy developing life threatening localized angioedema of tongue due to phenytoin without any association with drug reaction with eosinophilia 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 Isolated acquired macroglossia of tongue\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"hereditary angioedema",
"localized angioedema",
"(DRESS) syndrome"
] | null | [
"Isolated acquired macroglossia of tongue",
"life threatening localized angioedema of tongue",
"isolated peculiar complication"
] | [
"phenytoin",
"Anticonvulsants",
"phenytoin"
] | null | null | [
"without any association with drug reaction with eosinophilia and systemic symptoms",
"pseudolymphoma"
] |
hae:23507325 | Life-threatening complications following orthognathic surgery in a patient with undiagnosed hereditary angioedema. | [
"As described in the literature, hereditary angioedema (HAE) is an autosomal dominant disease that presents with recurrent events of angioedema caused by a) deficiency or b) functional alteration of the plasma protein C1 inhibitor (C1-inh); this enzyme is involved in the regulation of the complement, kallikrein-kin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">As described in the literature, \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:... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE"
] | [
"autosomal dominant disease"
] | [
"recurrent events of angioedema",
"episodes of edema in the larynx, facial structures and tissues, gastrointestinal tract, or extremities",
"Laryngeal edema",
"complications",
"severe facial, pharyngeal, and glottic edema",
"compromised the airway"
] | [
"oral surgery",
"orthognathic surgery",
"emergency tracheal intubation",
"fresh-frozen plasma",
"oral surgery",
"orthognathic surgery"
] | [
"Asiatic"
] | [
"deficiency or",
"functional alteration of the plasma protein C1 inhibitor (C1-inh)",
"regulation of the complement, kallikrein-kinin, fibrinolytic, and coagulation systems",
"C1-inh plasma levels",
"sub-normal concentration"
] | [
"unremarkable medical history"
] |
hae:23425872 | Acute abdominal pain with a spontaneous resolution as a mark to the diagnosis of hereditary angioedema. | [
"Accurate and timely diagnostics of acute abdominal pain, a common emergency, is crucial in decreasing unnecessary surgical interventions. We present the case of a patient, Xh. M. aged 21, transported to emergency after being wakened from sleep by severe, acute abdominal pain. The pain was non-radiating, colic, and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Accurate and timely diagnostics 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 acute abdominal pain\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"hereditary angioedema"
] | [
"de novo mutation"
] | [
"acute abdominal pain",
"severe, acute abdominal pain",
"pain was non-radiating, colic",
"flatulence",
"nausea",
"vomiting",
"acute abdominal pain"
] | [
"wakened from sleep"
] | null | [
"low levels of C4 complement component were 4.56 mg/dl (normal values 10-40)",
"functional C1-esterase INH was 10.29% (normal values 80-130) C1-estrease inhibitor (protein) 4.58 mg/dl (normal values 16-33)"
] | [
"unnecessary surgical interventions",
"family history was negative regarding Angioedema",
"hereditary Angioedema",
"All laboratory and imaging findings were normal",
"avoidance of unnecessary surgical interventions"
] |
hae:23406939 | Ecallantide for treatment of acute attacks of acquired C1 esterase inhibitor deficiency. | [
"Acquired C1 inhibitor (C1-INH) deficiency exposes patients to angioedema recurrences (acquired angioedema [AAE]) mediated by bradykinin pathway activation. C1-INH replacement and specific inhibition of plasma kallikrein with ecallantide have been successful in the treatment of hereditary angioedema (HAE), a more c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acquired C1 inhibitor (C1-INH) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"acquired angioedema [AAE]",
"hereditary angioedema (HAE)",
"AAE",
"AAE",
"AAE",
"AAE",
"HAE",
"Angioedema",
"AAE"
] | null | [
"angioedema recurrences",
"effectively relieved symptoms",
"various manifestations of AAE over 12 acute episodes"
] | [
"C1-INH replacement",
"specific inhibition of plasma kallikrein",
"with ecallantide",
"C1-INH replacement",
"ecallantide, a potent bradykinin pathway inhibitor",
"ecallantide",
"dosing regimens of ecallantide",
"ecallantide",
"DX-88",
"Ecallantide",
"Kallikrein inhibition with ecallantide"
] | null | [
"Acquired C1 inhibitor (C1-INH) deficiency",
