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:8882051 | C1 inhibitor deficiency in a patient with rheumatoid arthritis--increased risk of adverse effects of penicillamine? | [
"We report the coincidence of hereditary angioedema and rheumatoid arthritis in a male patient and in his father. During treatment with D-penicillamine the patient developed a transient lupus-like disorder with glomerulonephritis that resolved when D-penicillamine was discontinued. He later was diagnosed with malig... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the coincidence 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 and rheumatoid arthritis\n <span style=\"font-size: 0.8... | [
"hereditary angioedema and rheumatoid arthritis",
"transient lupus-like disorder with glomerulonephritis",
"malignant lymphoma"
] | null | [
"drug reaction"
] | [
"treatment with D-penicillamine",
"D-penicillamine was discontinued"
] | null | [
"Impaired classical complement pathway function"
] | null |
hae:8964952 | [Hereditary angioneurotic edema in gynecology-obstetrics. Management]. | [
"Hereditary angioneurotic edema is a rare disease (250 cases currently identified in France). It is the most frequent among hereditary deficiencies of the complement system. This severe disease is fatal in 15-20% of the patients before 40 years of age. Death can be prevented if correct steps are taken in case of ev... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Hereditary angioneurotic edema",
"hereditary angioneurotic edema"
] | [
"hereditary"
] | [
"Death",
"minor trauma",
"acute, potentially fatal, episodes",
"acute episodes",
"obstetrical trauma"
] | [
"Danazol",
"preventive therapy before surgery",
"C1-esterase inhibitor or fresh frozen plasma",
"C1-esterase inhibitors",
"prophylaxy or as treatment",
"Fresh frozen plasma",
"Gynecology surgery"
] | [
"France"
] | [
"deficiencies of the complement system"
] | [
"C1-esterase inhibitors are not available"
] |
hae:8529136 | A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema. | [
"Hereditary angioneurotic edema (HANE) is an autosomal dominant disease due to genetic alterations at the C1 inhibitor gene. Mutations within the C1 inhibitor gene are responsible for the molecular defect in type II HANE. Most of the dysfunctional proteins result from mutations involving the Arg-444 (the P-1 site 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 angioneurotic edema (HANE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Hereditary angioneurotic edema (HANE)",
"type II HANE",
"type II HANE"
] | [
"autosomal dominant disease",
"genetic alterations at the C1 inhibitor gene",
"Mutations within the C1 inhibitor gene",
"molecular defect",
"dysfunctional proteins",
"mutations involving the Arg-444 (the P-1 site of the reactive center) or amino acids NH2-terminal to the reactive center",
"missense muta... | null | null | [
"Spanish",
"Spanish"
] | null | null |
hae:7618673 | Hereditary angioneurotic oedema: current management in pregnancy. | [
"A 20-year-old primiparous woman, with a history of type 1 hereditary angioneurotic oedema, presented for induction of labour. She was hirsute, obese and presented technical difficulties for both general and epidural/spinal anaesthesia. Her management included prophylactic C1 esterase inhibitors and epidural analge... | [
"<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 20-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"hirsute",
"abdominal pain"
] | [
"induction of labour",
"obese",
"general and epidural/spinal anaesthesia",
"prophylactic C1 esterase inhibitors",
"epidural analgesia",
"pain relief",
"spontaneous vaginal delivery"
] | null | null | [
"no adverse complications"
] |
hae:7607898 | [Life threatening angioedema caused by acquired C1 inhibitor deficiency associated with paraproteinemia and livedo racemosa]. | [
"A 61-year-old patient with life-threatening angioneurotic oedema was found to have an acquired C1-inhibitor (C1-INH) deficiency. In addition to lowered serum levels of C1-INH (both protein concentration and enzymatic activity), C2, C4 and CH50, which are characteristic for the hereditary form of angioneurotic oede... | [
"<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 61-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"life-threatening angioneurotic oedema",
"angioneurotic oedema",
"livedo reticularis",
"cessation of angioneurotic oedema"
] | [
"danazol"
] | null | [
"acquired C1-inhibitor (C1-INH) deficiency",
"lowered serum levels of C1-INH (both protein concentration and enzymatic activity), C2, C4 and CH50",
"markedly lowered C1q was found",
"acquired C1-INH deficiency",
"persistent paraproteinaemia",
"paraproteinuria",
"rise of the complement fraction levels",
... | [
"no antibodies against C1-INH",
"no neoplasm",
"livedo reticularis persisted unchanged"
] |
hae:7745572 | Cutaneous necrosis in pregnancy secondary to activated protein C resistance in hereditary angioedema. | [
"A 26-year-old woman with hereditary angineurotic oedema (HAE) presented at 22 weeks gestation with severe cutaneous necrosis similar to that seen in coumarin skin necrosis. Protein S deficiency secondary to HAE and pregnancy was postulated. Treatment with heparin, C1-inhibitor concentrates, systemic steroids and s... | [
"<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 26-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"HAE",
"pregnancy"
] | null | [
"hereditary angineurotic oedema (HAE)",
"severe cutaneous necrosis similar to that seen in coumarin skin necrosis",
"Cutaneous necrosis"
] | [
"Treatment with heparin, C1-inhibitor concentrates, systemic steroids",
"surgical debridement"
] | null | [
"Protein S deficiency",
"reduced function protein S activity",
"evidence of activated protein C resistance",
"activated protein C resistance"
] | [
"normal levels of protein C, antithrombin III, total protein S, free protein S"
] |
hae:7872288 | Hereditary angioedema: an infrequent cause of abdominal pain with ascites. | [
"Patients with hereditary angioedema have episodes of local swelling, usually affecting the face, extremities, upper airway, and gastrointestinal tract. Only infrequently does it cause recurrent abdominal pain (with or without ascites); however, because it has potentially life-threatening complications, an early di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"hereditary angioedema",
"type I hereditary angioedema"
] | null | [
"episodes of local swelling, usually affecting the face, extremities, upper airway, and gastrointestinal tract",
"recurrent abdominal pain (with or without ascites",
"life-threatening complications",
"severe recurrent and self-limited abdominal pain",
"ascites",
"during these episodes"
] | [
"4-yr period of treatment with danazol"
] | null | [
"quantitative deficit of C1 inhibitor)",
"levels of C4 and C1 inhibitor that remained below normal limits"
] | [
"virtually asymptomatic",
"no major side effects that could be attributed to treatment with androgens"
] |
hae:7846659 | [A fatal case of hereditary angioedema]. | [
"A 27 year old woman suffered from recurrent attacks of laryngeal oedema due to C1-inhibitor deficiency, and was treated with danazol and tranexamic acid. The trachea was intubated with great difficulty, twice on one occasion. Two and a half years later she was admitted to the Intensive Care Unit with dyspnoea and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 27 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angio-oedema"
] | null | [
"recurrent attacks of laryngeal oedema",
"dyspnoea",
"dysphagia",
"dyspnoea",
"sudden airway collapse",
"severely cyanotic with a pulse of thirty",
"dilated pupils",
"convulsions",
"cerebral oedema",
"died"
] | [
"danazol and tranexamic acid",
"trachea was intubated",
"Intensive Care Unit",
"Tranexamic acid, corticosteroids, adrenaline (also inhalated)",
"tracheostomy",
"small tube was eventually inserted into the trachea after four minutes",
"treatment with pentothal, mannitol and hyperventilation",
"intraven... | null | [
"C1-inhibitor deficiency"
] | [
"Attempts to ventilate by mask, puncture of the cricothyroid membrane and intubation were unsuccessful",
"traditional treatment is inadequate"
] |
hae:7822653 | Acquired deficiency in C1-inhibitor associated with signet ring cell gastric adenocarcinoma: a probable connection of antitumor-associated antibodies, hemolytic anemia, and complement turnover. | [
"Acquired deficiency in C1-inhibitor (C1-INH) associated with malignancy is often asymptomatic because clinical manifestations are not dependent on a critical complement threshold (in contrast to hereditary C1-INH deficiency). Increased complement consumption involving different kinds of antibodies is the postulate... | [
"<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 deficiency in C1-inhibitor (C1-INH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"malignancy",
"signet ring cell adenocarcinoma (linitis plastica)"
] | null | [
"three episodes of angioedema over 6 months",
"complete disappearance of the symptoms of angioedema",
"local recurrence of the tumor 5 months later could not be resected",
"died",
"recurred"
] | [
"gastrectomy",
"splenectomy",
"initial surgery",
"tumor removal"
] | null | [
"Acquired deficiency in C1-inhibitor (C1-INH)",
"hereditary C1-INH deficiency",
"Increased complement consumption involving different kinds of antibodies",
"complement profile characteristic of acquired deficiency in C1-INH",
"hemolytic anemia",
"hemolytic anemia",
"persistent excessive complement consu... | [
"asymptomatic",
"clinical manifestations are not dependent on a critical complement threshold",
"unremarkable medical history"
] |
hae:7978537 | Tonsillectomy in a patient with hereditary angioedema after prophylaxis with C1 inhibitor concentrate. | [
"A 15-year-old young man with a history of recurrent streptococcal pharyngitis and hereditary angioedema presented for tonsillectomy. Preoperative physical examination was normal with the exception of enlarged pharyngeal tonsils with crypts and pustules; there was no evidence of angioedema. Laboratory studies were ... | [
"<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; ... | [
"recurrent streptococcal pharyngitis",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"enlarged pharyngeal tonsils with crypts and pustules",
"crampy abdominal pain",
"facial swelling",
"difficulty swallowing",
"sensation of throat swelling",
"abdominal pain",
"facial swelling",
"difficulty swallowing",
"mild, generalized flare of hereditary angioedema"
] | [
"tonsillectomy",
"C1 INH concentrate as prophylactic treatment",
"tonsillectomy",
"treated with stanozolol 4 mg po quid and clindamycin 150 mg po tid during the week before the procedure",
"Two hours prior to surgery",
"received 2300 plasma units of intravenous C1-inhibitor (Human) Vapor Heated, IMMUNO (I... | null | [
"C4 level of 8 mg/dL (normal 20-50 mg/dL)",
"C1 inhibitor (C1 INH) level of 4 mg/dL (normal 11-26 mg/dL)"
] | [
"Preoperative physical examination was normal",
"no evidence of angioedema",
"spite of prophylactic therapy with both anabolic steroids and C1 INH concentrate"
] |
hae:7892812 | Type II hereditary angioedema: presentation and follow-up of three cases. | [
"Three cases with a family history of type II hereditary angioedema (HAE) are presented, together with their progress following treatment with stanozolol. The development of patients with this drug was satisfactory in clinical terms, as it gave rise to virtually no side effects or angioedema episodes. Only patient ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three cases with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family history of type II hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em;... | null | null | null | [
"stanozolol"
] | null | [
"elevation of hepatic enzyme (SGOT, SGPT) levels in serum",
"C4 values",
"attained sporadic normalization",
"remained below normal",
"The activity of C1 inhibitor (C1-INH) remained below normal",
"HAE activity"
] | [
"no side effects or angioedema episodes"
] |
hae:17974399 | [Melkersson-Rosenthal syndrome]. | [
"Melkersson-Rosenthal's syndrome is characterized by recurrent or persistent oedema of the lips or the face; the fissured tongue, and intermittent paralysis of the facial nerve. Oligosymptomatic forms are more common than the triad. The syndrome is rarely encountered, it is aetiologycally obscure, the laboratory fi... | [
"<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's syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Melkersson-Rosenthal's syndrome",
"recurrent",
"hereditary angioedema"
] | null | [
"recurrent or persistent oedema of the lips or the face; the fissured tongue",
"intermittent paralysis of the facial nerve",
"Oligosymptomatic",
"mild neurological symptoms",
"two syndrome elements",
"oedema of the lips and the fissured tongue",
"clinical improvement"
] | [
"Glycocorticoid therapy with antihistaminics and anabolica"
] | null | null | [
"laboratory findings are not specific",
"Allergic genesis was ruled out",
"negative results of numerous laboratory and clinical tests"
] |
hae:8205906 | Hereditary angioedema presenting with adult respiratory distress syndrome. | [
"Adult respiratory distress syndrome (ARDS) could be related to upper airway obstruction. Mechanical obstruction and complement activation could lead to ARDS development. We describe a patient with hereditary angioedema, laryngeal edema, and ARDS."
