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:16188868 | Recurring acute abdominal pains in an adolescent as the presenting manifestations of hereditary angioneurotic oedema. | [
"An adolescent was hospitalized for recurring abdominal pains, which had previously led to appendicectomy. Laboratory data finally led to the diagnosis of hereditary angioneurotic oedema, after several hypotheses had been raised and ruled out.",
"Angioneurotic oedema is a rare condition, which should be suspected... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adolescent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioneurotic oedema",
"Angioneurotic oedema"
] | null | [
"recurring abdominal pains",
"recurring abdominal pains"
] | null | null | null | [
"which had previously led to appendicectomy",
"after several hypotheses had been raised and ruled out"
] |
hae:16117356 | Angio-oedema in dentistry: management of two cases using C1 esterase inhibitor. | [
"Angio-oedema is a rare condition; it may be a hereditary or acquired form. It results from biochemical defects which cause excessive activation of the complement cascade and result in deep swellings in the skin and alimentary tract, called angio-oedema. These swellings are painful rather than itchy and not associa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Angio-oedema",
"angio-oedema",
"hereditary",
"acquired angio-oedema"
] | [
"hereditary",
"biochemical defects"
] | [
"deep swellings in the skin and alimentary tract",
"angio-oedema",
"swellings",
"painful rather than itchy",
"mild trauma",
"swelling, which may be life-threatening in the oral region",
"angio-oedema",
"prevent swelling"
] | [
"C1 esterase inhibitor prophylaxis",
"prophylactic measures"
] | null | [
"excessive activation of the complement cascade"
] | [
"not associated with urticaria",
"allergic reactions"
] |
hae:15924048 | [Reticular erythema signalling the onset of episodes of hereditary angioedema in a child]. | [
"Hereditary angioedema is characterized by episodes of subcutaneous, digestive or laryngeal edema. In some cases, non-pruritic reticular erythema may precede the episodes of edema.",
"Every 4 to 6 weeks since infancy, a girl presented non-pruritic widespread reticular erythema, sparing the face. Two or three time... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"type I hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"episodes of subcutaneous, digestive or laryngeal edema",
"non-pruritic reticular erythema",
"episodes of edema",
"non-pruritic widespread reticular erythema, sparing the face",
"abdominal pain",
"edema of the lower limb joints",
"skin eruption",
"edema of the face associated with the eruption",
"Re... | null | null | null | [
"absence of any episode of angioedema"
] |
hae:15902525 | Non-rheumatoid erosive arthritis associated with type I hereditary angioedema. | [
"Hereditary angioedema (HAE) is an autosomal dominant disease that causes recurrent attacks of non-pitting edema of soft tissues, without pruritus. This disorder can also affect internal organs. The cause of HAE consists in quantitative or qualitative defective production of C1 inhibitor (C1-INH). Many autoimmune 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)",
"HAE",
"autoimmune diseases",
"systemic lupus erythematosus (SLE) (or SLE-like syndromes)",
"Sjögren's syndrome",
"scleroderma",
"thyroiditis",
"glomerulonephritis",
"inflammatory bowel disease",
"HAE",
"pure arthritis",
"association between HAE",
"non-rheumato... | [
"autosomal dominant disease"
] | [
"recurrent attacks of non-pitting edema of soft tissues",
"internal organs"
] | null | null | [
"quantitative or qualitative defective production of C1 inhibitor (C1-INH)"
] | [
"without pruritus"
] |
hae:15890504 | [Hereditary angioneurotic edema: a case report in a 3-year-old child]. | [
"Hereditary angioneurotic edema is a dominant autosomal disease (incidence 1/150,000), whose diagnosis is crucial as this condition can lead to fatal asphyxia within minutes. We report the case of a three-year-old girl, misdiagnosed as allergic asthma. Recognition of the syndrome led to adapted care restoring norma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | [
"dominant autosomal disease"
] | [
"fatal asphyxia"
] | [
"adapted care restoring normal family and school life"
] | null | null | [
"misdiagnosed as allergic asthma"
] |
hae:15777525 | Idiopatic angioedema treated with dapsone. | [
"The most commonly identified causes of angioedema are medications, allergens and physical agents, but most cases of angioedema are idiopathic. Treatment depends on identification of the causative agent and, especially when the mechanism is not identified, on the clinicians knowledge and experience with innovative ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most commonly identified causes 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; lin... | [
"angioedema",
"angioedema",
"idiopathic angioedema"
] | null | [
"allergens",
"physical agents",
"3-month history of recurrent severe episodes of angioedema affecting the lips, tongue and throat",
"laryngeal edema during some episodes"
] | [
"medications",
"For the previous 4 years",
"had been receiving levothyroxine for autoimmune thyroiditis",
"treated with sedating and nonsedating H1 antihistamines and corticosteroids (prednisone 30 mg/day for 3 months)",
"treatment with 50 mg of dapsone daily",
"antihistamine and corticoid treatment was w... | null | [
"serum immunoglobulins",
"IgE concentration was 30 UI/ml",
"Antiperoxidase antibodies were positive (535 UI/ml)"
] | [
"idiopathic",
"did not report abdominal pain",
"nausea or vomiting",
"No precipitating factors were identified",
"not receiving angiotensin-converting enzyme inhibitors",
"no history of facial palsy or hereditary angioedema",
"Skin prick test with aeroallergens, food, latex, Anisakis and patch test to a... |
hae:15662581 | [Angioedema in hereditary deficiency of complement factor 1 esterase inhibitor and alpha 1-antitrypsin]. | [
"A 15-year-old girl had suffered from episodic, sometimes threatening angioedema of the face, nasopharyngeal space and distal extremities beginning at age 13.",
"A C1-esterase inhibitor (C1-INH) deficiency was revealed protein-chemically and functionally. There was also an alpha (1)-antitrypsin (AAT) deficiency w... | [
"<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; ... | [
"angioedema",
"hereditary angioedema"
] | [
"two hereditary enzyme defects C1-INH deficiency (autosomal-dominant genetics)",
"(autosomal-recessive)"
] | [
"episodic, sometimes threatening angioedema of the face, nasopharyngeal space and distal extremities"
] | [
"Under 8-month therapy with 200 mg/d danazol per os (reduction of the dosis in the last month to 100 mg/d)",
"use of the emergency set with C1-INH concentrate was not required"
] | null | [
"C1-esterase inhibitor (C1-INH) deficiency",
"alpha (1)-antitrypsin (AAT) deficiency",
"combination of C1-INH and AAT deficiency",
"the C1-INH concentration normalized",
"increase in C1-INH function",
"AAT deficiency"
] | [
"no further edema"
] |
hae:15643320 | Hereditary angioedema presenting as epiglottitis. | [
"Hereditary angioedema is a disorder characterized by decreased levels or function of complement C1 esterase inhibitor. Symptoms in children generally consist of recurrent episodes of soft tissue swelling. On rare occasion, it can cause airway edema which may lead to airway obstruction. A case is presented of a chi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema"
] | null | [
"recurrent episodes of soft tissue swelling",
"airway edema",
"airway obstruction",
"epiglottitis",
"stopping progression of laryngeal edema and other forms of swelling",
"airway edema"
] | [
"intubation",
"establishing an adequate airway",
"good oxygenation and ventilation",
"prompt administration of C1 esterase inhibitor concentrate",
"such as glucocorticoids, antihistamines, H1-blockers",
"epinephrine"
] | null | [
"decreased levels or function of complement C1 esterase inhibitor"
] | [
"tend not to be effective for reducing swelling"
] |
hae:15499486 | [Therapeutic approach of hereditary angioedema]. | [
"Hereditary Angioedema was first described by William Osler in 1888 and it is caused by a hereditary or acquired deficiency of C1 esterase inhibitor (C1-INH). Treatment is indicated for acute attacks or prophylaxis of angioedema which occur in the subcutaneous tissue respiratory or gastrointestinal tracts. Treatmen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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",
"HAE",
"HAE",
"HAE",
"HAE"
] | [
"hereditary or acquired deficiency of C1 esterase inhibitor (C1-INH)"
] | [
"acute attacks",
"prophylaxis of angioedema which occur in the subcutaneous tissue respiratory or gastrointestinal tracts",
"recurrent subcutaneous edema",
"previous laryngeal edema",
"sporadic symptoms",
"high risk of asphyxia"
] | [
"attenuated androgens",
"inhibitors of kininogen or plasminogen, like tranexamic acid or e-aminocaproic acid",
"administration of C1-INH concentrate",
"controlled with e-aminocaproic acid",
"had been changed from danazol to tranexamic acid",
"oxandrolone",
"treated with danazol",
"prophylactic therapy... | null | [
"C1-INH, C4 and C3 levels",
"hemolytic assay (CH50 and APH50) for the classic and alternative pathways",
"low C1-INH levels (10/10)",
"low serum C4 level (8/10)",
"undetectable CH50 (3/10) and low CH50 levels (6/10)",
"low APH50 levels (2/10)"
] | [
"did not receive any specific treatment",
"not require drug therapy"
] |
hae:15468971 | Worsening fluid retention in a patient with hereditary angioedema and end-stage renal disease. | [
"A 60-year-old woman who was diagnosed with hereditary angioedema (HAE) developed nephrotic syndrome, with end-stage renal disease (ESRD) occurring about 2.5 years later. During her slide toward ESRD, she experienced three severe episodes of angioedema that each resulted in significant fluid retention. Though the t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 60-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioedema (HAE)",
"nephrotic syndrome",
"end-stage renal disease (ESRD)",
"ESRD"
] | null | [
"severe episodes of angioedema",
"significant fluid retention",
"angioedema",
"attacks of angioedema"
] | [
"therapeutic administration of C1-inhibitor concentrate"
] | null | [
"low colloid osmolality",
"glomerular perfusion"
] | [
"seemed ineffective in preventing her from developing ESRD requiring hemodialysis treatment"
] |
hae:15213920 | Recurrent colocolic intussusception in a child with hereditary angioneurotic edema: reduction by air enema. | [
"The authors discuss a case of hereditary angioneurotic edema in a child presenting with recurrent episodes of colocolic intussusception, each successfully reduced by air enema. Although additional manifestations of vasogenic edema are potential risks of the procedure, these were not encountered."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors discuss 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 edema\n <span style=\"font-size: 0.8em; font-weight... | [
"hereditary angioneurotic edema"
] | null | [
"recurrent episodes of colocolic intussusception",
"additional manifestations of vasogenic edema"
] | [
"air enema"
] | null | null | null |
hae:15185613 | [Hereditary angioneurotic edema (Quincke's edema). Report of a case and literature review]. | [
"Familiar angioneurotic edema or Quincke's edema is an uncommon variant of urticaria, associated or not, that involves the subcutanean cell tissue and mucous of the face and upper airdigestive tract. It can produce an acute dyspnea and risk of suffocation with intubation or tracheostomy up to a 20% of the cases. Th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familiar angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"urticaria",