"bradykinin pathway activation",
"rapid catabolism"
] | [
"resistance to C1-INH replacement therapy"
] |
hae:23362781 | [Undiagnosed hereditary angioedema in a patient undergoing emergency caesarean section]. | [
"Hereditary angioedema (HAE) is characterized by acute, recurrent attacks of localized edema. Surgical procedures, trauma, and infections have been considered as potential triggers of HAE. Although HAE is a rare genetic disorder, approximately 50-60% of all HAE patients are involved with at least one occurrence of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"rare genetic disorder"
] | [
"acute, recurrent attacks of localized edema",
"infections",
"upper airway obstruction",
"airway trouble",
"HAE-related edema does not respond to typical treatment, such as administration of epinephrine, antihistamines, or glucocorticoids",
"laryngeal attack",
"multiple regions at her lip margin",
"ra... | [
"Surgical procedures",
"trauma",
"emergency caesarean section",
"neuraxial blockade",
"surgery",
"surgery",
"commencement of C1-inhibitor replacement therapy",
"surgery"
] | null | [
"measured values of both complement component 4 (C4) and functional activity of C1-esterase inhibitor (C1-inh), a protein of the complement system",
"low levels"
] | [
"Neither respiratory nor hemodynamic instability",
"without adverse drug reactions"
] |
hae:23092008 | Acquired C1-inhibitor deficiency: a case report. | [
"Angioedema due to C1--inhibitor deficiency may be hereditary (HAE) or acquired (AAE). AAE is a very rare condition, whose prevalence is possibly underestimated, as it is often unrecognized. AAE usually occurs after the fourth decade of life, and it is commonly associated to an underlying disease, mainly lymphoprol... | [
"<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)",
"AAE",
"AAE",
"lymphoproliferative disorders",
"B cell leukaemia",
"AAE",
"AAE"
] | [
"hereditary"
] | [
"recurrent episodes of angioedema involving upper airways",
"severe life-threatening episodes",
"angioedema"
] | null | null | [
"C1--inhibitor deficiency"
] | [
"unresponsive to the usual therapy of common form of angioedema"
] |
hae:23033229 | Thrombotic events associated with C1 esterase inhibitor products in patients with hereditary angioedema: investigation from the United States Food and Drug Administration adverse event reporting system database. | [
"To investigate reports of thrombotic events associated with the use of C1 esterase inhibitor products in patients with hereditary angioedema in the United States.",
"Retrospective data mining analysis.",
"The United States Food and Drug Administration (FDA) adverse event reporting system (AERS) database.",
"... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To investigate reports 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 thrombotic events\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"thrombotic events",
"thrombotic events",
"drug-associated adverse event",
"drug-associated adverse event",
"thrombotic events associated with the use of one C1 esterase inhibitor product (Cinryze)",
"thrombotic events associated with",
"C1 esterase inhibitor product-associated thrombotic events"
] | [
"use of C1 esterase inhibitor products",
"C1 esterase inhibitor products",
"C1 esterase inhibitor product-associated thrombotic events",
"C1 esterase inhibitor product"
] | null | [
"IC₀₂₅ value greater than zero (IC₀₂₅ = 2.91)"
] | null |
hae:23002350 | Angioedema associated with Crohn's disease: response to biologics. | [
"A 46-year-old female patient with terminal ileum Crohn's disease and ankylosing spondylitis presented with recurrent angioedema and urticaria. Investigations ruled out hereditary angioedema, and environmental or food allergen triggers. She was diagnosed with chronic idiopathic urticaria with angioedema, and was tr... | [
"<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 46-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"terminal ileum Crohn's disease",
"ankylosing spondylitis",
"chronic idiopathic urticaria with angioedema",
"chronic idiopathic urticaria with angioedema coexistent with Crohn's disease"
] | null | [
"recurrent angioedema",
"urticaria",
"ongoing bowel and arthritic complaints",
"complete resolution of the angioedema and urticaria, as well as of the bowel and arthritic symptoms",
"allergic reactions to the infliximab"
] | [
"trial of intravenous immunoglobulin immunotherapy, danazol, prednisone and hydroxyzine",
"infliximab infusions",
"2 treatments",