] | [
"<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 Adult respiratory distress syndrome (ARDS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Adult respiratory distress syndrome (ARDS)",
"ARDS",
"hereditary angioedema",
"ARDS"
] | null | [
"upper airway obstruction",
"Mechanical obstruction",
"laryngeal edema"
] | null | null | [
"complement activation"
] | null |
hae:7971458 | [A case of hereditary angioedema]. | [
"The authors describe a case of hereditary angioedema in a female child of four years. Treatment with C1 human-immuno-inactivator. Good success of therapy."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors 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 hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"hereditary angioedema"
] | null | null | [
"Treatment with C1 human-immuno-inactivator"
] | null | null | null |
hae:8148282 | Protein S deficiency in lupus erythematosus secondary to hereditary angio-oedema. | [
"We report a child with lupus erythematosus secondary to type 2 hereditary angio-oedema (HAE). Reduced levels of free protein S were found. Total protein S, and C4 binding protein (C4bp) were normal, and there was no evidence of anticardiolipin antibodies or lupus anticoagulant. We postulate that reduced levels of ... | [
"<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 child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"lupus erythematosus",
"type 2 hereditary angio-oedema (HAE)"
] | null | null | null | null | [
"Reduced levels of free protein S were found",
"reduced levels of C4",
"C1 inhibitor deficiency",
"increased binding of protein S to C4bp",
"reduced levels of free protein S",
"functional deficiency of protein S."
] | [
"Total protein S, and C4 binding protein (C4bp) were normal",
"no evidence of anticardiolipin antibodies or lupus anticoagulant"
] |
hae:8403537 | A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema. | [
"A sporadic case of hereditary angioneurotic edema (HANE) is reported here. The patient was a 15-year-old girl who for 4 years had suffered recurrent episodes of urticaria-like erythema, followed by vomiting with abdominal pain. She was diagnosed as having Sjögren syndrome by results of sialography and serological ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A sporadic 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 hereditary angioneurotic edema (HANE)\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"hereditary angioneurotic edema (HANE)",
"Sjögren syndrome",
"HANE"
] | [
"One of the patient's C1-INH gene alleles was revealed to have at least a 17-kb-length deletion including exons 5-8"
] | [
"recurrent episodes of urticaria-like erythema",
"vomiting",
"abdominal pain",
"these episodes of urticarial erythema"
] | null | null | [
"the C1 inhibitor (C1-INH) activity in her plasma was very low"
] | [
"Diagnosis of acquired angioneurotic edema (AANE) was excluded",
"plasma had no inhibitory effect on the C1-INH activity of normal individuals",
"Neither her parents nor her healthy brother showed any abnormalities on Southern blot analysis"
] |
hae:8505498 | Hereditary angioneurotic edema with severe hypovolemic shock. | [
"Hereditary angioneurotic edema (HAE) is characterized by recurrent attacks of edema of the upper airways, face, and limbs, and/or abdominal pains sometimes mimicking surgical abdomen. Our patient, a 24-year-old woman, had undergone laparotomy on a previous attack, at which a large amount of serious peritoneal flui... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic edema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Hereditary angioneurotic edema (HAE)",
"HAE"
] | null | [
"recurrent attacks of edema of the upper airways, face, and limbs",
"abdominal pains",
"mimicking surgical abdomen",
"edema of the intestinal wall",
"severe abdominal pain",
"profound hypovolemic shock",
"shock",
"abdominal pain",
"hypotension",
"hypovolemic shock"
] | [
"laparotomy",
"replacement of great amounts of fluids in addition to fresh frozen plasma"
] | null | [
"hemoconcentration",
"leukocytosis"
] | [
"no evidence of bleeding"
] |
hae:8469537 | Quincke's disease: nonhereditary angioneurotic edema of the uvula. | [
"We report two cases of Quincke's disease, an isolated form of angioneurotic edema involving the uvula that is induced by several factors, including foods, drugs, and inhalants. Although Quincke's disease has prominent oral manifestations, it has only rarely been described in the dental literature. The rapid onset ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two 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 Quincke's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Quincke's disease",
"Quincke's disease",
"hereditary form of angioneurotic edema",
"nonhereditary, localized",
"Quincke's disease",
"hereditary angioneurotic edema",
"nonhereditary form"
] | [
"biochemical defect"
] | [
"isolated form of angioneurotic edema involving the uvula",
"foods",
"inhalants",
"prominent oral manifestations",
"respiratory compromise",
"nonerythematous swollen uvula",
"fullness in the throat",
"signs of airway obstruction"
] | null | null | null | null |
hae:8447672 | Familial cold urticaria. Investigation of a family and response to stanozolol. | [
"Familial cold urticaria is a rare cutaneous and systemic reaction to cold with autosomal dominant inheritance, distinctive clinical features, and unknown pathogenesis. Release of a chymotrypsinlike substance has been postulated. To date, no effective treatment has been reported.",
"Eight cases from a large famil... | [
"<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 cold urticaria\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Familial cold urticaria",
"hereditary angioedema"
] | [
"autosomal dominant inheritance"
] | [
"rare cutaneous and systemic reaction to cold",
"distinctive clinical features",
"very favorable response in their cold urticaria",
"biochemical observations",
"secondary epiphenomena"
] | [
"stanozolol",
"stanozolol"
] | null | [
"Release of a chymotrypsinlike substance",
"Correction of a deficiency of an inhibitory protein"
] | null |
hae:8438855 | Angioedema presenting as chronic gastrointestinal symptoms. | [
"Gastrointestinal complaints may be the presenting feature of patients with acquired or hereditary angioedema. We describe two patients with episodic nausea, abdominal pain, and cramping secondary to C1 inhibitor deficiency. In one patient, an acquired deficiency arose as a paraneoplastic syndrome with abdominal co... | [
"<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 Gastrointestinal complaints\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"acquired",
"angioedema",
"paraneoplastic syndrome",
"occult lymphoma"
] | [
"hereditary",
"hereditary"
] | [
"Gastrointestinal complaints",
"episodic nausea",
"abdominal pain",
"cramping",
"abdominal complaints",
"abdominal complaints",
"gastrointestinal angioedema",
"unexplained abdominal symptoms",
"intestinal pseudo-obstruction"
] | null | null | [
"C1 inhibitor deficiency",
"acquired deficiency",
"deficiency of C1 inhibitor",
"episodic unregulated complement activation",
"C1 inhibitor deficiency"
] | null |
hae:8506211 | IgA nephropathy in hereditary angioedema. | [
"Hereditary angioedema is an autosomal dominant disorder of the complement system in which there is a deficiency of the inhibitor of the activated first component of complement. We have previously reported on three generations of a family with classic hereditary angioedema. Three members of this family have now dev... | [
"<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",
"disorder of the complement system",
"IgA nephropathy",
"hereditary angioedema",
"immunoregulatory disorders",
"IgA nephropathy"
] | [
"autosomal dominant"
] | null | null | null | [
"deficiency of the inhibitor of the activated first component of complement"
] | null |
hae:8499768 | Hereditary angioedema: uncomplicated maxillofacial surgery using short-term C1 inhibitor replacement therapy. | [
"We report on the successful use of a pasteurized C1 inhibitor (C1-INH) concentrate during dental surgery of a patient affected by hereditary angioedema. The patient recovered fully without complications or side effects. Within 30 min, the first 1,000 U of C1-INH concentrate raised C1-INH concentration from 19 to 5... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on the successful \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n use of a pasteurized C1 inhibitor (C1-INH) concentrate during dental surgery\n ... | [
"hereditary angioedema"
] | null | null | [
"use of a pasteurized C1 inhibitor (C1-INH) concentrate during dental surgery",
"first 1,000 U of C1-INH concentrate raised C1-INH concentration from 19 to 55% and function from 40 to 90% of the normal mean",
"dental surgery",
"traumatic procedures",
"conjunction with C1-INH replacement therapy"
] | null | [
"further increase of the C1-INH concentration to 86% and a function of 106% relative to the normal mean",
"C1-INH concentration returned to pretreatment level",
"the function remained above this value",
"C1-INH deficiency"
] | [
"without complications or side effects",
"Serum liver enzyme values did not change",
"no anti-C1-INH alloantibodies were detected 10 months post-replacement therapy",
"without preliminary treatment"
] |
hae:8465077 | [Anesthesia in a case of hereditary angioneurotic edema]. | [
"The case of a 51 year old woman diagnosed with hereditary angioneurotic edema (HANE) requiring hospital admission on one occasion is presented. The patient was scheduled for abdominal hysterectomy of uterine myomas. Upon presentation to the authors, the patient was not under treatment and was asymptomatic. The pat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 51 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"hereditary angioneurotic edema (HANE)"
] | null | null | [
"hospital admission",
"abdominal hysterectomy of uterine myomas",
"given 1000 units of C1-INH two hours prior to surgery",
"operation",
"under peridural anesthesia",
"short term prophylaxis prior to surgery with C1-INH or fresh plasma and/or antifibrinolytic and hormonal agents",
"locoregional technique... | null | null | [
"not under treatment",
"asymptomatic",
"no complications"
] |
hae:1439959 | Hereditary angioedema associated with pancreatitis. | [
"A 44-year-old woman with C1q esterase inhibitor deficiency was seen in consultation for recurrent right upper quadrant abdominal discomfort, nausea, and vomiting. Each of these episodes was accompanied by concomitant peripheral edema. Initial diagnostic efforts were fruitless. In time, intermittent elevations in a... | [