"UCI"
] | [
"autosomal dominant inheritance"
] | [
"Familiar angioneurotic edema",
"Quincke's edema",
"involves the subcutanean cell tissue and mucous of the face and upper airdigestive tract",
"acute dyspnea",
"suffocation"
] | [
"intubation",
"tracheostomy",
"operated by tracheotomy",
"emergency coniotomy"
] | null | [
"deficit in C esterasa inhibitor"
] | [
"failure for orotracheal intubation"
] |
hae:15098611 | A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema. | [
"We describe a patient with type I hereditary angioedema presenting recurrent episodes of skin swelling and abdominal pain. Laboratory examination showed reduced levels of CH50 and C4 with a normal C3 level. The C1 inhibitor was decreased to 7.0 mg/dl (normal, 10-25 mg/dl) with a remarkably reduced activity (<25%; ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type I hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"type I hereditary angioedema"
] | [
"novel point mutation at the 3' acceptor mRNA splice site of the intron 5 (G-->A at nucleotide 8722)",
"mutation may abolish the correct splicing of the intron 5 and create unstable mRNA"
] | [
"recurrent episodes of skin swelling",
"abdominal pain"
] | null | null | [
"reduced levels of CH50 and C4",
"normal C3 level",
"The C1 inhibitor was decreased to 7.0 mg/dl (normal, 10-25 mg/dl) with a remarkably reduced activity (<25%; normal, 80-125%)"
] | null |
hae:15049404 | Oxandrolone treatment of childhood hereditary angioedema. | [
"The virilizing effects of danazol, stanozolol, and methyltestosterone significantly restrict the usefulness of these agents in the treatment of children with hereditary angioedema (HAE). Oxandrolone is a synthetic anabolic steroid with limited virilizing effects that has been used in a variety of pediatric conditi... | [
"<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 virilizing effects of danazol\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"recurrent, life-threatening episodes of angioedema",
"marked reduction in clinical episodes",
"recurrence of symptoms",
"early signs of virilization",
"significant clinical and laboratory evidence of a therapeutic effect",
"life-threatening episodes of angioedema"
] | [
"stanozolol",
"methyltestosterone",
"Oxandrolone is a synthetic anabolic steroid",
"effective use of oxandrolone",
"Oxandrolone was administered at a dose of 0.1 mg/kg per day",
"Oxandrolone therapy",
"cessation of oxandrolone therapy",
"Oxandrolone treatment",
"lowest dose of oxandrolone"
] | null | [
"normalization of serum complement levels",
"decreased complement levels"
] | [
"virilizing effects of danazol",
"limited virilizing effects"
] |
hae:14999972 | [Osler's hereditary angioneurotic edema as rare but possible cause of false surgical acute abdomen]. | [
"The authors are presenting one case of Osler's hereditary angioneurotic oedema, rare genetic disease with dominant autosomal transmission linked to the 11-th chromosome, with clinical aspects resembling to those of surgical acute abdomen, with difficult diagnostic problems. The treatment consist in: fresh plasma a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors are presenting one 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 Osler's hereditary angioneurotic oedema\n <span style=\"font-size: ... | [
"Osler's hereditary angioneurotic oedema",
"Osler's hereditary angioneurotic oedema"
] | [
"rare genetic disease with dominant autosomal transmission linked to the 11-th chromosome"
] | [
"clinical aspects resembling to those of surgical acute abdomen"
] | [
"fresh plasma administration",
"antihistaminic drugs",
"anabolic steroids",
"simple laparotomy under general anaesthesia by orotraheal intubation"
] | null | null | null |
hae:14974896 | [Hereditary angioedema of delayed onset]. | [
"Hereditary angioedema is a disorder characterized by episodes of angioedema of the skin, respiratory and gastrointestinal tract resulting from a defect in the C1 esterase inhibitor. The disease is hereditary. Inheritance is autosomal dominant with incomplete penetration. We report a 56-year-old man with edema in 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema"
] | [
"hereditary",
"Inheritance is autosomal dominant with incomplete penetration"
] | [
"episodes of angioedema of the skin, respiratory and gastrointestinal tract",
"edema in different locations as forearm, testicles and palms"
] | null | null | [
"defect in the C1 esterase inhibitor",
"low levels of C4, and C1 inhibitor"
] | null |
hae:14747456 | Normal complement C4 values do not exclude hereditary angioedema. | [
"This report describes a patient with hereditary angioedema (HAE) in whom complement C4 values were consistently normal. There was a family history of HAE, for which the patient had previously been screened, but in view of her normal C4 values she was deemed unaffected. However, at 10 years of age she presented wit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-we... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"episodes of swelling affecting her hands",
"recurrent episodes of abdominal pain over the previous few months",
"swellings",
"episodes of swelling were occurring less often and were less severe"
] | [
"started on tranexamic acid"
] | null | [
"C4 and C1 inhibitor (C1inh)",
"C4 concentration was found to be within the normal range",
"the C1inh value was low (0.07 g/litre; normal range, 0.18-0.37)",
"C4 and C1inh concentrations"
] | [
"complement C4 values were consistently normal",
"normal C4 values",
"complement C4 concentrations are normal",
"C4 concentrations can be normal"
] |
hae:14696809 | A case of hereditary angioedema with recurrent arthritis, erythema marginatum-like rash and chest pain. | [
"Hereditary angioedema (HAE) results from a congenital deficiency of C1 inhibitor and is characterized by submucosal and subcutaneous edema of skin, larynx and abdomen. Occasional reports have appeared linking HAE with autoimmune diseases. We report a case of HAE presenting recurrent nondeforming polyarthritis, ery... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"autoimmune diseases",
"HAE"
] | [
"congenital"
] | [
"submucosal and subcutaneous edema of skin, larynx and abdomen",
"recurrent nondeforming polyarthritis",
"erythema marginatum-like rash",
"chest pain"
] | null | null | [
"deficiency of C1 inhibitor"
] | [
"no significant radiographic joint changes",
"Serologic tests for rheumatologic and autoimmune diseases were negative",
"After danazol treatment",
"physical examination and laboratory findings were normal over five years"
] |
hae:14603997 | Two related cases of primary complement deficiency. | [
"Primary complement deficiencies are rare and two related patients are reported here. The first patient is a 41-year-old man with eighteen episodes of pneumococcal meningitis and other purulent infections. The serum C3 level was checked at three separate times, showing that this was a primary C3 deficient case; oth... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Primary complement deficiencies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"glomerulonephritis",
"hereditary angioedema",
"angioedema"
] | [
"genetic mutation"
] | [
"eighteen episodes of pneumococcal meningitis",
"other purulent infections",
"repeated episodes of orofacial and laryngeal edema",
"dyspnea"
] | [
"prophylactic antibiotics",
"Danazol and Stanasol"
] | null | [
"Primary complement deficiencies",
"serum C3 level was checked",
"primary C3 deficient",
"serum C1INH levels were 4.3 to 7 which is very low compared with normal healthy subjects (C1INH was 40-50 mg/dl)",
"C4 was lower than normal"
] | [
"other immunological tests were normal",
"meningitis had not recurred",
"other immunological tests were normal",
"Other causes of angioedema such as lymphoproliferative disorders were excluded",
"without a family background"
] |
hae:14600687 | Management of oral surgery in patients with hereditary or acquired angioedemas: review and case report. | [
"Angioedemas are a rare but significant event in simple oral surgery because they can cause an acute life-threatening laryngeal edema. We report a case of a tooth extraction in a patient with hereditary angioedema, for which the C1-inhibitor (C1-INH) concentration administered effectively controlled edema during an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioedemas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Angioedemas",
"hereditary angioedema",
"hereditary and acquired angioedemas",
"type 2 acquired angioedema",
"angioedema",
"angioedema",
"angioedema"
] | null | [
"acute life-threatening laryngeal edema",
"controlled edema during and after extraction",
"laryngeal edema"
] | [
"simple oral surgery",
"tooth extraction",
"C1-inhibitor (C1-INH) concentration administered",
"oral surgery",
"teeth extraction",
"replacement therapy with fresh frozen plasma",
"managed only with danazol",
"oral surgery",
"replacement therapy with C1-INH"
] | null | [
"C1-INH concentration"
] | [
"this was on occasion insufficient"
] |
hae:14572817 | Safety and efficacy of pasteurized C1 inhibitor concentrate (Berinert P) in hereditary angioedema: a review. jean.de.serres@aventis.com. | [
"Hereditary angioedema caused by C1 inhibitor deficiency can be life threatening. Acute exacerbations are treated with intravenous purified, pasteurized C1 esterase inhibitor concentrate at doses of 500-1000 IU.",
"We reviewed the literature about safety and efficacy of the C1 inhibitor concentrate used in Canada... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 | [
"life threatening",
"Acute exacerbations",
"clinical resolution of symptoms"
] | [
"intravenous purified, pasteurized C1 esterase inhibitor concentrate at doses of 500-1000 IU",
"C1 inhibitor concentrate",
"Berinert P)"
] | null | [
"C1 inhibitor deficiency"
] | [
"few adverse events",
"no transmission of infection with the pasteurized product"
] |
hae:12968401 | Hereditary angioedema and pneumomediastinum. | [
"Gastrointestinal and respiratory involvement is common in hereditary angioedema, laryngeal edema being the main cause of mortality in these patients. We report the case of an 18 year-old woman with a history of hereditary angioedema, who presented an episode of coughing and vomiting the night before, and who was 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 Gastrointestinal and respiratory involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"hereditary angioedema",
"hereditary angioedema",
"pneumomediastinum",
"angioedema"
] | null | [
"Gastrointestinal and respiratory involvement",
"laryngeal edema",
"episode of coughing",
"vomiting",
"mediastinic emphysema"
] | null | null | null | null |
hae:12956349 | Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema. | [
"Recurrent angioedema is the hallmark of various inherited or acquired angioedema diseases. Hereditary angioedema, or HAE, due to C1 inhibitor, or C1NH, deficiency has considerable implications for dental health care providers because dental surgery may trigger distressing and even life-threatening episodes.",
"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 Recurrent angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"acquired angioedema diseases",
"Hereditary angioedema, or HAE",
"HAE",
"HAE"
] | [
"inherited"
] | [
"Recurrent angioedema",
"distressing and even life-threatening episodes",
"died",
"laryngeal edema",
"self-limiting edema episodes",
"lip swelling",