"switched to another anti-tumor necrosis factor (TNF)-α agent, adalimumab",
"anti-TNF-α agents"
] | null | null | [
"ruled out hereditary angioedema, and environmental or food allergen triggers",
"no further angioedema or urticaria",
"Crohn's disease has been quiescent"
] |
hae:22936825 | Icatibant and ACE inhibitor angioedema. | [
"Icatibant is a selective bradykinin 2 receptor antagonist, currently licensed for use in hereditary angioedema. Its benefit in ACE inhibitor angioedema is yet to be fully established. A handful of preliminary case reports suggest that it may be of benefit in reducing both symptom severity and possible hospital or ... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"hereditary angioedema",
"ACE inhibitor angioedema"
] | null | [
"severe oral, pharyngeal and laryngeal oedema"
] | [
"Icatibant",
"selective bradykinin 2 receptor antagonist",
"hospital or intensive care admission",
"Icatibant",
"Icatibant",
"on an ACE inhibitor"
] | null | null | null |
hae:22914816 | Familial amyloidotic polineuropathy and systemic lupus. | [
"Familial amyloidotic polineuropathy is a genetic disorder, leading to systemic amyloid deposits, manifested as sensory-motor and autonomic neuropathy. In the Portuguese classical form, the disease is evident at a young age, and causes death if no specific treatment is received. Variability in penetrance, age of 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 Familial amyloidotic polineuropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Familial amyloidotic polineuropathy",
"late-onset familial amyloidotic polineuropathy",
"systemic lupus erythemathosus"
] | [
"genetic disorder"
] | [
"sensory-motor and autonomic neuropathy",
"death",
"acquired angioedema"
] | null | [
"white"
] | null | [
"no specific treatment is received"
] |
hae:22908833 | Angioedema in progressive muscular dystrophy: a case report. | [
"Systemic allergic reactions, which include angioedema, are very common in clinical practice. There is great diversity in the etiological factors known to trigger angioedema, and in the pathogenetic mechanisms defining this condition. Beside the broad spectrum of immuno-allergic reactions involved in the angioedemi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Systemic allergic reactions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"angioedema",
"non-immune",
"rare neurological diseases",
"myopathies",
"muscular dystrophies",
"progressive muscular dystrophies (PMD)",
"Duchenne muscular dystrophy (DMD)",
"myopathy",
"facioscapulohumeral form of PMD",
"PMD of facioscapulohumeral type",
"primary neurological disorder",
"of ... | [
"hereditary diseases",
"different types of inheritance--X-chromosome recessive, X-chromosome dominant, autosomal dominant"
] | [
"Systemic allergic reactions",
"angioedema",
"immuno-allergic reactions",
"angioedemic pathogenesis",
"serological overlap\"",
"systemic allergic reactions",
"angioedema",
"urticaria",
"angioedema with urticaria",
"massive angioedema on the face, back and chest",
"itchy urticarial rash",
"alle... | null | [
"Plovdiv"
] | [
"cellular immune response",
"specific indices of humoral immunity",
"cellular immunity abnormalities",
"abnormalities in some components of humoral immunity"
] | [
"medical history could not reveal any of the most common etiologic factors such as drugs, food, insects and other allergens that may be associated with the systemic allergic reactions"
] |
hae:22882460 | A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I. | [
"C1 inhibitor (C1INH) plays an important role in the classical pathway of the complement system. Mutations in C1INH gene cause quantitative or qualitative deficiencies in C1INH, which can lead to hereditary angioedema (HAE) type I or II. Here, we identified a novel frame-shift mutation c.1391-1445del55 (p.v464fsx55... | [
"<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 (C1INH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"hereditary angioedema (HAE) type I or II"
] | [
"Mutations in C1INH gene",
"novel frame-shift mutation c.1391-1445del55 (p.v464fsx556) in exon 8",
"55 base pairs deletion abolishes the original stop codon and introduces a new stop codon 220 bp downstream of the original one",
"mutated C1INH protein prolonged from 500 to 556 amino acids",
"novel mutation ... | null | null | [
"large Chinese",
"large Chinese"
] | [
"C1 inhibitor (C1INH)",
"classical pathway of the complement system",
"quantitative or qualitative deficiencies in C1INH",