"<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; ... | [
"relapsing pancreatitis",
"recurrent acute pancreatitis",
"hereditary angioedema"
] | null | [
"recurrent right upper quadrant abdominal discomfort",
"nausea",
"vomiting",
"peripheral edema",
"intermittent intrapancreatic edema",
"partial ductal obstruction"
] | null | null | [
"C1q esterase inhibitor deficiency",
"intermittent elevations in amylase and lipase developed",
"loss of inhibition on the kallikrein-kinin system"
] | [
"Initial diagnostic efforts were fruitless"
] |
hae:1439945 | Hereditary angioedema. | [
"Hereditary angioedema is a rare disease resulting from a lack of functional C1 esterase inhibitor (C1 INH). Several genetic defects can cause decreased production of the protein or the synthesis of a biologically inactive form. A similar, acquired condition is occasionally seen, associated with malignancies or 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",
"malignancies",
"autoimmune process"
] | [
"genetic defects"
] | [
"cutaneous, laryngeal, or gastrointestinal edema",
"trauma",
"symptom-provoking events"
] | [
"anabolic steroids or antifibrinolytics",
"plasma infusions, fluids, and pain control",
"C1 INH concentrate"
] | null | [
"lack of functional C1 esterase inhibitor (C1 INH)",
"decreased production of the protein or the synthesis of a biologically inactive form",
"low serum C1 INH function"
] | null |
hae:1342916 | Hereditary angioedema type II--a study of two families. | [
"Hereditary angioedema (HA) is caused by a quantitative or qualitative deficiency of C1 esterase inhibitor (C1 INH). We present a study of nine patients with HA belonging to two different families. The symptoms started before 10 years of age in most cases (78%). Facial edema (lips, eyes) and of the extremities (fee... | [
"<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 (HA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Hereditary angioedema (HA)",
"HA"
] | null | [
"Facial edema (lips, eyes) and of the extremities (feet, hands)",
"edema of the glottis",
"control of symptoms",
"functional activity was re-established"
] | [
"underwent a tracheostomy twice",
"use of a modified androgen (danazol)"
] | null | [
"quantitative or qualitative deficiency of C1 esterase inhibitor (C1 INH)",
"low levels of C4"
] | [
"The serum levels of C1 INH were normal",
"functional activity was not observed in any of them"
] |
hae:1421450 | Abdominal attack of hereditary angioedema associated with marked leucocytosis. A case report. | [
"Hereditary angioedema (HAE) attacks are not usually associated with an increase of peripheral blood leucocytes. In a 25-year-old woman suffering from HAE a marked leucocytosis (31,000/mm3) with polynucleosis was observed during a severe attack of the disease. Awareness of the underlying disease, physical examinati... | [
"<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) attacks\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Hereditary angioedema (HAE) attacks",
"HAE",
"HAE"
] | null | [
"severe attack of the disease",
"abdominal attack of HAE",
"involve the peritoneum as well as the intestinal mucosa",
"attack of abdominal pain"
] | [
"avoiding invasive procedures"
] | null | [
"increase of peripheral blood leucocytes",
"marked leucocytosis (31,000/mm3) with polynucleosis",
"leucocytosis of the severity",
"leucocytosis"
] | null |
hae:1595700 | Long-term follow-up of non-systemic lupus erythematosus glomerulonephritis in patients with hereditary angioedema: report of four cases. | [
"Hereditary angioedema (HAE) is characterized by a deficiency in C1 inhibitor protein (C1 INH) and by clinical symptoms of episodic swelling of subcutaneous or mucosal tissue. It has rarely been reported in association with non-systemic lupus erythematosus (SLE) glomerulonephritis (GN). A recent report of two cases... | [
"<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)",
"non-systemic lupus erythematosus (SLE) glomerulonephritis (GN)",
"HAE",
"non-SLE membranoproliferative glomerulonephritis (MPGN)",
"HAE and non-SLE GN",
"MPGN",
"segmental MPGN",
"HAE and non-SLE GN"
] | null | [
"episodic swelling of subcutaneous or mucosal tissue",
"chronic renal failure",
"vasculitic rash",
"clinical improvement",
"urinary abnormalities"
] | [
"prednisone and cyclophosphamide",
"treatment with prednisone"
] | null | [
"deficiency in C1 inhibitor protein (C1 INH)",
"macroscopic hematuria",
"azotemia",
"improvement in her hematuria"
] | [
"normal renal function",
"received no therapy",
"chronic renal failure"
] |
hae:1504426 | Hereditary angioedema: a case with ascites yet no symptoms in the family. | [
"An interesting case of hereditary angioedema in a 26-year-old female is reported, with a finding of transient effusion of fluid into the peritoneal cavity during the attacks. The patient suffered from recurrent abdominal pain for several years, but no family members had any similar symptoms. In spite of repeated h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An interesting 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 hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"transient effusion of fluid into the peritoneal cavity",
"recurrent abdominal pain for several years",
"acute and/or recurrent abdominal pain"
] | [
"repeated hospital admissions"
] | null | null | [
"no family members had any similar symptoms",
"useless invasive procedures"
] |
hae:1452538 | Hereditary angioedema in a family. | [
"Hereditary angioedema is an uncommon clinical condition. Life-long episodic brawny and non-itchy swelling of the extremities, face and trunk, with episodic abdominal pain and familial occurrence are the typical features. Oedema causing obstruction of airways may lead to suffocation and even death. The diagnosis ca... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | [
"familial occurrence"
] | [
"Life-long episodic brawny and non-itchy swelling of the extremities, face and trunk",
"episodic abdominal pain",
"Oedema causing obstruction of airways",
"suffocation",
"death"
] | [
"synthetic androgenic agents"
] | null | [
"low levels of C1 esterase inhibitor, C4 and C2"
] | null |
hae:1564970 | [Hereditary angioedema. Control and treatment in 7 cases]. | [
"Hereditary angioedema (HAE) is due to a deficit of the C1 inhibitor (C1 INH) of a dominant autosomic inheritance. Seven patients are presented from a family with HAE, four of whom with poor prognosis due to the frequency and site of the angioedema. Prophylaxis was obtained with long-term danazol since antifibrinol... | [
"<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)"
] | [
"of a dominant autosomic inheritance"
] | [
"angioedema"
] | [
"Prophylaxis",
"long-term danazol",
"concentrate of C1 INH",
"as short term prophylaxis prior to surgery",
"C1 INH",
"fresh plasma or antifibrinolytic drugs"
] | null | [
"deficit of the C1 inhibitor (C1 INH)"
] | [
"antifibrinolytic drugs are not efficient in the prevention of outbreaks of angioedema"
] |
hae:1611187 | A familial case of hereditary angioneurotic edema in Japan. | [
"A 53-year-old man was admitted with impairment of breathing following laryngeal edema. Serum levels of CH50 (22 U/ml), C4 (3 mg/dl), C1-INH protein (10.6 mg/dl) and C1-INH activity (LT 25%) were low. Complement study of the patient's family members revealed that he was one of 5 patients in 3 generations with hered... | [
"<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 53-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"HANE"
] | null | [
"impairment of breathing",
"laryngeal edema",
"eruption and hepatic dysfunction attributable to administration of the drugs appeared",
"these side effects improved"
] | [
"Administration of the androgen derivatives Danazol (600 mg/day) and Oxymetholone (30 mg/day)",
"treatment with Danazol at a low dose (100 mg/day)"
] | [
"Japan"
] | [
"Serum levels of CH50 (22 U/ml), C4 (3 mg/dl), C1-INH protein (10.6 mg/dl) and C1-INH activity (LT 25%) were low",
"effectively increased serum levels of C1-INH activity and C4"
] | [
"withdrawal of the drugs",
"no episodes of edema",
"the past 3 years"
] |
hae:1568052 | Hereditary angioedema complicated with chronic renal failure: report of sibling cases. | [
"Hereditary angioedema (HAE) is known as a deficiency state of C1 inhibitor (C1 INH), an important protease inhibitor protein involved in the complement system. As with other components of the classical pathway of the complement system, a state of its deficiency often causes clinical immunoregulatory disorders. A 4... | [
"<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)",
"chronic glomerulonephritis"
] | null | [
"clinical immunoregulatory disorders",
"chronic renal failure",
"chronic renal failure"
] | [
"regular hemodialysis"
] | null | [
"deficiency state of C1 inhibitor (C1 INH), an important protease inhibitor protein involved in the complement system",
"of the classical pathway of the complement system",
"of its deficiency"
] | null |
hae:1545513 | [Hereditary angioneurotic edema associated with DIC and treated effectively by nafamostat mesilate]. | [
"A 36-year-old woman with disseminated intravascular coagulation syndrome (DIC) was admitted to the Third Department of Internal Medicine of the National Defense Medical College Hospital. Even after she recovered from DIC, she had a low level of C1-inactivator. Her past history, family history and family study reve... | [
"<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 36-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"disseminated intravascular coagulation syndrome (DIC)",
"HANE associated with DIC",
"HANE attack"
] | null | [
"HANE attacks",
"subjective relief",
"serological data were improved"
] | [
"nafamostat mesilate, a strong inhibitor of activated first complement component",
"Nafamostat mesilate"
] | null | [
"low level of C1-inactivator"
] | [
"recovered from DIC"
] |
hae:1445091 | Hormonally exacerbated hereditary angioedema. | [
"Hereditary angioedema is a rare disorder which is associated with an inherited deficiency of the inhibitor of the activated first component of complement. Genetic transmission occurs in an autosomal dominant manner. Affected patients are heterozygotes, and their deficiency is incomplete, many of them having up to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hormonally exacerbated hereditary angioedema"
] | [
"inherited deficiency of the inhibitor of the activated first component of complement",
"Genetic transmission occurs in an autosomal dominant manner",
"heterozygotes"
] | [
"symptoms appeared to be related to the menstrual cycle",
"premenstrual exacerbations"
] | [
"taking of the oral contraceptive pill"
] | null | [