"facial swelling",
"tongue edema",
"laryngeal edema",
"upper airway obstruction",
"symptom-free latency of four to 30 hours",
"laryngeal edema",
... | [
"dental surgery",
"tooth extraction",
"dental surgery",
"tooth extraction",
"Preoperative prophylaxis",
"attenuated androgens, fresh frozen plasma, C1NH concentrate and antifibrinolytics",
"tooth extraction",
"surgery",
"dental surgery"
] | null | [
"C1 inhibitor, or C1NH, deficiency",
"C1NH deficiency"
] | [
"laryngeal edema had not occurred previously"
] |
hae:12631186 | C-1 esterase inhibitor dysfunction localised to the periodontal tissues: clues to the role of stress in the pathogenesis of chronic periodontitis? | [
"C1-esterase inhibitor (C1eIn) is an important modulator of complement activation via the classical pathway. Deficiencies or dysfunction involving this inhibitor underlie the condition of angioneurotic oedema.",
"The purpose of this report is to describe a female patient who presented at the age of 24 years with ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n C1-esterase inhibitor (C1eIn)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | null | [
"hereditary dysfunctional C1eIn deficiency"
] | [
"angioneurotic oedema",
"apparently aggressive form of periodontitis",
"severe oedema, localised to the free gingival tissues",
"angio-oedema localised to the free gingiva",
"stress",
"acute exacerbations of oedema",
"bone loss"
] | [
"21 years of repeated surgical reduction of the gingiva",
"managed by various means",
"steriodal and non-steroidal drugs",
"the latter forming part of her maintenance regime"
] | null | [
"C1-esterase inhibitor (C1eIn)",
"modulator of complement activation via the classical pathway",
"Deficiencies",
"dysfunction involving this inhibitor",
"C1eIn dysfunction",
"function of the C1eIn molecule",
"functional activity of only 29%",
"undetectable levels of C1eIn and normal C1q",
"C1eIn dys... | [
"All investigations were unremarkable"
] |
hae:12572187 | Hereditary angioedema: a case report and literature review. | [
"Hereditary angioedema is an autosomal dominant condition with a typical presentation of diffuse edematous, painless, and nonpitting swelling of the soft tissues. The disease manifests itself primarily in the extremities, face, airway, and abdominal viscera. Proper diagnosis and treatment are essential as this cond... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema",
"Hereditary angioedema",
"hereditary angioedema"
] | [
"autosomal dominant"
] | [
"diffuse edematous, painless, and nonpitting swelling of the soft tissues",
"primarily in the extremities, face, airway, and abdominal viscera",
"life-threatening",
"airway embarrassment",
"diffuse swelling",
"abdominal discomfort"
] | null | null | null | null |
hae:12440338 | [The rare case of successful pregnancy and delivery in patient with hereditary angioedema]. | [
"A rare case of successful pregnancy and delivery of a patient with Hereditary angioedema is described. The complications of the disease during pregnancy are described as well as the possibilities for their prevention. The delivery was accomplished without complications and the preoperative preparations are listed.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A rare case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n successful pregnancy and delivery\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Hereditary angioedema",
"pregnancy",
"HAE"
] | null | null | [
"successful pregnancy and delivery",
"delivery",
"short-term (Fresh frozen plasma) and long-term prophylaxis (antifibrinolytic agents, androgen therapy)",
"acute treatment (epinephrine, steroids, antihistamines, eventually tracheotomy)"
] | null | null | [
"without complications"
] |
hae:12402667 | [Angioedema: first manifestation of non-Hodgkin's lymphoma]. | [
"Angioedema can be hereditary or acquired. Hereditary angioedema is a genetic disease transmitted with an autosomal dominant mechanism. Acquired angioedema usually occurs after the second decade of life and is often related to an underlying disease. In a 48-year-old male patient a diagnosis of a non-Hodgkin lymphom... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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",
"acquired",
"Hereditary angioedema",
"Acquired angioedema",
"non-Hodgkin lymphoma",
"anaplastic large-cells lymphoma CD30+, anaplastic lymphoma kinase negative"
] | [
"hereditary",
"genetic disease transmitted with an autosomal dominant mechanism"
] | [
"angioedema",
"epigastric pain after meals",
"weight loss",
"two solid splenic masses infiltrating the greater curvature of the stomach and a 2 cm aortic lymph node",
"decrease in size of the aortic lymph node and splenic mass"
] | [
"chemotherapy"
] | null | [
"serum levels of C1-esterase inhibitor were reduced",
"Serum levels of C1-esterase inhibitor returned to normal"
] | [
"physical examination and routine blood samples were normal",
"not associated with a family history of angioedema"
] |
hae:12227484 | Lupus erythematosus associated with C1 inhibitor deficiency. | [
"We report here a patient with skin lesions of lupus erythematosus (LE) associated with a type 1 hereditary C1 inhibitor deficiency. She had not experienced any episodes of angioedema. A histological examination of the affected skin lesions demonstrated liquefaction of the basal cell layer in the perifollicule. Dir... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skin lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"lupus erythematosus (LE)",
"associated with SLE",
"DLE",
"LE-like eruption",
"SCLE"
] | null | [
"skin lesions",
"affected skin lesions",
"skin lesions became pigmented",
"cutaneous manifestations",
"photosensitivity"
] | [
"topical corticosteroid therapy"
] | null | [
"type 1 hereditary C1 inhibitor deficiency",
"low levels of CH50, C1q, C4, C2 and C1 inhibitor",
"changed to positive",
"deficient complement component levels remained unchanged",
"hereditary C1 inhibitor deficiency",
"antinuclear antibodies"
] | [
"not experienced any episodes of angioedema",
"the C3 and C5 levels were within normal limits",
"antinuclear antibody titer was negative initially"
] |
hae:12224485 | [Recurrent attacks of angioedema ascribed to the use of estrogen preparations and a pregnancy (hereditary angioedema type 3)]. | [
"A woman experienced recurrent attacks of angioedema from the age of 17 to 21 years and these appeared to be associated with the use of oestrogens. After stopping the medication her complaints disappeared, but they returned during her first pregnancy. Angioedema is a serious condition, which can lead to acute abdom... | [
"<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 woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Angioedema",
"hereditary angioedema",
"hereditary angioedema (type 3)"
] | [
"autosomal dominant disorder"
] | [
"recurrent attacks of angioedema",
"pregnancy",
"acute abdominal symptoms",
"oedema of the upper respiratory tract",
"death",
"asphyxiation",
"oestrogen dependency (both endogenous and exogenous)",
"severe attacks of angioedema",
"clinically indistinguishable from the classic form"
] | [
"use of oestrogens",
"stopping the medication"
] | null | [
"deficiency of C1 esterase inhibitor (C1-INH)"
] | [
"normal C1-INH concentrations"
] |
hae:12222724 | Acute abdominal attack of hereditary angioneurotic oedema associated with ultrasound abnormalities suggestive of acute hepatitis. | [
"Hereditary angioneurotic oedema (HANO) is an autosomal dominant disorder caused by a deficiency of the inhibitor protein Cl-esterase. Recurrent subcutaneous and/or submucosal oedema formation is a hallmark of this disease. HANO is a rare, but potentially life-threatening disorder with a mortality around 20-30%. Ac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic oedema (HANO)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Hereditary angioneurotic oedema (HANO)",
"HANO",
"HANO",
"HANO"
] | [
"autosomal dominant disorder"
] | [
"Recurrent subcutaneous and/or submucosal oedema formation",
"Acute oedematous abdominal attacks",
"ascites",
"abnormalities of hepatic structure visible with ultrasound",
"oedematous attack"
] | [
"surgical emergency"
] | null | [
"deficiency of the inhibitor protein Cl-esterase"
] | null |
hae:12139356 | Hereditary angioedema: a rare but potentially lethal disease. | [
"Hereditary angioedema, although uncommon, should be considered in the differential diagnosis of all patients with facial edema. In this article, we present a case of hereditary angioedema and discuss the presentation, diagnosis, and management of the disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema"
] | null | [
"facial edema"
] | null | null | null | null |
hae:12001796 | Episodic swelling in a pregnant woman from Bangladesh: evaluation and management of angioedema in pregnancy. | [
"Deficiencies in the C1 inhibitor protein are central to the pathogenesis of acquired and hereditary angioedema syndromes. Here, we present a case of a patient who developed recurrent episodes of angioedema during pregnancy. We discuss the evaluation of patients presenting with angioedema, describe the mechanisms b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Deficiencies in the C1 inhibitor protein\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"acquired",
"hereditary angioedema syndromes",
"pregnancy",
"angioedema",
"angioedema",
"angioedema"
] | null | [
"recurrent episodes of angioedema"
] | null | null | [
"Deficiencies in the C1 inhibitor protein",
"deficiencies in C1 inhibitor"
] | null |
hae:11990338 | Hereditary angioedema with recurrent abdominal pain. | [
"Hereditary angioedema is a rare disorder characterized by quantitative or qualitative deficiency of complement C1 esterase inhibitor. We report a family whose members presented with recurrent angioedema and abdominal pain; the diagnosis was confirmed by quantitative assay of C1 inhibitor. The index patient was tre... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 | [
"abdominal pain"
] | [
"danazol"
] | null | [
"quantitative or qualitative deficiency of complement C1 esterase inhibitor",
"quantitative assay of C1 inhibitor"
] | null |
hae:11898272 | Spontaneous angioedema of oral cavity after dental impressions. | [
"Maxillofacial angioedema is a rare condition encountered by the oral and maxillofacial surgeon. Its significance lies in its potential to partially or totally obstruct the upper airway secondary to acute sudden swelling. In some individuals, angioedema is hereditary; in others, it occurs spontaneously, without war... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Maxillofacial angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Maxillofacial angioedema",
"angioedema",
"allergic reaction"
] | [
"hereditary"
] | [
"partially or totally obstruct the upper airway",
"acute sudden swelling",
"perioral angioedema secondary to dental impressions"
] | null | null | null | null |
hae:11855162 | A case of hereditary angioedema associated with idiopathic hypoparathyroidism. | [
"Hereditary angioedema is a rare autosomal dominant disease characterized by the edema of subcutaneous tissues, respiratory tract and bowel. It is caused by the deficiency of C1 esterase inhibitor. Hereditary angioedema may be associated with autoimmune diseases, such as systemic lupus erythematosus, rheumatoid art... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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",
"autoimmune diseases",
"systemic lupus erythematosus",
"rheumatoid arthritis",
"autoimmune thyroiditis",
"glomerulonephritis",
"hereditary angioedema",