"The levels of C4 and C1INH as well as C1INH activity in serum were significantly reduced"
] | null |
hae:22584192 | Current options for prophylactic treatment of hereditary angioedema in the United States: patient-based considerations. | [
"Hereditary angioedema (HAE) results from mutations in the C1-esterase inhibitor (C1 INH) gene that decrease production of C1 INH or render it dysfunctional. HAE is characterized by recurrent, unpredictable, bradykinin-mediated edema of the extremities, face, genitalia, trunk, gastrointestinal tract, or upper airwa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"mutations in the C1-esterase inhibitor (C1 INH) gene"
] | [
"recurrent, unpredictable, bradykinin-mediated edema of the extremities, face, genitalia, trunk, gastrointestinal tract, or upper airway",
"Attacks causing laryngeal edema",
"fatal",
"acute attacks",
"Adverse effects",
"weight gain",
"virilization",
"increased hair growth",
"hypercholesterolemia",
... | [
"medications",
"prophylaxis",
"prophylaxis",
"prophylaxis",
"individualized prophylaxis",
"prophylaxis",
"attenuated androgens and nanofiltered C1 INH (C1 INH-nf)",
"pasteurized C1 INH",
"purified C1 INH",
"fresh frozen plasma for preprocedural prophylaxis",
"antifibrinolytics for long-term prop... | null | [
"decrease production of C1 INH or render it dysfunctional"
] | null |
hae:22577920 | Successful perioperative management of a patient with C1 esterase inhibitor deficiency with a novel bradykinin receptor B2 antagonist. | [
"We present the case of a 28-year-old female with a previous diagnosis of C1 esterase inhibitor deficiency presenting for dental extractions under general anaesthesia. Following prophylaxis with a new bradykinin receptor 2 antagonist (icatibant), surgery was carried out uneventfully with an unremarkable postoperati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 28-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | null | null | [
"unremarkable postoperative course"
] | [
"dental extractions",
"general anaesthesia",
"prophylaxis with a new bradykinin receptor 2 antagonist (icatibant)",
"surgery"
] | null | [
"C1 esterase inhibitor deficiency"
] | null |
hae:22573101 | Recurrent anaphylactic reactions: an uncommon debut of lymphocytic hypophysitis. | [
"We report on a 24-year-old male, with exercise-induced asthma and intermittent abdominal pain since puberty, who suffered from recurrent anaphylactic reactions. He also complained of occasional headaches. After extensive studies he was eventually diagnosed with idiopathic anaphylaxis, once the following diagnoses ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 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 24-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"idiopathic anaphylaxis",
"hydatidosis",
"carcinoid syndrome",
"systemic mastocytosis",
"autonomic epilepsy",
"hereditary angioedema",
"pheocromocitoma",
"Meckel diverticle",
"medullar thyroid carcinoma",
"leukemia",
"hypereosinophilic syndromes",
"autoimmune hypophysitis",
"asthmatic",
"l... | null | [
"exercise-induced asthma",
"intermittent abdominal pain",
"recurrent anaphylactic reactions",
"occasional headaches",
"recurrent urticaria",
"slight thickening of the infundibulum",
"recurrent anaphylactic reactions",
"complicated adrenal crises"
] | [
"off-label treatment with omalizumab",
"replacement therapy"
] | null | [
"elevated TSH, decreased T4",
"positive antithyroid antibodies",
"decreased cortisol levels",
"antipituitary antibodies"
] | [
"allergic origin [foods (including ω5-gliadin), latex and drugs]",
"hyper-IgE",
"initially well tolerated",
"normal ACTH",
"The antiadrenal autoantibodies were negative",
"without pituitary adenoma",
"asymptomatic"
] |
hae:22548211 | The first probable case of hereditary angioedema in Vietnam. | [
"Hereditary angioedema (HAE) is rare disorder due to C1-inhibitor deficiency (C1-INH) that are debilitating and may be life-threatening. HAE is a lack of consensus concerning diagnosis, therapy, and management, particularly in Vietnam. In this case report, we report a 40-year-old male patient with typical clinical ... | [
"<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 I HAE"
] | null | [
"life-threatening",
"typical clinical symptoms",
"favorable prophylactic response"
] | [
"danazol treatment"
] | [
"Vietnam"
] | [
"C1-inhibitor deficiency (C1-INH)"
] | [
"normal C4 level",
"we could not measure C1q and C1-INH level",
"normal C4 level"
] |
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