"deficiency is incomplete",
"having up to 20% of the normal amount of the inhibitor",
"C1 esterase inhibitor deficiency"
] | null |
hae:1791801 | [Hereditary angioedema. Description of a pediatric case]. | [
"Hereditary angioedema is a disease due to deficiency or functional anomaly of the serum inhibitor of C1-esterase, clinically characterised by the recurrence of oedematous episodes in the subcutis and mucosas; if not diagnoses in time, this condition is potentially fatal (up to 50% of cases for edema of the glottis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | null | [
"recurrence of oedematous episodes in the subcutis and mucosas",
"edema of the glottis"
] | null | null | [
"deficiency or functional anomaly of the serum inhibitor of C1-esterase"
] | null |
hae:1770424 | Angioedema as a complication in periodontal surgery: report of a case. | [
"Angioedema is a diffuse swelling of the subcutaneous or submucosal tissues that occurs in both hereditary and non-hereditary forms. It can be a temporarily disfiguring condition, but not usually a serious one unless the airway is compromised. In the majority of cases, no underlying cause can be identified. In this... | [
"<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",
"\"idiopathic\" angioedema",
"angioedema"
] | [
"hereditary",
"non-hereditary"
] | [
"diffuse swelling of the subcutaneous or submucosal tissues",
"temporarily disfiguring",
"emotional stress",
"pharmacologic side effects of ACE inhibitors"
] | [
"periodontal surgical procedure",
"long-term use of an angiotensin-converting enzyme [ACE] inhibitor for hypertension",
"ACE inhibitors",
"local anesthetic",
"periodontal surgical procedures"
] | null | [
"suppress the breakdown of circulating bradykinins",
"high plasma levels of bradykinins"
] | [
"airway is compromised",
"no underlying cause"
] |
hae:2049985 | [Hereditary angioedema type II with predominantly abdominal symptoms]. | [
"For two years a 19-year-old patient had been complaining of recurrent abdominal symptoms consisting of severe colicky pain, nausea, vomiting and diarrhoea. Occasionally he noticed concomitant subcutaneous swellings in the limbs. There were no swellings in the face or the region of the upper airway. The symptoms oc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">For two years 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-ra... | null | null | [
"recurrent abdominal symptoms",
"severe colicky pain",
"nausea",
"vomiting",
"diarrhoea",
"concomitant subcutaneous swellings in the limbs",
"spontaneously receding",
"hereditary angio-oedema"
] | [
"low-dosage treatment with Danazol (initially, for two months, 200 mg daily, then 200 mg five times per week)"
] | null | [
"its serum activity was reduced to 16% (normal range 80-125%)",
"type II C1-esterase inhibitor deficiency"
] | [
"no swellings in the face or the region of the upper airway",
"Serum concentration of C1-esterase inhibitor was normal (13 mg/dl)",
"symptom-free"
] |
hae:1924903 | [Hereditary angioedema. Review and presentation of 2 cases in a family]. | [
"The clinical records of two patients (mother and son) who had hereditary angioedema of type 1 since childhood are studied. The angioedema was present in each case after trauma, they both had history of chronic allergic rhinitis and the son had of spastic bronchitis. In each of these two patients the level of C4 an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical records of two patients (\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mother\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"hereditary angioedema of type 1"
] | null | [
"angioedema",
"trauma"
] | [
"steroids and antiallergic medicine"
] | null | [
"level of C4 and CH50 was low",
"C1 INH was absent"
] | [
"C3 was normal",
"level of C1 INH was normal"
] |
hae:1842037 | [Hereditary angioedema, a rare cause of recurrent abdominal pains. A report of 2 clinical cases and comments of a general nature]. | [
"Two clinical cases of recurrent abdominal pain are reported. These led to the unusual diagnosis of hereditary angioedema due to deficiency of C1 esterase inhibitor (C1-INH). The difficulties of identifying this genetic disease were caused by the variability of its clinical expression: the alteration of an autosoma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two clinical 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 recurrent abdominal pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"hereditary angioedema",
"hereditary angioedema"
] | [
"genetic disease",
"alteration of an autosomal dominant gene"
] | [
"recurrent abdominal pain",
"angioedema attacks that may strike the cutaneous, gastroenteric and respiratory apparatus with differing intensity",
"extraintestinal symptoms of very variable intensity"
] | null | null | [
"deficiency of C1 esterase inhibitor (C1-INH)",
"Measurement of C4 and C1-INH",
"functional defect of C1 esterase inhibitor",
"quantitative defect in the same inhibitor"
] | null |
hae:2072364 | Hereditary angioneurotic edema in the puerperium. A case report. | [
"Hereditary angioneurotic edema is a potentially fatal condition. Below is described the first reported case of the initial presentation of the condition precipitated by vaginal delivery."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Hereditary angioneurotic edema"
] | null | null | [
"vaginal delivery"
] | null | null | null |
hae:2035296 | Anesthesia for athletes using performance-enhancing drugs. | [
"Anabolic-androgenic steroids are used in the treatment of numerous medical conditions, including Fanconi's anemia, hypogonadism, hereditary angioedema, hypopituitarism and impotence. However, because of their potent anabolic properties, athletes began to use them to enhance body strength, size and endurance. Despi... | [
"<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 Anabolic-androgenic steroids\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Fanconi's anemia",
"hypogonadism",
"hereditary angioedema",
"Wilm's tumor",
"hepatocellular carcinoma"
] | null | [
"hypopituitarism",
"impotence",
"potent anabolic properties",
"enhance body strength, size",
"endurance",
"dangerous side effects",
"stroke",
"myocardial infarction",
"physiologic changes"
] | [
"Anabolic-androgenic steroids",
"anabolic steroids",
"anesthesia administration",
"anabolic steroid ingestion",
"administration of anesthesia"
] | null | null | null |
hae:2060967 | [Angioneurotic edema in hereditary alpha-1-antitrypsin deficiency]. | [
"A young man with angioedema presented with normal concentration and function of C1-esterase inhibitor, but with a hereditary deficiency of alpha-1 antitrypsin (Pi-ZZ type). The pathogenetic relevance of this defect is discussed with respect to the partial deficiency of the complement component C4 (C4BQ0), which wa... | [
"<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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"angioedema"
] | [
"hereditary deficiency of alpha-1 antitrypsin (Pi-ZZ type)"
] | null | null | null | [
"partial deficiency of the complement component C4 (C4BQ0)"
] | [
"normal concentration and function of C1-esterase inhibitor"
] |
hae:2149524 | Potentially fatal hereditary angioedema: a review and case report. | [
"Hereditary angioedema is a disease based upon a biochemical deficiency which may result in sudden and unexpected death principally from respiratory distress due to swelling of the pharyngeal tissues. Dental treatment is not an uncommon initiator of such edema. To perform dental care safely, it is necessary to unde... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | null | [
"sudden and unexpected death",
"respiratory distress",
"swelling of the pharyngeal tissues",
"edema"
] | [
"Dental treatment",
"dental care",
"dental treatment"
] | null | [
"biochemical deficiency"
] | null |
hae:2226156 | [Paroxysmal non-hereditary angioedema]. | [
"Recurrent hypovolaemic shock had been occurring over the last five and four years, respectively, in a 53-year-old woman and a 46-year-old man who had previously been healthy. The attacks were characterized by a tension feeling and sometimes oedema in the limbs, as well as increased thirst. Within a few hours sweat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Recurrent hypovolaemic shock\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"capillary leak syndrome"
] | null | [
"Recurrent hypovolaemic shock",
"tension feeling",
"oedema in the limbs",
"increased thirst",
"sweating",
"tachycardia",
"orthostatic complaints",
"shock",
"systolic blood pressure would fall to 70 mm Hg",
"pulse rate rise to 150/min",
"abnormal clinical and biochemical changes quickly disappear... | [
"administration of plasma expanders",
"ketotifen and tebonin (gingko biloba extract) administration",
"no further hospitalization for nine months"
] | null | [
"Haematocrit rose to 61 and 71.5%",
"haemoglobin concentration to 20.7 and 21.3 g/dl, respectively"
] | [
"blood pressure was not measurable by sphygmomanometer",
"renal, pulmonary and cerebral vessels apparently are unaffected"
] |
hae:2284042 | [Clinical contribution to the problem of correlations between hereditary angioneurotic edema and pregnancy]. | [
"Hereditary angioneurotic edema (HAE) is an autosomal dominant disease caused by a deficiency of a complement regulatory protein, the C1INH.HAE is clinically characterized by recurrent, self-limited attacks of edema involving the extremities, face, upper respiratory tract or gastrointestinal tract. Pregnancy in a w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic edema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Hereditary angioneurotic edema (HAE)",
"Pregnancy",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"autosomal dominant disease"
] | [
"recurrent, self-limited attacks of edema involving the extremities, face, upper respiratory tract or gastrointestinal tract",
"local edema",
"death",
"postpartum",
"postpartum"
] | [
"prophylactic treatment with danazole or tranexamic acid",
"administration of purified C1INH prophylactically before the delivery",
"given 1000 units of purified C1INH concentrate both four hours before the delivery and 24 hours after it"
] | null | null | [
"despite the local trauma",
"not usually associated with complications",
"neither alters the evolution of pregnancy nor does foetus harm",
"no attack during the whole gestation"
] |
hae:2400726 | Discoid lupus erythematosus associated with hereditary angioneurotic oedema. | [
"A female patient developed discoid lupus erythematosus 6 years after the onset of hereditary angioneurotic oedema. Treatment with danazol for 18 months cleared both conditions and was well tolerated."
] | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"discoid lupus erythematosus"
] | null | [
"hereditary angioneurotic oedema"
] | [
"Treatment with danazol for 18 months"
] | null | null | null |
hae:2365061 | Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma. | [
"A new reactive-centre P1 residue mutation (444Arg----Ser), has been identified in a dysfunctional C1 inhibitor protein, C1 inhibitor(Ba), contained in a type II hereditary angioedema plasma. This substitution is compatible with a point mutation of the 444Arg codon (CGC----AGC), and represents the first non-histidi... | [
"<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 new reactive-centre P1 residue mutation (444Arg----Ser)\n <span style=\"font-size: 0.8em; font-weight: b... | [
"type II hereditary angioedema plasma"
] | [
"new reactive-centre P1 residue mutation (444Arg----Ser)",
"substitution is compatible with a point mutation of the 444Arg codon (CGC----AGC)",
"non-histidine, non-cysteine P1 residue mutant"
] | null | null | null | [
"dysfunctional C1 inhibitor protein, C1 inhibitor(Ba)",
"C1 inhibitor"
] | null |
hae:2115661 | Angioedema related to angiotensin-converting enzyme inhibitors. | [
"Angioedema is a disorder characterized by well-demarcated nonpitting edema involving the tongue, floor of the mouth, larynx, lips, and face. This condition can progress to upper airway obstruction and death. Angiotensin-converting enzyme inhibitors (ACEIs), relatively new antihypertensive agents, act by blocking t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Angioedema",
"nonhereditary form of angioedema",
"angioedema"
] | null | [
"well-demarcated nonpitting edema involving the tongue, floor of the mouth, larynx, lips, and face",
"upper airway obstruction",
"death",
"edema",
"nonhereditary angioedema",
"shortness of breath",
"dysphagia",
"tongue and floor of the mouth edema"
] | [
"Angiotensin-converting enzyme inhibitors (ACEIs)",
"antihypertensive agents",
"ACEIs",
"ACEIs",
"enalapril, captopril, lisinopril",
"saralasin acetate",
"combination of ACEI with diuretics (for example, Capozide)",
"ingestion of angiotensin-converting enzyme inhibitors",
"initial dose of an ACEI",
... | null | [
"blocking the formation of angiotensin II",
"potent vasoconstrictor and stimulator of aldosterone formation",
"retard the breakdown of bradykinin, a potent vasodilator"
] | [
"Assays of C1 esterase inhibitor levels and C4 were normal",
"hereditary forms of angioedema"
] |
hae:2100542 | [Treatment of hereditary angioedema]. | [
"Hereditary angioedema is a rare familial disease caused by the defect of complement C1esterase inhibitor (C1-INH). It is characterized by recurrent acute edema of the extremities, the face, the respiratory tract and the gastrointestinal tract. Acute laryngeal edema usually produces laryngeal obstruction. Two cases... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | [
"rare familial disease"
] | [
"recurrent acute edema of the extremities, the face, the respiratory tract and the gastrointestinal tract",
"Acute laryngeal edema",
"laryngeal obstruction",
"recurrent acute laryngeal edema",
"laryngeal edema"
] | [
"Tracheotomy",
"danazol"
] | null | [
"defect of complement C1esterase inhibitor (C1-INH)",
"remarkable decrease of C1-INH and C4"
] | null |
hae:2371584 | Hereditary angioedema: diagnosis and management. | [
"Hereditary angioedema is a rare autosomal dominant disorder due to the deficiency of functionally active C1-inhibitor. It is characterised by recurrent episodes of subcutaneous and mucosal edema. We report a case of hereditary angioedema presenting with the classic features of recurrent swelling of the extremities... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema"
] | [
"rare autosomal dominant disorder"
] | [
"recurrent episodes of subcutaneous and mucosal edema",
"recurrent swelling of the extremities",
"abdominal pain",
"laryngeal edema"
] | [
"danazol"
] | null | [
"deficiency of functionally active C1-inhibitor",
"C4 was low"
] | [
"Serum complement C3 level was normal",
"no further attacks of angioedema"
] |
hae:2108593 | Hereditary angioedema: therapeutic effect of danazol on C4 and C1 esterase inhibitors. | [
"Hereditary angioedema (HAE) is an inherited deficiency of C1 esterase inhibitor (C1 inh). The two types of genetic C1 inh deficiency are type I, which is quantitative, and type II, which is functional. For the purpose of the present study, four HAE patients were selected. None of them had received any androgenic t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"type I",
"type II",
"HAE",
"type I",
"type II"
] | [
"inherited",
"genetic C1 inh deficiency"
] | null | [
"danazol, 400 mg/day for 14 days",
"danazol"
] | null | [
"deficiency of C1 esterase inhibitor (C1 inh)",
"complement system",
"monitoring C4, hemolytic complement 50% (CH50), circulating immune complexes (CIC), and antigenic and functional C1 inh",
"level of complement factors",
"statistically significant increase in C4 and CH50 and the disappearance of CIC",
"... | [
"None",
"had received any androgenic therapy"
] |
hae:2298129 | [Long-term danazol therapy for hereditary angioedema]. | [
"Three patients with hereditary angio-oedema, two men of 19 and 35 years and a woman of 69 years, have been treated for 10 years with danazol, an androgen preparation with diminished androgenic effects. The 19-year-old man started taking it at the age of nine years and continued throughout puberty. Maintenance ther... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three 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 angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"hereditary angio-oedema"
] | null | [
"diminished androgenic effects",
"of attacks from one a week to roughly six a year",
"three severe attacks a week",
"attacks every four weeks after the menopause",
"complete relief",
"Endocrine, metabolic and toxic side-effects"
] | [
"danazol, an androgen preparation",
"taking it",
"Maintenance therapy with 200 mg twice a week, together with occasional booster doses of 200 mg daily",
"dose of 200 mg four or five times a week",
"dose of 200 mg six times weekly"
] | null | [
"C1-Esterase inhibitor--originally depressed to around 30% of normal",
"--rose to about 50%"
] | [
"Sexual maturation was entirely normal",
"symptom-free"
] |
hae:2340921 | Acquired C1 inhibitor deficiency: postmortem diagnosis. | [
"Acquired C1 esterase inhibitor deficiency is a clinical syndrome closely resembling hereditary angioedema in which most patients have an associated malignancy of B cell lineage. Sera from 33 patients with B cell neoplasms were assayed for C1 esterase inhibitor level by rocket immunoelectrophoresis. The clinical su... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acquired C1 esterase inhibitor deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"hereditary angioedema",
"malignancy of B cell lineage",
"B cell neoplasms"
] | null | [
"autoimmune reaction involving tumor cell rejections"
] | null | null | [
"Acquired C1 esterase inhibitor deficiency",
"assayed for C1 esterase inhibitor level",
"acquired C1 esterase inhibitor deficiency",
"low C1 esterase inhibitor, low C4)"
] | null |
hae:2179394 | [Hereditary angioneurotic edema and pregnancy]. | [
"Hereditary angioneurotic oedema (HANE) is an autosomal dominant disorder, relatively uncommon, in which patients experience recurrent bouts of oedema of the extremities, face and larynx. Attacks of HANE, sometimes fatal when involving the larynx may, among other causes, be triggered by the anesthetist's manipulati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic oedema (HANE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Hereditary angioneurotic oedema (HANE)",
"HANE",
"pregnancy",
"HANE",
"pregnancy"
] | [
"autosomal dominant disorder"
] | [
"recurrent bouts of oedema of the extremities, face and larynx",
"Attacks of HANE",
"fatal when involving the larynx",
"laryngeal oedema",
"perineal oedema"
] | [
"manipulation of the upper airway (tracheal intubation)",
"general anesthesia with tracheal intubation",
"caesarean section or a forceps delivery",
"delivery",
"vaginal delivery",
"lumbar epidural anesthesia"
] | null | null | [
"No laryngeal or perineal attack was noted"
] |
hae:2080605 | [A combination of chronic kidney failure with hereditary angioedema]. | [
"A case of a woman with a hereditary angioedema in combination with chronic renal failure is presented. The chronic renal failure is a late consequence of complications which had occurred in the course of a difficult parturition. The difficult parturition was probably the result of an expressed edema of the vaginal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"hereditary angioedema"
] | null | [
"chronic renal failure",
"chronic renal failure",
"difficult parturition",
"difficult parturition",
"expressed edema of the vaginal wall"
] | null | null | null | null |
hae:1688910 | Immunoblotting of plasma in a pregnant patient with hereditary angioedema. | [
"Hereditary angioedema (HAE), an autosomal disorder caused by a deficiency of C1 inhibitor, is characterized by attacks of localized swelling, laryngeal edema, or abdominal pain. Plasma samples from one pregnant patient were studied serially by functional and quantitative immunochemical assays as well as immunoblot... | [
"<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)",
"abnormal pregnancies",
"pregnancy",
"hereditary angioedema"
] | [
"autosomal disorder"
] | [
"localized swelling",
"laryngeal edema",
"abdominal pain",
"clinical attacks of angioedema"
] | [
"pregnant",
"delivery of the infant",
"delivery"
] | null | [
"deficiency of C1 inhibitor",
"HMWK from plasma",
"mostly an intact protein of 120 kd",
"immunoblot results of normal plasma HMWK",
"all of her plasma HMWK was shown to be cleaved into the 45 kd light chain form",
"the 120 kd form of intact plasma HMWK returned to her plasma",
"plasma HMWK was an intact... | null |
hae:2687589 | Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes. | [
"Patients with angioedema are often referred to an allergist to rule out an allergic cause. In most of these cases, no allergic cause is identified, and the cases are labeled \"idiopathic.\" Occasionally, a deficiency of the inhibitor of the first component of complement (C1INH) is discovered, which may be either h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"idiopathic",
"benign or malignant B-cell lymphoproliferative disorders",
"B-cell lymphoproliferative disorder"
] | [
"hereditary"
] | [
"angioedema",
"angioedema",
"benign course",
"angioedema",
"stopped the attacks of angioedema"
] | [
"therapy with androgens",
"androgen therapy"
] | null | [
"deficiency of the inhibitor of the first component of complement (C1INH)",
"acquired deficiency of C1INH",
"Measurement of the C1q subunit",
"acquired deficiencies of C1INH",
"it is normal",
"decreased",
"acquired deficiency of C1INH",
"acquired C1INH deficiency",
"anti-C1INH autoantibodies",
"ac... | [
"rule out an allergic cause",
"no allergic cause is identified",
"no evidence of an underlying disease",
"variable responses to therapy",
"no evidence of an underlying disease 11 years after the onset of angioedema"
] |
hae:2575278 | [Hereditary angioedema due to C1-esterase inhibitor deficiency]. | [
"The paper presents a case of family oedema by shortage of C1-esterase inhibitor, characterized by appearance at an early age (8 months), participation in some attacks of nasal mucous membrane, with nasal obstruction and sinusal manifestations and also the abnormally long period, up to 9 days, of some localized oed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The paper presents 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 family oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | null | null | [
"family oedema",
"participation in some attacks of nasal mucous membrane, with nasal obstruction",
"sinusal manifestations",
"abnormally long period, up to 9 days, of some localized oedemas",
"crises"
] | null | null | [
"shortage of C1-esterase inhibitor"
] | [
"absent during pregnancy"
] |
hae:2585784 | [A case of hereditary angioneurotic edema associated with systemic lupus erythematosus]. | [
"A 33-year-old woman noticed recurrent and sudden attacks of subcutaneous swelling of the extremities and face since the age of 4 years. Sometimes the attacks involved colicky abdominal pain. Her mother and younger sister had episodes of recurrent swelling of the extremities as well. Complement studies revealed low... | [