"hereditary angioedema in association with idiopathic hypoparathyroidism"
] | [
"rare autosomal dominant disease",
"Autoimmunity"
] | [
"edema of subcutaneous tissues, respiratory tract and bowel",
"idiopathic hypoparathyroidism"
] | null | null | [
"deficiency of C1 esterase inhibitor",
"immune dysfunction",
"decreased level of complements"
] | null |
hae:11823949 | [Hereditary deficiency of C1-esterase inhibitor presenting with recurrent abdominal pain]. | [
"Hereditary deficiency of C1-esterase inhibitor (C1-INH) which clinically manifests as hereditary angioedema is a rare disorder. In previously not diagnosed cases, a fatality rate of up to 30 % has been reported. The diagnosis of C1-esterase inhibitor deficiency should not be missed in patients presenting with angi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | [
"Hereditary"
] | [
"angioedema in the face, stem or extremities",
"recurrent abdominal pain",
"swelling of the hands"
] | null | null | [
"deficiency of C1-esterase inhibitor (C1-INH)",
"C1-esterase inhibitor deficiency"
] | null |
hae:11743247 | Hereditary angioedema as a cause of transient abdominal pain. | [
"Isolated angioedema, without urticaria or itching, occurs as a result of an inherited or acquired defect in C1 esterase inhibitor activity. Most cases of isolated angioedema are caused by one of two types of hereditary angioedema (HAE). We present a case of the much rarer type II HAE with abdominal pain as the sol... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Isolated angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Isolated angioedema",
"isolated angioedema",
"hereditary angioedema (HAE)",
"type II HAE",
"Hereditary angioedema"
] | [
"inherited"
] | [
"abdominal pain",
"episodic abdominal pain",
"episodic abdominal pain in family members"
] | null | null | [
"defect in C1 esterase inhibitor activity"
] | [
"without urticaria or itching",
"common causes have been excluded"
] |
hae:11726426 | Hemostatic analysis of a patient with hereditary angioedema undergoing coronary artery bypass grafting. | [
"Hereditary angioedema is a disease associated with acute complement-mediated inflammation and swelling of the airway and other vital organs. This case describes the impact of hereditary angioedema and cardiopulmonary bypass on hemostasis as assessed by thrombelastography."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema"
] | null | [
"acute complement-mediated inflammation",
"swelling of the airway and other vital organs"
] | [
"cardiopulmonary bypass"
] | null | null | null |
hae:11720182 | Angiooedema due to acquired deficiency of C1-esterase inhibitor associated with leucocytoclastic vasculitis. | [
"A hereditary and an acquired type of C1-esterase inhibitor deficiency have been described. Manifestations characteristic of both forms include recurrent subcutaneous and submucosal angiooedema. Acquired C1-esterase inhibitor deficiency has been observed in association with lymphoproliferative disorders, malignancy... | [
"<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 hereditary\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"lymphoproliferative disorders",
"malignancy",
"autoimmune diseases",
"infections",
"acquired form of the disease",
"leucocytoclastic vasculitis"
] | [
"hereditary"
] | [
"recurrent subcutaneous and submucosal angiooedema",
"complete resolution of symptoms and signs"
] | [
"antimalarial agents"
] | null | [
"C1-esterase inhibitor deficiency",
"Acquired C1-esterase inhibitor deficiency",
"C1-esterase inhibitor concentration and activity, as well as C1 levels, all returned to normal"
] | null |
hae:11677428 | Changes in splenoportal axis calibre and flow in a patient affected by hereditary angioedema. | [
"The authors describe a case of hereditary angioedema characterised by abdominal pain accompanied by ascites. Ultrasound (US) examination performed after acute abdominal attack implied the presence of increased splenoportal axis calibre and reduced blood flow. According to the authors, this may confirm the pathogen... | [
"<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 | [
"abdominal pain",
"ascites",
"acute abdominal attack",
"presence of increased splenoportal axis calibre and reduced blood flow",
"major haemodynamic involvement also of abdominal vessels",
"transient appearance",
"acute abdomen"
] | null | null | [
"C1-inhibitor deficiency induced oedema"
] | [
"dangerous invasive procedures"
] |
hae:11527246 | Hereditary angioedema first apparent in the ninth decade during treatment with ACE inhibitor. | [
"Hereditary angioedema ordinarily manifests itself in childhood. The development of angioedema in this disease and as a side effect of angiotensin-converting enzyme inhibitor treatment is caused by similar mechanisms.",
"We report a case of female patient, diagnosed with hereditary angioedema at age 90, who exper... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"angioedema"
] | null | [
"angioedema",
"experienced the first attack 8 years earlier"
] | [
"angiotensin-converting enzyme inhibitor treatment",
"angiotensin-converting enzyme inhibitor use",
"treatment with angiotensin-converting enzyme inhibitor"
] | null | null | null |
hae:11524698 | [Sonography in hereditary angioedema: typical findings demonstrated by the example of 3 cases]. | [
"Hereditary angioedema (HAE) is a hereditary disorder (deficiency of C1 esterase inhibitor) with spontaneous cutaneous and subcutaneous edemas, which involve the gastrointestinal tract in 50 - 75 %. Recurrent abdominal pain attacks in younger patients with an ultrasonographic evidence of aszites (up to 1 - 2 litres... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE"
] | [
"hereditary disorder"
] | [
"spontaneous cutaneous and subcutaneous edemas",
"involve the gastrointestinal tract",
"Recurrent abdominal pain attacks",
"ultrasonographic evidence of aszites (up to 1 - 2 litres are frequent)",
"pleural effusion",
"segments of GI-tract with a marked wall thickening",
"stomach (2 x), small bowel (2 x)... | [
"application of C1-INH-concentrate"
] | null | [
"deficiency of C1 esterase inhibitor"
] | null |
hae:11508436 | A new type of acquired C1 inhibitor deficiency associated with systemic lupus erythematosus. | [
"Acquired C1 inhibitor (C1-INH) deficiency with consequent angioedema is a rare condition that may indicate an underlying lymphoproliferative disorder. The defect is caused by increased catabolism, which is often associated with the presence of serum autoantibodies to C1-INH. The present report describes 3 patients... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acquired C1 inhibitor (C1-INH) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"lymphoproliferative disorder",
"systemic lupus erythematosus",
"lupus",
"angioedema syndrome",
"acquired",
"hereditary angioedema"
] | null | [
"angioedema",
"acquired angioedema",
"recurrent swelling of subcutaneous and mucous tissues",
"angioedema",
"systemic autoimmunity"
] | [
"treated with steroids"
] | null | [
"Acquired C1 inhibitor (C1-INH) deficiency",
"increased catabolism",
"serum autoantibodies to C1-INH",
"major classical pathway-mediated complement consumption",
"very low levels of C3 antigen",
"decreased levels of C1-INH antigen",
"normalization of plasma levels of C1-INH",
"parameters of the classi... | [
"Neither antibodies to C1-INH nor associated lymphoproliferative disease was found",
"No patient had clinical and biologic signs of lupus activity",
"without relapse of angioedema"
] |
hae:11460039 | [Vibratory angioedema]. | [
"Vibratory angioedema is a rare form of physical urticaria. This entity can be an hereditary autosomal dominant disorder or an acquired sporadic disease. Immediate and delayed forms have been reported.",
"A 34-year-old woman was referred to us for a vibratory angioedema induced by mountain biking. Despite her han... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Vibratory angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Vibratory angioedema",
"physical urticaria"
] | [
"hereditary autosomal dominant disorder",
"acquired sporadic disease"
] | [
"vibratory angioedema",
"clinical tolerance",
"disappearance of pruritus",
"physiological response of the body to intense vibratory stimulations"
] | [
"mountain biking",
"continued her physical effort",
"vibratory stimulus using a Vortex for 5 minutes",
"controlled vibratory stimuli"
] | null | null | [
"Despite her handicap",
"not of erythema and edema"
] |
hae:11432329 | [Hereditary angioedema in organs of the head and neck as an indication for emergency tracheotomy]. | [
"Angioedema (angioneurotic edema) is often associated with urticaria, but edema is located deeper in the skin and mucous membranes. There are limited, painless, soft and medium hard swellings. Lack of general symptoms is evident, except if mucous membranes of the gastrointestinal system are affected and pain appear... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 (angioneurotic edema)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Angioedema (angioneurotic edema)",
"urticaria",
"hereditary angioedema",
"Hereditary angioedema",
"angioedema",
"hereditary angioedema",
"acute hereditary angioedema attacks",
"Hereditary angioedema of the head and neck"
] | [
"inherited autosomal dominant disorder",
"heterozygotes"
] | [
"edema is located deeper in the skin and mucous membranes",
"limited, painless, soft and medium hard swellings",
"mucous membranes of the gastrointestinal system are affected",
"pain appears",
"located in the brain or larynx",
"suffocation",
"laryngeal involvement",
"swelling at the front side of neck... | [
"intubation or tracheotomy",
"intravenous steroid therapy",
"infusion of physiologic solution with calcium",
"transported to the operation room",
"adrenaline",
"Emergency tracheotomy",
"tracheotomy",
"Tracheotomy",
"surgical interventions",
"antihistamines, corticosteroids and adrenaline",
"admi... | null | [
"deficit in C esterase inhibitor, which is a serum glycoprotein of SERPIN family (serum protease inhibitors)",
"hepatocytes",
"decreased quantity of inhibitor level in serum due to decreased synthesis",
"normal protein concentrations",
"abnormal protein, which is functionally inactive"
] | [
"Lack of general symptoms",
"Larynx was not visible",
"respiration did not improve",
"respiration and skin colour became normal"
] |
hae:11405163 | [Hereditary C1 esterase inhibitor deficiency type I. Divergence of clinical symptoms and laboratory chemical findings]. | [
"A 35- and a 29-year-old woman presented with longstanding recurrent angioedema refractory to therapy with steroids and antihistaminic drugs. Laboratory data revealed in both cases a functional and immunohistochemical deficiency of C1-esterase-inhibitor protein (C1-INH). Further investigations of their families sho... | [
"<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 35- and a 29-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"angioedema",
"C1-INH-deficiency type I"
] | null | [
"longstanding recurrent angioedema"
] | null | null | [
"functional and immunohistochemical deficiency of C1-esterase-inhibitor protein (C1-INH)"
] | [
"refractory to therapy with steroids and antihistaminic drugs",
"without any clinical symptoms",
"refractory to therapy with steroids and antihistamines drugs",
"no correlation between clinical symptoms and laboratory findings"
] |
hae:11341109 | Life-threatening angioedema in systemic lupus erythematosus. | [
"Life-threatening angioedema involving the upper respiratory tract is an uncommon manifestation in systemic lupus erythematosus (SLE). We report three patients in their late adolescence who had laryngeal oedema causing airway obstruction and requiring mechanical ventilation during active disease following symptoms ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 angioedema involving the upper respiratory tract\n <span style=\"font-size: 0.8em; font-w... | [
"systemic lupus erythematosus (SLE)",
"lupus",
"angioedema",
"SLE",
"SLE",
"angioedema",
"SLE"
] | null | [
"Life-threatening angioedema involving the upper respiratory tract",
"laryngeal oedema",
"airway obstruction",
"active disease",
"symptoms of a respiratory tract infection",
"major organ involvement",
"life-threatening angioedema following respiratory tract infection"
] | [
"requiring mechanical ventilation"
] | null | [
"anti-Cl inhibitor (Cl INH) autoantibody"
] | [
"none had a family history of hereditary angioedema (HAE)"
] |
hae:11321752 | Sonographic appearances of the abdominal manifestations of hereditary angioedema. | [
"Hereditary angioedema (HAE) is the autosomal dominant deficiency of C1-esterase inhibitor. There have hitherto been no reports on the US appearances of HAE. The unique case of a 12-year-old girl with recurrent abdominal pain is reported, in whom HAE was diagnosed by US and family history of paroxysmal dyspnoea, cu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE"
] | [
"autosomal dominant deficiency of C1-esterase inhibitor"
] | [
"recurrent abdominal pain",
"cutaneous swelling",
"attacks of abdominal pain",
"intestinal oedema",
"ascites",
"episode of abdominal pain",
"Oedema",
"ascites persisted for at least 3 days",
"massive intestinal oedema"
] | null | null | null | null |
hae:11315937 | Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling. | [
"We describe a patient with hereditary angioedema (HAE), showing recurrent edema around the peripheral joints. Her symptoms began at the age of 18 with hand swelling distal to the wrist joints. Until she was referred to our hospital 3 years after her initial symptoms, she was still undiagnosed, although she was sus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE",
"HAE"
] | [
"newly identified de novo mutation of G to A at nucleotide 16869 in exon 8"
] | [
"recurrent edema around the peripheral joints",
"hand swelling distal to the wrist joints",
"localized edema around the peripheral joints",
"joint swelling"
] | null | null | [
"reduced levels of CH50 and C4",
"normal C3 levels",
"The C1 inhibitor (C1-INH) was decreased to 5 mg/ml, with remarkably reduced activity"
] | [
"was still undiagnosed",
"suspected of having rheumatoid arthritis",
"no episodes of skin edema in her family"
] |
hae:11194925 | Hereditary angio-edema involving the gastrointestinal tract: CT findings. | [
"We report a case of hereditary angio-edema in a young man presenting with recurrent abdominal pain for many years. The diagnosis was suspected on the basis of abdominal CT performed during an abdominal attack and was then confirmed by the measurement of serum concentration of C1 esterase inhibitor (C1-INH). To our... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angio-edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"hereditary angio-edema",
"hereditary form of angio-edema"
] | null | [
"recurrent abdominal pain for many years",
"abdominal attack",
"isolated abdominal pain"
] | null | null | [
"measurement of serum concentration of C1 esterase inhibitor (C1-INH)"
] | null |
hae:11194524 | [Perioperative treatment of a patient with hereditary angioedema (HAE) in a case of a young patient with osteosynthesis from a femoral fracture]. | [
"The following case report describes hereditary angioedema (HAE) in a juvenile male patient presenting with femoral fracture. The clinical characteristics, pathophysiological changes, diagnostics and management of anaesthesia for patients with hereditary angioedema will be discussed. Hereditary angioedema (HAE) is ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The following case report describes \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-wei... | [
"hereditary angioedema (HAE)",
"hereditary angioedema",
"Hereditary angioedema (HAE)",
"HAE",
"allergic angioedema",
"acute attacks of HAE"
] | [
"rare autosomal dominant disorder",
"congenital"
] | [
"episodic and painless edema of the skin (face and limbs) and mucous membranes of the respiratory and gastrointestinal tracts",
"abdominal cramps due to edema of the intestine)",
"Life-threatening airway obstruction",
"laryngeal edema",
"acute attacks",
"prevention of edema"
] | [
"femoral fracture",
"anaesthesia",
"C1-INH-concentrate"
] | null | [
"deficiency of functional C1-inhibitor (C1-INH)"
] | null |
hae:11132070 | Unusual manifestations of hereditary angioedema. | [
"Hereditary angioedema is a hereditary disorder transmitted as an autosomal dominant trait, characterized by reduced plasma concentration of C1 esterase inhibitor (type 1) or the presence of non functional C1 esterase inhibitor (type 2). We describe and discuss the case of a 35-year-old man who presented two unusua... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"type 2 hereditary angioedema"
] | [
"hereditary disorder transmitted as an autosomal dominant trait"
] | [
"two unusual clinical manifestations",
"acute abdomen",
"parasellar oedema"
] | null | null | [
"reduced plasma concentration of C1 esterase inhibitor (type 1)",
"presence of non functional C1 esterase inhibitor (type 2)"
] | null |
hae:11105624 | Hereditary angioedema: case report of a family. | [
"Hereditary angioedema (HAE) is a rare disease resulting from deficiency of complement 1 esterase inhibitor (C1-INH). The clinical manifestations of this disease include recurrent attacks of self-limiting edema affecting face, extremities, gastrointestinal system and upper airways. In this report, we present eleven... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"recurrent attacks of self-limiting edema affecting face, extremities, gastrointestinal system and upper airways",
"Edema of the extremities",
"severe laryngeal edema",
"facial and scrotal edema",
"severe abdominal pain",
"died",
"laryngeal edema"
] | [
"tracheotomy"
] | null | [
"deficiency of complement 1 esterase inhibitor (C1-INH)",
"C1-INH levels were undetectable",
"low",
"CH50 was undetectable",
"C4 level for",
"was low",
"low C1-INH, CH50 and C4"
] | [
"laboratory studies could not be done"
] |
hae:11014377 | Hereditary angioedema precipitated by estrogen replacement therapy in a menopausal woman. | [
"We report the first documented case in the literature of hereditary angioedema presenting after commencement of estrogen replacement therapy for menopausal symptoms. The late presentation of the disease and the precipitation of attacks by physiological doses of estrogen replacement therapy make this a highly unusu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the first documented case in the literature 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: ... | [
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"menopausal symptoms",
"precipitation of attacks"
] | [
"commencement of estrogen replacement therapy",
"physiological doses of estrogen replacement therapy"
] | null | null | null |
hae:10984376 | Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. | [
"Two genetic forms of hereditary angioedema (HAE) are currently recognized. Both are transmitted in an autosomal dominant manner and are characterized by recurrent episodes of localized angioedema. Involvement of the gut leads to episodes of severe abdominal pain, and laryngeal involvement can lead to airway obstru... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two genetic 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 hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE",
"novel form of inherited angioedema"
] | [
"transmitted in an autosomal dominant manner",
"heterozygosity for a nonexpressed C1 inhibitor allele",
"heterozygosity for a nonfunctional C1 inhibitor allele",
"transmitted in an autosomal dominant fashion"
] | [
"recurrent episodes of localized angioedema",
"Involvement of the gut",
"episodes of severe abdominal pain",
"laryngeal involvement",
"airway obstruction",
"death",
"unique estrogen-dependent phenotype",
"Episodes of angioedema",
"clinically indistinguishable from those associated with",
"pregnanc... | [
"use of exogenous estrogens",
"acetyl salicylic acid/nonsteroidal anti-inflammatory drug-related angioedema"
] | null | [
"Determination of serum complement factors, C1 inhibitor protein, C1 inhibitor function, coagulation factor XII, plasma prekallikrein, high molecular weight kininogen",
"C1 inhibitor protein, C1 inhibitor function, C2, C4, C1q, coagulation factor XII, prekallikrein, and high molecular kininogen were normal in 3 a... | [
"asymptomatic",
"no abnormality in 3 patients in the coding region of the gene encoding C1 inhibitor or in the 5' flanking regions of the genes encoding C1 inhibitor and factor XII",
"does not result from C1 inhibitor deficiency or dysfunction"
] |
hae:10929449 | [A rare cause of muscle pain and elevated creatine kinase level--the paroxysmal non-hereditary angioedema]. | [
"Systemic capillary leak syndrome is a rare idiopathic disorder characterized by recurrent episodes of hypotension and hemoconcentration due to sudden transient extravasation of up to 70% of plasma. Less than 40 cases have appeared in the literature. Mortality rates 5 years after diagnosis have been reported to be ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Systemic capillary leak syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Systemic capillary leak syndrome",
"idiopathic disorder",
"monoclonal gammopathy",
"rhabdomyolysis",
"rheumatic myopathies",
"myositis",
"rhabdomyolysis",
"systemic capillary leak syndrome"
] | null | [
"recurrent episodes of hypotension",
"generalized edema",
"increased compartment pressure",
"ischemic myonecrosis",
"condition is stable for a total of 30 months"
] | [
"prophylactic regimen with oral terbutaline plus theophylline"
] | null | [
"hemoconcentration",
"sudden transient extravasation of up to 70% of plasma",
"intravasal fluid deficiency",
"hypoalbuminemia",
"extreme hemoconcentration"
] | null |
hae:10923586 | Acquired angioedema associated with sinusitis. | [
"Acute and chronic sinusitis are major clinical problems faced by physicians in several disciplines. Although there is a much studied relationship between sinusitis and asthma, as well as a well-known association of sinusitis and Wegener's granulomatosis, there is scant evidence suggesting an association of angioed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acute and chronic sinusitis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Acute and chronic sinusitis",
"sinusitis",
"asthma",
"sinusitis",
"Wegener's granulomatosis",
"angioedema",
"sinusitis",
"Angioedema",
"chronic urticaria",
"angioedema",
"chronic sinusitis",
"chronic sinusitis",
"angioedema",
"sinusitis",
"urticaria"
] | null | [
"extremely disfiguring",
"compromised airways",
"angioedema",
"symptoms suggesting a sinus infection",
"marked improvement in their angioedema",
"mild episodes of angioedema",
"recurrence of sinusitis symptoms",
"strong evidence of sinusitis",
"CT scan",
"dramatic improvement in angioedema"
] | [
"sinusitis treatment",
"antibiotics",
"sinusitis treatment"
] | null | null | [
"drug or food allergies",
"None had further severe angioedema episodes"
] |
hae:10887769 | [Hereditary Osler angioedema (report of case)]. | [
"A case of Osler's hereditary angioedema, that show a halimark of aedema of facing, neck, hands and foots, respiratory difficulty, to feel sick, to vomit, diarrhoea and abdominal pain, from the seven years old."