"<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 33-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioneurotic edema",
"hereditary angioneurotic edema associated with systemic lupus erythematosus"
] | null | [
"recurrent and sudden attacks of subcutaneous swelling of the extremities and face",
"colicky abdominal pain",
"butterfly rash",
"facial lesion"
] | null | null | [
"low CH50, C1q, C4, and C1 inhibitor levels",
"normal C3 and C5 levels",
"lymphopenia",
"positive ANF"
] | null |
hae:2772500 | [Hereditary angioedema. Effect of danazol on C4 and functional C1INH]. | [
"Hereditary angioedema (HAE) is an inherited deficiency of the inhibitor of C1 esterase (C1 inh). Two types of genetic C1 inh deficiency have been described, type I: quantitative, and type II: functional. For the purpose of the present study, 4 out of 51 HAE patients were selected. None of them had received any pre... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"type I:",
"type II:",
"HAE",
"type I",
"type II"
] | [
"inherited",
"genetic C1 inh deficiency"
] | null | [
"400 mg/day of danazol over 14 days",
"Danazol"
] | null | [
"deficiency of the inhibitor of C1 esterase (C1 inh)",
"complement system",
"monitoring C4, Hemolytic complement 50% (CH50), Circulating Immune Complexes (CIC), and antigenic and functional C1 INH",
"level of the complement factors",
"statistically significant increase of C4 and CH50 and the disappearance o... | [
"None",
"had received any previous androgenic therapy"
] |
hae:2736814 | Glomerulonephritis and hereditary angioedema: report of 2 cases. | [
"Hereditary deficiency of C1 esterase inhibitor (C1 INH) responsible for hereditary angioedema (HAE) is the most common hereditary complement deficiency. HAE has occasionally been reported in association with lupus erythematosus and with glomerulonephritis (GN). We report 2 cases of GN-associated C1 INH deficiency.... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"hereditary angioedema (HAE)",
"HAE",
"lupus erythematosus",
"glomerulonephritis (GN)",
"GN-associated C1 INH deficiency",
"type I membranoproliferative GN",
"GN",
"HAE",
"immune complex (IC) disease"
] | [
"Hereditary",
"hereditary",
"genetic deficiency of complement components"
] | [
"Renal manifestations",
"Chronic renal failure"
] | [
"recently received a kidney transplant"
] | null | [
"deficiency of C1 esterase inhibitor (C1 INH)",
"complement deficiency",
"elimination of IC"
] | null |
hae:2814292 | Hereditary angioedema due to deficit of C1 esterase inhibitor. | [
"A case of familial angioedema due to deficit of C1 esterase inhibitor is presented. The case had the following peculiarities: onset at a very early age (8 months); involvement, in some attacks, of the nasal mucosa with nasal obstruction and sinusitis manifestations; unusually long duration (as long as 9 days) of s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 familial angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"familial angioedema"
] | null | [
"involvement,",
", of the nasal mucosa with nasal obstruction",
"sinusitis manifestations",
"unusually long duration (as long as 9 days) of some of the localized edema"
] | null | null | [
"deficit of C1 esterase inhibitor"
] | [
"absence of attacks during pregnancy"
] |
hae:2926086 | Long-term prophylaxis with C1-inhibitor (C1 INH) concentrate in patients with recurrent angioedema caused by hereditary and acquired C1-inhibitor deficiency. | [
"A case of hereditary angioedema (HAE) type I (inherited C1-inhibitor [C1 INH] deficiency) and a case of late-onset acquired C1 INH with angioedema is described. In both patients, long-term prophylaxis with C1 INH had become necessary because treatment with danazol and epsilon-aminocaproic acid was not effective or... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 hereditary angioedema (HAE) type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"hereditary angioedema (HAE) type I",
")",
"late-onset acquired C1 INH with angioedema",
"HAE",
"acquired angioedema"
] | null | [
"free or nearly free from their episodes of cutaneous and internal edema",
"the swellings increasingly reappeared after 10 months"
] | [
"long-term prophylaxis with C1 INH",
"received a pasteurized concentrate of C1 INH continuously for a period of 1 year in a dosage",
"administered 500 units of C1 INH intravenously every 4 or 5 days",
"required 1000 units of C1 INH every 5 days",
"long-term prophylaxis"
] | null | [
"inherited C1-inhibitor [C1 INH] deficiency",
"The low plasma levels of C1 INH, C4, and C2, rose",
"acquired C1 INH deficiency"
] | [
"treatment with danazol and epsilon-aminocaproic acid was not effective or not tolerated",
"free of symptoms",
"although the patient's antibody titer did not rise during treatment",
"No side effects were recorded during therapy",
"HIV and hepatitis B antibody negative"
] |
hae:2650956 | [Computed tomography findings in hereditary angioneurotic edema]. | [
"The authors describe the computer tomographic findings in a patient with proven hereditary angioneurotic edema of the gastrointestinal tract with emphasis on differential diagnoses."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors describe the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n computer tomographic findings\n <span style=\"font-size: 0.8em; font-weight: bold... | null | null | [
"hereditary angioneurotic edema of the gastrointestinal tract"
] | null | null | null | null |
hae:2536404 | Autoantibody facilitated cleavage of C1-inhibitor in autoimmune angioedema. | [
"C1-inhibitor (C1-Inh) is an important inhibitor of the inflammatory response and deficiency of this inhibitor, which may be hereditary or acquired, is associated with recurrent episodes of edema. Recently, an autoimmune form of angioedema has been described that is associated with functional deficiency of C1-Inh a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n C1-inhibitor (C1-Inh)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"autoimmune form of angioedema",
"autoimmune angioedema",
"autoimmune disease"
] | [
"hereditary"
] | [
"recurrent episodes of edema"
] | null | null | [
"C1-inhibitor (C1-Inh)",
"inhibitor of the inflammatory response",
"deficiency of this inhibitor",
"functional deficiency of C1-Inh",
"autoantibody that impedes C1-Inh function",
"isolation of C1-Inh from the monocytes and plasma",
"monocytes secrete structurally and functionally normal C1-Inh",
"prot... | null |
hae:2799695 | [A case of hereditary angioneurotic edema provoked by functional insufficiency of C1-inactivator]. | [
"The hemolytic activity of complement, the concentration of C1-inactivator, of C1q and C4 components of complement as well as the activity of contact-activated kallikrein and the functional activity of C1-inactivator were studied in the plasma of a female patient with hereditary angioneurotic edema (HAE), of her mo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hemolytic activity of complement, the concentration of C1-inactivator, of C1q and C4 components of comple... | [
"hereditary angioneurotic edema (HAE)",
"HAE",
"HAE",
"HAE"
] | null | null | null | null | [
"hemolytic activity of complement, the concentration of C1-inactivator, of C1q and C4 components of complement",
"activity of contact-activated kallikrein and the functional activity of C1-inactivator",
"hemolytic activity of complement, the concentration of C1-inactivator and C1q in the blood plasma",
"the c... | [
"turned out unchanged"
] |
hae:2620753 | Hereditary angioedema associated with subacute cutaneous lupus erythematosus. | [
"The increased occurrence of various autoimmune diseases has recently been reported in patients with hereditary angioedema (HAE). This is especially the case in different forms of lupus erythematosus, but also other autoimmune diseases. We report a 24-year-old female patient who 10 years ago developed the clinical ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The increased occurrence of various \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autoimmune diseases\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"autoimmune diseases",
"hereditary angioedema (HAE)",
"lupus erythematosus",
"autoimmune diseases",
"HAE",
"subacute cutaneous lupus erythematosus"
] | null | [
"clinical symptoms"
] | null | null | null | [
"no clear insight into"
] |
hae:2533708 | Hereditary angioedema: report of case. | [
"Hereditary angioedema (HAE) is a life-threatening disorder triggered by trauma or stress, which causes various organ systems to become edematous. Most mortality is observed secondary to laryngeal edema, caused by dental manipulation. This disorder requires special medical management before dental treatment. Some d... | [
"<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)",
"life-threatening disorder",
"HAE"
] | null | [
"trauma",
"stress",
"various organ systems to become edematous",
"laryngeal edema"
] | [
"dental manipulation",
"special medical management",
"dental treatment"
] | null | null | null |
hae:3203091 | Acquired angioedema. | [
"An unusual case of angioedema is presented. The initial presentation occurred at 84 years-of-age without a family history of this condition. Further investigation revealed an underlying lymphoproliferative disorder which was associated with an acquired deficiency of the complement component C1 esterase inhibitor. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An unusual 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 angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"angioedema",
"lymphoproliferative disorder"
] | null | null | null | null | [
"acquired deficiency of the complement component C1 esterase inhibitor"
] | [
"without a family history of this condition"
] |
hae:3052191 | Hereditary angioedema. | [
"Although the condition is rare, patients with hereditary angioedema often present because of abdominal pain or airway compromise. A 27-year-old woman presented to the emergency department in acute abdominal distress. Identification of the disease in this patient allowed for proper management and avoidance of invas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although the condition is rare, 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\n <span style=\"font-size: 0.8em; font... | [
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"abdominal pain",
"airway compromise",
"acute abdominal distress"
] | [
"avoidance of invasive procedures"
] | null | null | null |
hae:3405564 | Hereditary angioedema and immunoglobulin A deficiency in pregnancy. | [
"Hereditary angioedema is a rare immunologic disorder, and immunoglobulin A deficiency is the most common isolated immunodeficiency. These rarely coexisting conditions may affect pregnancy. We report a gravida with the combination who developed severe acute laryngeal edema."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"rare immunologic disorder",
"isolated immunodeficiency",
"pregnancy"
] | null | [
"severe acute laryngeal edema"
] | null | null | [
"immunoglobulin A deficiency"
] | null |
hae:3136186 | Hereditary angioedema. Undersuspected, underdiagnosed. | [
"Although hereditary angioedema accounts for only a small fraction of all angioedema, it is relatively common among inherited deficiencies of plasma proteins. The occurrences of upper respiratory obstruction, of attacks following trauma, and of episodes of abdominal pain are clues to the diagnosis, and the absence ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although \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... | [
"hereditary angioedema",
"angioedema"
] | [
"inherited deficiencies of plasma proteins",
"genetic variant form"
] | [
"upper respiratory obstruction",
"of attacks following trauma",
"episodes of abdominal pain",
"life-threatening complications",
"upper airway obstruction",
"prevent complications associated with trauma",
"disability",
"frequent attacks",
"suppression or elimination of all symptoms"
] | [
"needless abdominal surgery",
"short-term prophylactic measures",
"chronic treatment with impeded androgens"
] | null | [
"Measurement of C4 concentration",
"Normal values",
"subnormal values",
"measurement of C1 INH"
] | [
"absence of a family history is no reassurance against"
] |
hae:3041877 | Hereditary angioedema: clinical and biochemical heterogeneity. | [
"Hereditary angioedema is a well defined entity for which we now have effective therapy. It is a condition however that can have different clinical presentations which require individualized therapeutic approaches. The recent advances into the molecular biology of this condition should provide further insights for ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | null | null | null | null | null | null |