] | [
"<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 Osler's hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Osler's hereditary angioedema"
] | null | [
"halimark of aedema of facing, neck, hands and foots",
"respiratory difficulty",
"to feel sick",
"to vomit",
"diarrhoea",
"abdominal pain"
] | null | null | null | null |
hae:10799088 | Hereditary angioneurotic edema and familial Crohn's disease. | [
"A 29-year-old man with Crohn's disease involving the ileum and cecum was seen. He had angioneurotic edema with C1' esterase inhibitor deficiency. Later, his 50-year-old mother was evaluated because of abdominal pain. She had recurrent urticaria, C1' esterase inhibitor deficiency and radiographic studies showed Cro... | [
"<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 29-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | [
"closely linked genetically with a familial form of Crohn's disease"
] | [
"Crohn's disease involving the ileum and cecum",
"angioneurotic edema",
"abdominal pain",
"recurrent urticaria",
"angioneurotic edema"
] | null | null | [
"C1' esterase inhibitor deficiency",
"C1' esterase inhibitor deficiency",
"C1' esterase inhibitor deficiency"
] | null |
hae:10769859 | Management of children with hereditary angioedema: a report of two cases. | [
"Dentists must take extreme care in treating patients with Hereditary Angioedema (HAE). Physical trauma, emotional stress, or anxiety during dental treatment could lead to an acute attack that may lead to a laryngeal obstruction. This article reviews clinical signs and symptoms, disease classification, pathophysiol... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Dentists must take extreme care in treating patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary Angioedema (HAE)\n <span style=\"font... | [
"Hereditary Angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"Physical trauma",
"emotional stress",
"anxiety",
"acute attack",
"laryngeal obstruction"
] | [
"dental treatment"
] | null | null | null |
hae:10761488 | Asphyxiation by laryngeal edema in patients with hereditary angioedema. | [
"To describe the occurrence of fatal laryngeal edema in patients with hereditary angioedema due to C1 esterase inhibitor deficiency.",
"We describe 6 patients from various regions of Germany who died from laryngeal edema within the last 10 years. Furthermore, we conducted a retrospective survey of 58 patients wit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the occurrence 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 fatal laryngeal edema\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"fatal laryngeal edema",
"died",
"laryngeal edema",
"onset of the laryngeal edema",
"asphyxiation",
"deaths",
"asphyxiation",
"asphyxiation",
"Laryngeal edema",
"fatal",
"asphyxiation",
"laryngeal edema"
] | [
"emergency cricothyrotomy"
] | [
"Germany"
] | [
"C1 esterase inhibitor deficiency"
] | [
"None",
"or received C1 inhibitor concentrate"
] |
hae:10737976 | AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. | [
"Glycerol kinase deficiency has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an Xp21 contiguous gene syndrome. Here we report the case of a male with benign isolated glycerol kinase deficiency who was incidentally identified after obs... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Glycerol kinase deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"hereditary angioedema"
] | [
"Xp21 contiguous gene syndrome",
"insertion of an AluY sequence in intron 4 of the glycerol kinase gene",
"Alu insertions",
"closely related AluY element is found as an insert in the C1 inhibitor gene",
"Alu insertion"
] | null | null | null | [
"Glycerol kinase deficiency",
"benign isolated glycerol kinase deficiency",
"pseudohypertriglyceridemia",
"glycerol kinase deficiency"
] | null |
hae:10631923 | Two cases of Townes-Brocks syndrome. | [
"Townes-Brocks syndrome (TBS) has been recognized as a dominant inherited syndrome. We report 2 cases of TBS. Case 1 was operated on for imperforate anus. Triphalangeal thumb and ear anomalies were remarkable. Deafness was diagnosed when the patient was 6 months old. Anomalies of the semicircular canals and the inc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Townes-Brocks syndrome (TBS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Townes-Brocks syndrome (TBS)",
"TBS",
"hereditary angioneurotic edema (HANE)",
"HANE",
"TBS",
"TBS"
] | [
"dominant inherited syndrome",
"A (5, 16) translocation",
"breakpoint in 16q21.1",
"gene coding for a transcription factor SALL1",
"mutations in the putative zinc finger of SALL1"
] | [
"Triphalangeal thumb",
"ear anomalies",
"Deafness",
"Anomalies of the semicircular canals and the incus with inculomalleolar fusion",
"recurrent episodes of abdominal pain",
"antepositioned anus",
"bifid right thumb",
"large toes",
"low set ears",
"microretrognathia",
"deafness"
] | [
"operated on",
"imperforate anus"
] | null | null | null |
hae:10525217 | Sonographic findings in abdominal hereditary angioedema. | [
"Patients with hereditary angioedema (HAE) may suffer from abdominal pain severe enough to prompt unnecessary surgical intervention. The diagnostic approach to abdominal pain during HAE attacks is not established. We describe abdominal sonographic findings during severe colic in 2 patients with known HAE. Sonograph... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"hereditary angioedema (HAE)",
"HAE attacks",
"HAE",
"HAE",
"HAE"
] | null | [
"abdominal pain severe enough",
"abdominal pain",
"severe colic",
"marked mucosal thickening and edema of the bowel wall",
"variable amount of free peritoneal fluid",
"acute abdominal pain",
"abdominal colic of unknown origin"
] | [
"unnecessary surgery"
] | null | null | [
"unnecessary surgical intervention"
] |
hae:10444984 | [Uvular edema. Diagnostic, etiologic and therapeutic management]. | [
"Acute oedema of the uvula is relatively rare, and often idiopathic. None the less, possible causes should be excluded, such as allergy, infection, trauma or mechanical. Hereditary angioneurotic oedema should be excluded when there are identical recurrent episodes. Although three of our patients had a recent herpet... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acute oedema of the uvula\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"idiopathic",
"Hereditary angioneurotic oedema",
"herpetic viral infection",
"hereditary angioneurotic oedema"
] | null | [
"Acute oedema of the uvula",
"allergy",
"infection",
"trauma",
"mechanical",
"identical recurrent episodes",
"obstruction of the upper airway"
] | [
"Treatment consists mainly or antihistamines, steroids, antibiotics",
"specific treatment"
] | null | null | null |
hae:10427658 | Angioedema due to acquired C1-esterase inhibitor deficiency in a patient with Helicobacter pylori infection. | [
"The first component of the classical pathway of the complement system, C1 is regulated by a serum protein, the C1-esterase inhibitor (C1-INH). Deficiency of this protein leads to the release of vasoactive mediators (C2 kinin and bradykinin) that increase vascular permeability and can induce edema formation in subc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The first component \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of the classical pathway of the complement system\n <span style=\"font-size: 0.8em; fo... | [
"lymphoproliferative diseases",
"malignancy",
"immune disorders",
"Helicobacter pylori infection",
"Helicobacter pylori infection",
"H. pylori"
] | [
"genetic variant of C1-INH deficiency",
"is inherited as an autosomal dominant trait"
] | [
"increase vascular permeability",
"edema formation in subcutaneous and submucosal tissues",
"hereditary angioneurotic edema",
"infections",
"resolution of symptoms"
] | [
"Complete eradication of this pathogen"
] | null | [
"of the classical pathway of the complement system",
"C1",
"serum protein, the C1-esterase inhibitor (C1-INH)",
"Deficiency of this protein",
"release of vasoactive mediators (C2 kinin and bradykinin)",
"C1-INH deficiency",
"acquired C1-INH deficiency",
"normalization of serum complement levels",
"a... | null |
hae:10420726 | [Hereditary angioedema. Diagnostic and treatment errors as systemic lupus erythematosus]. | [
"Symptoms of hereditary angioedema are intermittent edema of subcutaneous tissues, abdominal organs, upper airways, and brain. Because of spontaneous mutation, in 20% of patients a familial history is lacking. Serological hallmarks are diminished complement factor 4 and C1-esterase inhibitor. The heterogenicity of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Symptoms 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; bor... | [
"hereditary angioedema",
"systemic lupus erythematosus",
"hereditary angioedema",
"hereditary angioedema"
] | [
"spontaneous mutation"
] | [
"intermittent edema of subcutaneous tissues, abdominal organs, upper airways, and brain",
"heterogenicity of the clinical symptoms",
"intermittent joint swellings",
"abdominal complaints",
"pleural effusions",
"ascites",
"headaches",
"disturbances of consciousness",
"intermittent swellings",
"abdo... | [
"ACE inhibitors"
] | null | [
"diminished complement factor 4 and C1-esterase inhibitor"
] | [
"Immunosuppressive therapy was ineffective over months",
"without adequate diagnosis"
] |
hae:10376461 | Hereditary angioedema with gastrointestinal involvement: endoscopic appearance. | [
"We present the first reported case of hereditary angioedema (HAE) with gastric involvement to be successfully evaluated by endoscopy both during and after an attack. A 31-year-old man who had a family history of angioedema was admitted to our hospital with complaints of abdominal pain and swelling of extremities. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the first reported 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)\n <span style=\"font-size: 0.8em; font-w... | [
"hereditary angioedema (HAE)",
"HAE",
"HAE"
] | null | [
"gastric involvement",
"abdominal pain",
"swelling of extremities",
"transient gastrointestinal wall edema",
"gastrointestinal involvement",
"the gastric mucosa was erythematous and edematous",
"parts of its surface bulged into the gastric lumen, resembling a submucosal tumor",
"massive submucosal ede... | null | null | [
"decreased levels of serum C4 and C1 inhibitor"
] | null |
hae:10203164 | Angioedema presenting in the retropharyngeal space in an adult. | [
"Hereditary angioedema is a rare disorder of deficient or dysfunctional C1-esterase inhibitor and usually manifests as edema of the face, tongue, supraglottis, extremities, or gastrointestinal tract. We report the case of a 40-year-old man with known hereditary angioedema who presented with a sore throat and a sens... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema",
"angioedema",
"Hereditary angioedema"
] | null | [
"edema of the face, tongue, supraglottis, extremities, or gastrointestinal tract",
"sore throat",
"sensation of evolving airway obstruction",
"angioedema manifesting in the retropharyngeal space",
"posterior pharyngeal fullness",
"non-contrast-enhancing retropharyngeal edema from the base of the skull to ... | [
"requiring hospitalization",
"three prior tracheotomies",
"rapid treatment course (including intravenous stanozolol, Solu-Medrol, and diphenhydramine)"
] | null | [
"deficient or dysfunctional C1-esterase inhibitor"
] | [
"avoided the need for tracheotomy"
] |
hae:10073681 | Coincidence of hereditary angioedema (HAE) with Crohn's disease. | [
"A patient with two diseases, based presumably on different immunopathological mechanisms, hereditary angioedema (HAE) and Crohn's disease, was followed for 8 years. For more than three years of this observation period, detailed laboratory data were also available and could be analyzed. Both diseases had severe cou... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with two diseases, based presumably on different immunopathological mechanisms, \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 angioede... | [
"hereditary angioedema (HAE)",
"Crohn's disease",
"exacerbation of Crohn's disease",
"HAE",
"Crohn's disease"
] | null | [
"severe courses",
"HAE attacks",
"acute exacerbation of Crohn's disease"
] | [
"chronic treatment with danazol and sulfasalazine"
] | null | [
"the levels of C4 was found to be significantly lower than during the periods free of symptoms of both diseases",
"drop",
"impaired C1-inhibitor activity"
] | null |
hae:9816408 | Chronic angioedema. Three relevant cases. | [
"Three cases of clinical angioedema are reported in which the etiopathogenetic involvement of qualitative and quantitative complement disorders was demonstrated. The first patient had a functional deficit in C1 inhibitor, the second had a decrease in CH50, and the third, a reduction in the C1q, C3, and C4 fractions... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinical angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"clinical angioedema",
"hereditary angioedema",
"angioedema"
] | null | [
"laryngeal edema",
"laryngeal edema"
] | [
"correct medication",
"antifibrinolytic agents",
"Epsilon-aminocaproic acid and tranexamic acid",
"androgens danazol and stanazolol",
"stanazolol"
] | null | [
"qualitative and quantitative complement disorders",
"functional deficit in C1 inhibitor",
"decrease in CH50",
"reduction in the C1q, C3, and C4 fractions",
"inhibit the formation of plasmin and fragments of the Hageman factor",
"inhibiting kallikrein and bradykinin production"
] | [
"did not include antihistamines or steroids",
"none had abdominal manifestations"
] |
hae:9793531 | [Hereditary angioedema. A rare cause of acute abdominal pain with ascites]. | [
"Since the age of 16 years a now 25-year-old woman had been known to have C1-inhibitor (C1-INH) deficiency. She presented herself at the emergency department because of acute severe lower abdominal cramps. A urinary infection had been treated with antibiotics for the previous 4 days. There was marked pain on pressu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Since 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 age of 16 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"urinary infection",
"hereditary angioedema"
] | null | [
"acute severe lower abdominal cramps",
"marked pain on pressure over the lower abdomen",
"oedema of the duodenum",
"free fluid in the abdomen",
"All symptoms completely disappeared after 2 days",
"Exclusively gastrointestinal symptoms",
"ascites",
"acute abdomen"
] | [
"treated with antibiotics for the previous 4 days",
"symptomatic treatment",
"C1-INH administration",
"Prevention with attenuated androgens"
] | null | [
"C1-inhibitor (C1-INH) deficiency",
"leukocytosis of 10,200/microliter",
"moderately elevated C-reactive protein (44.8 mg/l)",