hae:3397981 | Rheumatoid arthritis and hereditary angioedema. | [
"We describe a case in which rheumatoid arthritis (RA) developed in a patient with hereditary angioedema. Hereditary angioedema, one of the inherited complement deficiencies, has been reported in association with a number of autoimmune disorders, but there has been only 1 report of an association between RA and her... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a case in which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rheumatoid arthritis (RA)\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"rheumatoid arthritis (RA)",
"hereditary angioedema",
"Hereditary angioedema",
"autoimmune disorders",
"RA",
"hereditary angioedema"
] | [
"inherited complement deficiencies"
] | null | null | null | null | null |
hae:3234582 | Anti-Ro-positive lupus and hereditary angioneurotic edema. A 7-year follow-up with worsening of lupus under danazol treatment. | [
"A 24-year-old woman, having familial hereditary angioneurotic edema (HAE) treated with danazol, developed an anti-Ro-positive lupus featured by a mild erythematous eruption that seemed initially to decrease and then worsened under danazol, and dramatically improved after danazol was withdrawn. The relationship bet... | [
"<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 24-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"lupus",
"HAE",
"autoimmune diseases"
] | [
"immunogenetic background"
] | [
"mild erythematous eruption that seemed initially to decrease and then worsened",
"dramatically improved",
"hormonal sensitivity"
] | [
"danazol",
"danazol",
"danazol was withdrawn",
"danazol"
] | null | [
"anti-Ro-positive lupus"
] | null |
hae:3480003 | Intravenous tranexamic acid in the management of hereditary angio-oedema. | [
"The pathogenesis and management of hereditary angio-oedema is discussed. The use of intravenous tranexamic acid to provide short term prophylactic cover for patients with hereditary angio-oedema undergoing oral surgery is presented."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The pathogenesis and management of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angio-oedema\n <span style=\"font-size: 0.8em; font-weight: ... | [
"hereditary angio-oedema",
"hereditary angio-oedema"
] | null | null | [
"intravenous tranexamic acid to provide short term prophylactic cover",
"oral surgery"
] | null | null | null |
hae:3324342 | [Abdominal sonography in hereditary angioneurotic edema. A contribution to the early diagnosis of a disease of interdisciplinary significance]. | [
"Hereditary angioneurotic oedema is a rare complement-related disorder (C1-esterase-inhibitor deficiency) characterised by recurrent episodic swelling of the limbs, face, gastrointestinal tract, or airways. The mortality rate of the unrecognised disorder is 30 per cent, mainly due to airway obstruction. Two female ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Hereditary angioneurotic oedema",
"rare complement-related disorder"
] | null | [
"recurrent episodic swelling of the limbs, face, gastrointestinal tract, or airways",
"airway obstruction",
"acute abdominal pain",
"diffuse oedematous but compressible gut wall with reduced bowel motility",
"distended bowel loops with intraluminal fluid accumulation",
"free fluid in the peritoneal cavity... | null | null | [
"C1-esterase-inhibitor deficiency"
] | [
"normal routine laboratory findings"
] |
hae:3653633 | Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members. | [
"This paper describes a previously unreported finding of abdominal pain as the only lifelong manifestation of hereditary angioedema in multiple family members. This diagnosis was obscured by the absence of cutaneous, oropharyngeal, and respiratory involvement. Barium studies performed during painful attacks showed ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This paper describes a previously unreported finding 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 abdominal pain\n <span style=\"font-size: 0.8em; f... | [
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"abdominal pain",
"painful attacks",
"transient intestinal wall edema"
] | [
"invasive procedures",
"prophylactic therapy"
] | null | [
"abnormalities in the C4 level and C1 esterase inhibitor activity"
] | [
"absence of cutaneous, oropharyngeal, and respiratory involvement"
] |
hae:3445878 | Hereditary angioedema: a study of three families. | [
"Familial angioedema is an autosomal dominant hereditary disease whose pathogenesis is attributed to a C1 inhibitor (C1 INH) deficit. Two genetic forms have been recognized related to the C1 inhibitor deficiency or its dysfunction. Antifibrinolytics as well as androgenic derivatives have proved to be effective in 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 Familial angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Familial angioedema"
] | [
"autosomal dominant hereditary disease",
"genetic mutation"
] | [
"symptoms related with this deficit",
"control of symptoms"
] | [
"Antifibrinolytics",
"androgenic derivatives",
"Stanozolol"
] | null | [
"C1 inhibitor (C1 INH) deficit",
"C1 inhibitor deficiency",
"its dysfunction",
"C1 inh. deficit",
"rise of C1 inh. levels was significative",
"normalization of the C1 inh. levels",
"normalization of these levels"
] | [
"no differences between the C1 inh. levels",
"without clinical manifestations",
"lack of connection between the clinical improvement"
] |
hae:3669559 | Hereditary angioedema and aortitis. | [
"A 28-year-old male with hereditary angioedema died of an extensive stroke. Autopsy revealed cicatricial aortitis with narrowing of the coronary ostia, myocardial infarctions, and a left ventricular mural thrombus. There was neither acute inflammation of the aorta nor systemic vasculitis. A possible association of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 28-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioedema",
"association of the aortitis",
"hereditary angioedema"
] | null | [
"died",
"extensive stroke",
"cicatricial aortitis with narrowing of the coronary ostia",
"myocardial infarctions",
"left ventricular mural thrombus"
] | null | null | null | [
"neither acute inflammation of the aorta nor systemic vasculitis"
] |
hae:3494945 | Autoantibody-mediated acquired deficiency of C1 inhibitor. | [
"During the past 25 years, three forms of deficiency of the inhibitor of the first component of complement (C1 inhibitor) with angioedema have been recognized; two forms are hereditary and one is acquired. As compared with hereditary angioedema, the syndrome of acquired C1-inhibitor deficiency is rare, and it is us... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">During the past 25 years, three forms 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 deficiency of the inhibitor of the first component of complement (C1... | [
"hereditary angioedema",
"lymphoproliferative diseases"
] | [
"hereditary"
] | [
"angioedema",
"angioedema",
"recurrent angioedema",
"angioedema"
] | null | null | [
"deficiency of the inhibitor of the first component of complement (C1 inhibitor)",
"acquired C1-inhibitor deficiency",
"acquired C1-inhibitor deficiency",
"IgG1 autoantibodies against C1 inhibitor",
"anti-C1-inhibitor antibodies prevented binding of C1 inhibitor to activated C1s",
"60 to 70 percent of nor... | [
"no associated diseases",
"unopposed activation of the complement system"
] |
hae:2954076 | [Hereditary angioneurotic edema. Treatment of a pseudosurgical digestive attack with C1 inhibitor concentrate]. | [
"Although anabolic androgens can be used to prevent acute attacks of hereditary angioneurotic oedema, these are still observed. When they are severe, and even more so when they involve the larynx or the abdominal viscera, an emergency treatment is necessary, ideally with the purified C1-inhibitor (C1-INH) administe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anabolic androgens\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"acute hereditary angioneurotic oedema"
] | null | [
"acute attacks of hereditary angioneurotic oedema",
"involve the larynx or the abdominal viscera",
"pseudo-surgical abdominal symptoms",
"unusually dramatic regression of all symptoms",
"severe forms affecting the larynx and the viscera"
] | [
"anabolic androgens",
"emergency treatment",
"purified C1-inhibitor (C1-INH) administered by intravenous infusion",
"C1-INH"
] | null | [
"increase in C1-INH and C2 plasma levels and in the number of basophils within less than 30 minutes",
"increase in C4 levels"
] | null |
hae:3610041 | [A case report of hereditary angioedema and studies on the serum components of complement, C1-inactivator and proteinase inhibitors during edema attack]. | [
"Sixteen years old girl was admitted because of for the past ten years' frequent edema attack and abdominal pain. Laboratory examination revealed hypocomplementemia, marked depletion of the fourth component of complement and low level of C1-inactivator. Familial studies revealed that her mother was also hypocomplem... | [
"<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 Sixteen years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | null | null | [
"edema attack",
"abdominal pain",
"edema attack",
"edema attack"
] | null | null | [
"hypocomplementemia",
"marked depletion of the fourth component of complement",
"low level of C1-inactivator",
"alterlation of components of complement, C1-inactivator, alpha 1-antitrypsin, antithrombin III, and alpha 2-macroglobulin",
"The fourth component of complement and C1-inactivator were markedly dep... | [
"alpha 1-antitrypsin and alpha 2-macroglobulin did not change"
] |
hae:3584501 | Hereditary angioneurotic oedema: a neglected diagnosis. | [
"A case of hereditary angioneurotic oedema, which was only diagnosed after presentation to several hospital departments, is reported. It was then discovered that the mother of the patient had the same condition but that, unusually, it appeared to have been in remission for more than 20 years. This disease, due to C... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 hereditary angioneurotic oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"hereditary angioneurotic oedema"
] | null | null | [
"in remission for more than 20 years"
] | null | [
"C1 esterase inhibitor deficiency"
] | null |
hae:3578341 | A family with hereditary angioedema and multiple immunologic disorders. | [
"A 58-year-old man with end-stage renal disease treated with long-term ambulatory peritoneal dialysis gave a history of hereditary angioedema. Results of testing of his serum for antinuclear antibody were strongly positive, and a titer of 1:2,560 for antiribosomal antibody was documented. Three of his six children ... | [
"<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 58-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"end-stage renal disease",
"hereditary angioedema",
"discoid lupus",
"arthritis"
] | null | [
"multiple medical problems",
"episodic swelling",
"immunologic disturbances"
] | [
"treated with long-term ambulatory peritoneal dialysis"
] | null | [
"strongly positive",
"titer of 1:2,560 for antiribosomal antibody",
"decreased C1 esterase inhibitor",
"decreased C4 levels",
"T cell enumeration",
"low proportions of suppressor cells",
"Serum IgM level was low in the propositus",
"IgG level was also decreased in one of the affected children"
] | [
"HLA typing failed to show a clear association of class I or class II antigens with hereditary angioedema",
"Family members tested did not demonstrate anti-SS-A, anti-SS-B, antinuclear antibody, anti-double-stranded DNA, anti-Sm, or anti-ribonuclear protein antibodies"
] |
hae:3829930 | [Contraception and pregnancy in hereditary angioedema]. | [
"The frequent first clinical manifestation of hereditary angioedema (HAE) in pubertal patients and the more frequent attacks of edema during menstruation indicate that the condition is affected by hormones. Medication with oral contraceptives containing estrogens can lead to severe attacks of edema. On the other ha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The frequent first clinical manifestation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em;... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"attacks of edema during menstruation",
"hormones",
"severe attacks of edema",
"death",
"potentially dangerous edema in the postpartal phase"
] | [
"Medication with oral contraceptives containing estrogens",
"administer 500 units C1 inactivator prophylactically before the expulsive phase of birth",
"Oral contraceptives"
] | null | null | null |
hae:3829929 | [Formation of IgG antibodies to C1 inhibitor as the cause of life-threatening angioedema]. | [
"A clinical picture with recurrent (in some cases potentially fatal) edema of skin and internal organs based not on a hereditary C1 inhibitor deficiency, but an acquired loss of C1 inhibitor activity due to antibodies is described for the first time in two patients. The clinical symptoms commenced in middle age pat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A clinical picture with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n recurrent (\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | null | null | [
"recurrent (",
"potentially fatal) edema of skin and internal organs"
] | [
"therapeutic use of C1 inhibitor concentrate at a high doses (6 X 500 U)"
] | null | [
"acquired loss of C1 inhibitor activity due to antibodies",
"Anti C1 antibodies of the IgG",
"these C1 inhibitor protein was in the lower range of normal",
"The function of the complement components C1, C2 and C4 was greatly reduced"
] | [
"hereditary C1 inhibitor deficiency",
"no inhibitor activity could be demonstrated functionally",
"administration of high-dose corticosteroids",
"was unsuccessful"
] |
hae:3829289 | Anaesthetic implications of hereditary angioneurotic oedema. | [
"Hereditary angioneurotic oedema (HANE) presents the danger of laryngeal oedema that may, among other causes, be triggered by the anaesthetist's manipulation of the patient's airway. Local and regional anaesthesia are usually recommended. This report pertains to a patient who successfully tolerated general endotrac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic oedema (HANE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Hereditary angioneurotic oedema (HANE)"
] | null | [
"laryngeal oedema"
] | [
"manipulation of the patient's airway",
"Local and regional anaesthesia",
"general endotracheal anaesthesia",
"prophylactic treatment with danazol and fresh-frozen plasma"
] | null | null | null |
hae:3300229 | Hereditary angioedema: preliminary report on skin biopsy finding of fibrin and/or C4 through immunofluorescence. | [
"Hereditary angioedema is considered an inherited disorder of the complement system, manifested by repeated crises of angioedema involving the skin, the gastrointestinal and respiratory tracts. Biopsies of normal skin obtained from 5 patients, diagnosed with hereditary angioedema, were found to be positive for fibr... | [
"<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"
] | [
"inherited disorder of the complement system"
] | [
"repeated crises of angioedema involving the skin, the gastrointestinal and respiratory tracts"
] | [
"danazol and/or anti-fibrinolytic treatment"
] | null | [
"positive for C4"
] | null |
hae:3801312 | Recurrent angioedema: familial and oestrogen-induced. | [
"We report two sisters who both have had severe attacks of urticaria and angioedema only when taking the contraceptive pill and during the latter half of pregnancy. Although they exhibited many features in common with hereditary angioedema (HAO), the C1 esterase inhibitor levels and other complement components were... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sisters who both have\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"urticaria"
] | null | [
"severe attacks of urticaria and angioedema",
"many features in common with hereditary angioedema (HAO)"
] | [
"taking the contraceptive pill",
"latter half of pregnancy",
"oestrogen challenge"
] | null | [
"levels measured during pregnancy"
] | [
"the C1 esterase inhibitor levels and other complement components were consistently normal"
] |
hae:3773320 | A case of hereditary angioneurotic edema associated with systemic lupus erythematosus. | [
"A pedigree of C1 inhibitor (C1 INH) deficiency associated with positive LE cell and an elevated titer of DNA antibodies and antinuclear factor (ANF) and nephropathy was presented. The proband of this family was diagnosed as having definite systemic lupus erythematosus (SLE) after a clinical course of several year ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A pedigree 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 C1 inhibitor (C1 INH) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"nephropathy",
"systemic lupus erythematosus (SLE)",
"SLE",
"SLE-like disease"
] | [
"is supposedly an inherited autosomal positive trait",
"hereditary"
] | [
"recurrent viral infections",
"ameliorate the clinical course"
] | [
"Methylprednisolone"
] | null | [
"C1 inhibitor (C1 INH) deficiency",
"positive LE cell",
"elevated titer of DNA antibodies and antinuclear factor (ANF)",
"C1 INH levels were 1.2 mg/dl (3.8% NHS) determined as antigen and 65 site forming unit (SFU) (5.8% NHS) determined by hemolytic assay in her blood",
"low levels of C1 INH of 1.8 mg/dl (5... | [
"lack of hemolytic activity of complement (CH50)",
"absence of idiopathic edema",
"SLE was absent for the first several years"
] |
hae:3461063 | Rapidly developing, edematous swelling of the upper lip. | [
"Clinicians should distinguish between hereditary and non-hereditary angioedema, as management of patients varies significantly with each. As many patients with hereditary angioedema have had serious episodes of edema associated with dental procedures, it is important that dentists understand the nature of this dis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinicians should distinguish between \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\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"hereditary",
"non-hereditary angioedema",
"hereditary angioedema"
] | null | [
"serious episodes of edema",
"airway obstruction",
"laryngeal edema"
] | [
"dental procedures",
"life-support measures"
] | null | null | null |
hae:3777557 | [Preoperative preparation and postoperative monitoring of a patient with hereditary angioneurotic edema]. | [
"Hereditary angioneurotic oedema is an autosomal dominant disorder associated with serum deficiency of functionally active C1 inhibitor protein. This decrease is characterized by episodic swelling of subcutaneous tissues, of abdominal viscera and of the upper airway. Attacks of angioneurotic oedema, sometimes fatal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Hereditary angioneurotic oedema"
] | [
"autosomal dominant disorder"
] | [
"episodic swelling of subcutaneous tissues, of abdominal viscera and of the upper airway",
"Attacks of angioneurotic oedema",
"fatal when involving the upper airway",
"angioneurotic oedema"
] | [
"surgery",
"surgery",
"preventive treatments",
"surgery",
"antifibrinolytic agents",
"androgens",
"fresh frozen plasma",
"C1 esterase inhibitor concentrate",
"Preoperative management",
"danazol and C1 esterase inhibitor concentrate"
] | null | [
"serum deficiency of functionally active C1 inhibitor protein"
] | null |
hae:4073602 | Hereditary angioedema: polymorphism. | [
"Four patients with hereditary angioedema were studied. All had low values of C4, C1 INH, (CH 50) complement activity and circulating immune complexes. This report takes into account the different aspects that this disease can present, often quite different from the classical description of hereditary angioedema."
... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Four 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"hereditary angioedema",
"hereditary angioedema"
] | null | null | null | null | [
"low values of C4, C1 INH, (CH 50) complement activity",
"circulating immune complexes"
] | null |
hae:2933439 | Dental management of patients with hereditary angioedema: report of case. | [
"Dental management and treatment of a patient with hereditary angioedema can be accomplished safely and satisfactorily in an outpatient setting by a dentist in collaboration with a physician. However, as acute attacks can occur as a complication of treatment, we recommend that dental treatment be provided in a hosp... | [
"<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 Dental management and treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"hereditary angioedema"
] | null | [
"acute attacks"
] | [
"Dental management and treatment",
"dentist",
"dental treatment"
] | null | null | null |
hae:2422719 | Dialysis leukopenia and hypoxemia in a patient without measurable complement activity. | [
"We have studied complement activity, total leukocyte counts, PO2 and acid-base balance during a single hemodialysis with cuprophan membranes in a patient with hereditary angioedema and C3NeF-positive chronic membranoproliferative glomerulonephritis. Before, during and after the dialytic procedure plasma complement... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have studied \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 activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"hereditary angioedema"
] | null | null | [
"single hemodialysis with cuprophan membranes",
"dialytic procedure",
"hemodialysis",
"hemodialytic procedures",
"dialysis with cuprophan membranes"
] | null | [
"complement activity",
"total leukocyte counts",
"PO2",
"acid-base balance",
"C3NeF-positive chronic membranoproliferative glomerulonephritis",
"plasma complement activity (total hemolytic complement, classical and alternative pathway activities) was not detectable",
"no C3-conversion occurred",
"prof... | null |
hae:4014294 | Guillain-Barré syndrome following danazol and corticosteroid therapy for hereditary angioedema. | [
"A case of hereditary angioedema secondary to C1 esterase inhibitor deficiency associated with lupus-like nephritis is reported. The patient was initially treated with both corticosteroids and danazol and subsequently had Guillain-Barré syndrome together with appearance of circulating immune complexes and an increa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"hereditary angioedema",
"lupus-like nephritis",
"Guillain-Barré syndrome",
"Guillain-Barré syndrome",
"lupus"
] | null | null | [
"initially treated with both corticosteroids and danazol",
"danazol therapy"
] | null | [
"C1 esterase inhibitor deficiency",
"increase in total complement and C1q, C3, C4, B, and C1 esterase inhibitor levels",
"increase both circulating immune complex production and complement synthesis",
"Normalization of complement",
"complement deficiency states"
] | null |
hae:4081477 | [Respiratory manifestations in hereditary angioneurotic edema]. | [
"Hereditary angioneurotic oedema is an autosomal dominant state associated with a quantitative, and sometimes purely functional, deficiency of C1 esterase inhibitor (C1 INH). The clinical manifestations may begin during adulthood or childhood; they are periodical and of varying severity. Beside oedema of the skin a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Hereditary angioneurotic oedema",
"respiratory disorders"
] | [
"autosomal dominant state"
] | [
"oedema of the skin",
"digestive disorders",
"laryngeal oedema",
"lethal asphyxia",
"pulmonary oedema",
"severe attacks",
"moderate side-effects"
] | [
"tracheotomy",
"assisted ventilation",
"treatment with preparations of C1 INH in high concentrations",
"prophylactic, using testosterone derivatives, danazol and stanozolol",
"for long periods"
] | null | [
"quantitative,",
"purely functional, deficiency of C1 esterase inhibitor (C1 INH)",
"decrease in CH50 and C4",
"quantitative assay of C1 INH, which is low",
"complement activation through the classical route",
"activation of the coagulation system contact phase"
] | null |
hae:3855319 | Acute airway obstruction following tooth extraction in hereditary angioedema. | [
"Life threatening airway obstruction occurred following a single tooth extraction in a patient who had hereditary angioedema, despite preoperative administration of FFP and danazol. Emergency intubation was performed in the operating room, and assisted respiration was required during the acute attack. The clinician... | [
"<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 Life threatening airway obstruction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"hereditary angioedema"
] | null | [
"Life threatening airway obstruction",
"acute attack",
"acute attack of HAE"
] | [
"single tooth extraction",
"Emergency intubation",
"operating room",
"assisted respiration",
"emergency airway control"
] | null | null | [
"despite preoperative administration of FFP and danazol"
] |
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