"haemoglobin concentration of 17 g/dl",
"haematocrit of 51%",
"C1-INH deficiency"
] | [
"no signs of peritonitis",
"bowel sound were normal",
"no nausea or vomiting",
"stools had been normal",
"excluding an acute abdomen"
] |
hae:9785079 | General anaesthetic for a pilonidal sinus excision in a patient with hereditary angio-oedema. | [
"Hereditary angio-oedema is an autosomal dominant condition resulting in a deficiency of C1 esterase inhibitor protein in serum. The condition is characterized by oedematous attacks in the skin, mucous membranes and gastrointestinal tract triggered by mental and physical stress. We present the rare case of a young ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Hereditary angio-oedema",
"hereditary angio-oedema",
"spina bifida occulta"
] | [
"autosomal dominant"
] | [
"oedematous attacks in the skin, mucous membranes and gastrointestinal tract",
"mental and physical stress"
] | [
"elective pilonidal sinus excision"
] | null | [
"deficiency of C1 esterase inhibitor protein in serum"
] | null |
hae:9652897 | Hereditary angioneurotic edema and thromboembolic diseases: I: How symptoms of acute attacks change with aging. | [
"Localized edema of the larynx and pharynx leading to death from asphyxia has long been recognized as a characteristic symptom of hereditary angioneurotic edema (HANE). Long-term follow-up of younger HANE patients has revealed that transient localized acute attacks of edema affect tissues where the microcirculation... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Localized edema of the larynx and pharynx\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"hereditary angioneurotic edema (HANE)",
"HANE",
"HANE",
"HANE"
] | null | [
"Localized edema of the larynx and pharynx",
"death from asphyxia",
"transient localized acute attacks of edema affect tissues where the microcirculation maintains the blood supply",
"disseminated intravascular coagulation (DIC)",
"multiple organ failure (MOF)",
"fulminant lethal end",
"DIC",
"MOF"
] | [
"Substitution with a C1-inhibitor (C1-INH)"
] | null | [
"rapid and profound decrease in antithrombin-III (AT-III) activity",
"activate plasma proteinase systems",
"generation of plasma kallikrein that activates the tissue factor pathway (TF)",
"liberates bradykinin (BK)",
"BK enhances vascular permeability",
"activated TF is controlled by tissue factor pathway... | null |
hae:9644877 | [Abdominal pain and ascites as manifestations of hereditary angioneurotic edema]. | [
"Hereditary angioneurotic edema (HAE) is an infrequent autosomal dominant disorder characterized by a decrease in the levels or a dysfunction of the complement C1 inhibitor factor (C1 inh). The clinical presentation varies widely and involves any area of the organism. Gastrointestinal involvement is usually as abdo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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",
"HAE"
] | [
"infrequent autosomal dominant disorder"
] | [
"Gastrointestinal involvement",
"abdominal pain",
"ascites",
"abdominal pain",
"ascites",
"abdominal pain of unknown origin",
"ascites",
"abdominal pain",
"ascites",
"abdominal pain",
"ascites"
] | [
"initiation of medical treatment",
"exploratory laparotomy"
] | null | [
"decrease in the levels or a dysfunction of the complement C1 inhibitor factor (C1 inh)"
] | null |
hae:9613166 | [Simultaneous occurrence of hereditary angioneurotic edema and Crohn disease]. | [
"Hereditary C1 esterase inhibitor deficiency is often associated with immunpathologic disorders. The authors present a case of the rare coincidence of hereditary angioedema (HAE) and Crohn's disease. The history of the patient is analysed along with the familial occurrence of the disease. Characteristic abdominal m... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary C1 esterase inhibitor deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"immunpathologic disorders",
"rare coincidence of hereditary angioedema (HAE) and Crohn's disease"
] | null | [
"Characteristic abdominal manifestations",
"clinical signs of Crohn's disease"
] | null | null | [
"Hereditary C1 esterase inhibitor deficiency",
"C1 esterase inhibitor deficiency"
] | null |
hae:9579556 | A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema. | [
"We studied the molecular genetic basis of a C1 inhibitor deficiency in a patient with type I hereditary angioneurotic edema using both the polymerase chain reaction and nucleotide sequencing. A single nucleotide change (T-->A) at the GT 5' donor splice recognition motif in the seventh intron of the C1 inhibitor ge... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied the molecular genetic basis 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 C1 inhibitor deficiency\n <span style=\"font-size: 0.8em; font... | [
"type I hereditary angioneurotic edema"
] | [
"single nucleotide change (T-->A) at the GT 5' donor splice recognition motif in the seventh intron of the C1 inhibitor gene",
"donor splice site is essential for an excising of the intron during mRNA processing",
"aberrant mRNA splicing"
] | [
"hereditary angioneurotic edema"
] | null | null | [
"C1 inhibitor deficiency",
"decreased level of C1 inhibitor activity",
"C1 inhibitor mRNA",
"its contents were reduced by about 50% compared",
"rapid degradation of the transcript"
] | null |
hae:9573738 | Acquired angio-oedema caused by IgA paraprotein. | [
"The syndrome of acquired angio-oedema is characterized by late onset of recurrent bouts of angio-oedema or abdominal pain and may be caused by an acquired deficiency of C1-inhibitor (C1-INH), the inhibitor of the first component of complement. Acquired C1-INH deficiency has been described in approximately 50 patie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The syndrome 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 acquired angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"acquired angio-oedema",
"Angio-oedema",
"angio-oedema"
] | null | [
"late onset of recurrent bouts of angio-oedema",
"abdominal pain",
"recurrent abdominal symptoms",
"angio-oedema"
] | null | [
"Dutch"
] | [
"acquired deficiency of C1-inhibitor (C1-INH), the inhibitor of the first component of complement",
"Acquired C1-INH deficiency",
"acquired C1-INH deficiency",
"presence of IgA-kappa antibodies that inactivate C1-INH",
"autoantibody of the IgA isotype"
] | [
"without evidence of overt myeloma"
] |
hae:9553599 | Hereditary angioedema. Complex symptoms can make diagnosis difficult. | [
"Although rare, hereditary angioedema is a potentially life-threatening disorder that can be difficult to diagnose. It is characterized by a deficiency in C1 esterase inhibitor (C1 INH). Manifestations include gastrointestinal, subcutaneous, and respiratory edema. Factors that trigger episodes vary. Symptoms typica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although rare, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"hereditary angioedema"
] | null | [
"gastrointestinal, subcutaneous, and respiratory edema",
"Acute episodes"
] | [
"prophylactic therapy with attenuated androgens or antifibrinolytic agents",
"airway management",
"administration of plasma concentrate of C1 INH."
] | null | [
"deficiency in C1 esterase inhibitor (C1 INH)"
] | null |
hae:9538488 | Coexistence of hereditary angioedema and Turner's syndrome. | [
"A 34-year-old woman presented to the out-patient clinic with angioedema and type II hereditary angioedema was confirmed immunologically. She also volunteered she had never had a menstrual period and physical examination identified several features of Turner's syndrome. A mosaic karyotype with XY and XO was found o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 34-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"type II hereditary angioedema",
"gonadoblastoma",
"Coexistence of hereditary angioedema and Turner's syndrome",
"hereditary angioedema"
] | [
"mosaic karyotype with XY and XO"
] | [
"angioedema",
"several features of Turner's syndrome",
"marked deterioration in both the severity and frequency of angioedema attacks"
] | [
"gonadectomy",
"commencing oestrogen at physiological replacement doses"
] | null | [
"detrimental C1 inhibitor level lowering effect of oestrogen"
] | [
"never had a menstrual period"
] |
hae:9510626 | Hereditary angioedema: an unusual case in an African-American woman. | [
"Hereditary angioedema is a rare disorder characterized by a localized subepithelial edema and swelling of the gastrointestinal and upper respiratory tract. The disorder is estimated to occur in 1 in 50,000 to 150,000 individuals. However, the prevalence of the disorder among the African-American population is unce... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"hereditary angioedema"
] | null | [
"localized subepithelial edema",
"swelling of the gastrointestinal and upper respiratory tract",
"symptoms persisted for more than a decade"
] | null | [
"African-American",
"African-American"
] | null | null |
hae:9499956 | [Digestive manifestations of hereditary angioneurotic edema. Apropos of a case]. | [
"We present a case of hereditary angioedema with cutaneous and intestinal manifestations mimicking a small bowel tumor on computed tomography, and in which unnecessary surgery was avoided by follow-up computed tomography. We discuss the pathophysiology, clinical and radiological manifestations of the disease, as we... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 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-heigh... | [
"hereditary angioedema"
] | null | [
"cutaneous and intestinal manifestations mimicking a small bowel tumor"
] | null | null | null | [
"unnecessary surgery was avoided"
] |
hae:9410707 | [Ascites and suspected acute abdomen in hereditary angioedema due to C1 inhibitor deficiency]. | [
"A 35-year-old man, for 8 years known to have hereditary angio-oedema with recurrent cutaneous swellings and occasional attacks of gastrointestinal pain, developed very painful, colic-like upper abdominal symptoms and frequent vomiting.",
"Routine laboratory tests were normal, except for leucocytosis of 18,200 WB... | [
"<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 35-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angio-oedema"
] | null | [
"hereditary angio-oedema",
"recurrent cutaneous swellings",
"occasional attacks of gastrointestinal pain",
"very painful, colic-like upper abdominal symptoms",
"frequent vomiting",
"about 500 ml free fluid",
"perihepatic effusion",
"definite oedematous thickening of the ileal wall",
"symptoms regres... | [
"conservative treatment with infusions and no food by mouth",
"on danazole medication (200 mg/d)",
"unnecessary laparotomy"
] | null | [
"leucocytosis of 18,200 WBC/microliter",
"The plasma concentrations of C1-esterase inhibitor (5.6 mg/dl) and of complement factor C4 (10.0 mg/dl) were reduced"
] | [
"Routine laboratory tests were normal",
"Abdominal ultrasonography was normal (no free intraabdominal fluid)"
] |
hae:9471206 | [Hereditary angioneuritoc edema with exclusive abdominal manifestation. Report of a case]. | [
"A new case of C1 inhibitor deficiency is described, pointing out the relationship between laboratory and radiological findings (increase haemoglobin and hematocrit index, and BUN) and presence of free intraperitoneal fluid (ultrasonography and radiology). In patients with this rate condition undergoing laparotomy ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A new 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 C1 inhibitor deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"acute appendicitis"
] | null | [
"presence of free intraperitoneal fluid",
"massive intraperitoneal effusion"
] | [
"laparotomy"
] | null | [
"C1 inhibitor deficiency",
"increase haemoglobin and hematocrit index, and BUN)",
"C1 inhibitor deficiency"
] | null |
hae:9191888 | Association of Sjögren's syndrome with hereditary angioneurotic edema: report of a case. | [
"A case of hereditary angioneurotic edema (HANE) associated with Sjögren's syndrome is presented. One of the members of a pedigree of HANE due to deficiency of C1 inhibitor (C1INH) had a positive titer for anti-SS-A and anti-SS-B antibodies in the serum, complaining of symptom of dry eyes and dry mouth. A lip biops... | [
"<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 edema (HANE) associated with Sjögren's syndrome\n <span style=\"font-si... | [
"hereditary angioneurotic edema (HANE) associated with Sjögren's syndrome",
"renal tubular acidosis (RTA)",
"Sjögren's syndrome with RTA"
] | null | [
"symptom of dry eyes",
"dry mouth"
] | null | null | [
"deficiency of C1 inhibitor (C1INH)",
"positive titer for anti-SS-A and anti-SS-B antibodies in the serum"
] | null |
hae:9169034 | Association of hereditary angioedema and hereditary breast cancer. | [
"A family is presented in whom hereditary angioedema (HAE) and hereditary breast cancer were coexistent, an association not previously reported. A potential for genetic and treatment-related interactions between the two conditions exists. The use of the hormonal agent danazol to suppress HAE is unlikely to adversel... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A family is presented in whom \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) and hereditary breast cancer were coexistent\n <... | [
"hereditary angioedema (HAE) and hereditary breast cancer were coexistent"
] | null | null | [
"use of the hormonal agent danazol to suppress HAE",
"Surgery, chemotherapy, and radiotherapy",
"hormonal breast cancer treatment",
"danazol"
] | null | [
"suppression of HAE"
] | [
"breast cancer",
"without triggering edema"
] |
hae:9182259 | [Melkersson-Rosenthal syndrome. Presentation of a clinical case and review of the literature]. | [
"Melkersson-Rosenthal syndrome is a rare form of hereditary angioedema characterised by a triad of symptoms of which incomplete (oligo- or monosymptomatic) forms have been described, frequently associated with dysreactive diseases or neoplasia. The authors describe the case of a 48-year-old man with an incomplete f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Melkersson-Rosenthal syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Melkersson-Rosenthal syndrome",
"hereditary angioedema",
"dysreactive diseases"
] | null | [
"triad of symptoms",
"incomplete (oligo- or monosymptomatic) forms",
"neoplasia",
"incomplete form"
] | [
"steroids"
] | null | null | null |
hae:9127378 | Hereditary angioedema: case report and review of management. | [
"The classification, pathophysiology, and treatment of angioedema is reviewed. An overview of acquired and hereditary angioedema is presented with an interesting case report that illustrates the importance of recognition and perioperative management of hereditary angioedema to prevent a potentially fatal outcome."
... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The classification, pathophysiology, and treatment of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n angioedema\n <span style=\"font-size: 0.8em; font-we... | [
"angioedema",
"acquired",
"hereditary angioedema",
"hereditary angioedema"
] | null | null | [
"perioperative management"
] | null | null | null |
hae:9104539 | Acyclovir therapy for angioedema and chronic urticaria. | [
"Angioedema and chronic urticaria result from a variety of causes. Our purpose was to study the therapeutic effect of oral acyclovir on selected patients, by observing the effect of acyclovir in a dosage of from 100 mg every six hours to 800 mg every four hours in fourteen patients with angioedema or chronic urtica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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",
"chronic urticaria",
"angioedema",
"chronic urticaria",
"chronic urticaria",
"hereditary angioedema",
"idiopathic angioedema"
] | null | [
"complete remission",
"reappearance of the hives"
] | [
"oral acyclovir",
"acyclovir in a dosage of from 100 mg every six hours to 800 mg every four hours",
"acyclovir therapy",
"Discontinuation of the acyclovir",
"acyclovir"
] | null | [
"high antibody titers to either herpes simplex virus or Epstein-Barr virus",
"suppressing a circulating viral antigen"
] | null |
hae:9452682 | Preoperative prophylaxis for C1 esterase-inhibitor deficiency in patients undergoing oral surgery: a report of three cases. | [
"C1-inhibitor deficiency, or hereditary angioedema, is a genetic disorder characterized by recurrent circumscribed, nonpruritic, nonpitting subepithelial edema. Minor trauma to the tissue, such as tooth extraction, can trigger life-threatening laryngeal edema. The use of fresh frozen plasma and/or danazol before tr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n C1-inhibitor deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"hereditary angioedema"
] | [
"genetic disorder"
] | [
"recurrent circumscribed, nonpruritic, nonpitting subepithelial edema",
"Minor trauma to the tissue",
"life-threatening laryngeal edema",
"angioedema attacks"
] | [
"tooth extraction",
"use of fresh frozen plasma and/or danazol before treatment"
] | null | [
"C1-inhibitor deficiency",
"C1-inhibitor deficiency"
] | null |
hae:9155680 | Hashimoto's thyroiditis associated with urticaria and angio-oedema: disappearance of cutaneous and mucosal manifestations after thyroidectomy. | [
"A 60 year old woman affected by Hashimoto's thyroiditis presented with a history of recurring episodes of urticaria and angio-oedema. Clinical and laboratory evaluation of the patient excluded allergy to external agents, hereditary angio-oedema, and occult infections. A pathogenic relation between Hashimoto's thyr... | [
"<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 60 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Hashimoto's thyroiditis",
"Hashimoto's thyroiditis",
"chronic urticaria/angio-oedema"
] | null | [
"recurring episodes of urticaria",
"angio-oedema",
"Urticaria and angio-oedema completely remitted"
] | [
"repeated administration of steroids",
"total thyroidectomy",
"surgery"
] | null | [
"unusual abnormalities"
] | [
"excluded allergy to external agents",
"hereditary angio-oedema",
"occult infections",
"treatment with L-thyroxine had no influence on the frequency and severity of the cutaneous and mucosal manifestations",
"asymptomatic"
] |
hae:9310729 | Autoimmune C1 inhibitor deficiency and angioedema. | [
"C1 inhibitor (C1-INH) deficiency results in bouts of mucocutaneous edema and may be inherited (hereditary angioedema) or acquired (acquired angioedema). The syndrome of acquired angioedema, characterized by the adult onset of angioedema and by the lack of evidence of inheritance of the disease, may be associated 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 C1 inhibitor (C1-INH) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"hereditary angioedema)",
"acquired angioedema)",
"acquired angioedema",
"lymphoproliferative or other malignant diseases",
"type I)",
"type II)"
] | [
"inherited"
] | [
"bouts of mucocutaneous edema",
"angioedema",
"angioedema",
"angioedema",
"hypotension",
"abdominal discomfort",
"resolution of the acute attacks",
"decrease the frequency and the severity of the symptoms",
"long symptom-free time"
] | [
"high doses of tranexamic acid"
] | null | [
"C1 inhibitor (C1-INH) deficiency",
"autoantibodies to C1-INH",
"C1-INH deficiency",
"acquired C1-INH deficiency",
"complement abnormalities",
"autoantibodies against C1-INH",
"observed",
"autoimmune C1-INH deficiency"
] | [
"lack of evidence of inheritance of the disease"
] |
hae:8945491 | Long-term treatment of C1 inhibitor deficiency with epsilon-aminocaproic acid in two patients. | [
"Most patients who have hereditary angioedema receive treatment with androgens or impeded androgens. epsilon-Aminocaproic acid (EACA) is another treatment for C1 inhibitor deficiency. In two patients with angioedema and attacks of abdominal pain due to C1 inhibitor deficiency, long-term treatment with EACA (for mor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Most patients who have \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",
"angioedema",
"definite hereditary angioedema",
"probable hereditary angioedema"
] | null | [
"attacks of abdominal pain",
"substantial decrease in the frequency and severity of episodes"
] | [
"treatment with androgens or impeded androgens",
"epsilon-Aminocaproic acid (EACA)",
"long-term treatment with EACA (for more than 2 decades",
"EACA therapy"
] | null | [
"C1 inhibitor deficiency",
"C1 inhibitor deficiency"
] | [
"family history was negative for the disease",
"no major side effects"
] |
hae:8833894 | Antibody to C1-inhibitor in a patient receiving C1-inhibitor infusions for treatment of hereditary angioneurotic edema with systemic lupus erythematosus reacts with a normal allotype of residue 458 of C1-inhibitor. | [
"Patients with hereditary C4 deficiency are likely to have severe lupus erythematosus. A patient with hereditary angioneurotic edema (HANE) and systemic lupus erythematosus (SLE) had a chronic deficiency in C4 because the hereditary deficiency in C1-inhibitor allowed the C1 in her serum to become activated and then... | [
"<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 C4 deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"severe lupus erythematosus",
"hereditary angioneurotic edema (HANE)",
"systemic lupus erythematosus (SLE)",
"remissions of both HANE and SLE"
] | [
"heterozygous for this autosomal dominant trait",
"normal allotype (VAL or MET 458)",
"she can produce only one allotype (MET 458)",
"to be homozygous for 458-VAL",
"homozygote for MET-458"
] | null | [
"giving infusions of human C1-inhibitor",
"subsequent treatment with danazol alone"
] | null | [
"hereditary C4 deficiency",
"chronic deficiency in C4",
"hereditary deficiency in C1-inhibitor allowed the C1 in her serum to become activated and then inactivate C4",
"C4 deficiency",
"deficiency in C1-inhibitor",
"antibody to C1-inhibitor developed",
"measurable C1-inhibitor developed in the patient's... | [
"the infusions were stopped",
"levels of C4 were never significantly increased",
"Antibody to normal C1-inhibitor was not expected to develop"
] |
hae:8792821 | A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema. | [
"The polymerase chain reaction and nucleotide sequence analysis have been used to characterize a point mutation in the seventh exon of one allele of the C1-inhibitor gene in a family with type I hereditary angioedema. A single base change (C-->T) at nucleotide 1482 in C1-inhibitor converted the codon for Gln-339 to... | [
"<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 polymerase chain reaction and nucleotide sequence analysis\n <span style=\"font-size: 0.8em; font-weig... | [
"type I hereditary angioedema"
] | [
"point mutation in the seventh exon of one allele of the C1-inhibitor gene",
"single base change (C-->T) at nucleotide 1482 in C1-inhibitor converted the codon for Gln-339 to a premature translation termination codon, TAG"
] | null | null | null | null | null |
hae:8753851 | Colorectal intussusception: an unusual gastrointestinal complication of hereditary angioedema. | [
"A 21-year-old man with a history of hereditary angioedema presented with protracted abdominal pain which failed to respond to infusion of C1 inhibitor concentrate. Evaluation by CT scan revealed extensive colorectal intussusception requiring surgical intervention. Under replacement therapy with C1 inhibitor concen... | [
"<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 21-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"protracted abdominal pain",
"extensive colorectal intussusception",
"initiation of intussusception by local mucosal edema in the transverse colon"
] | [
"surgical intervention",
"replacement therapy with C1 inhibitor concentrate",
"operation under general anesthesia",
"uneventful"
] | null | null | [
"failed to respond to infusion of C1 inhibitor concentrate"
] |
hae:8829070 | Fresh frozen plasma prophylaxis for hereditary angioedema during pregnancy. A case report. | [
"Hereditary angioedema (HAE) is an uncommon disorder of the complement system due to a deficiency or dysfunction of the inhibitor of the first component of complement (C1 INH). Clinically, HAE is characterized by episodic abdominal pain or edema of the extremities, face, larynx and vulva. Laryngeal edema is potenti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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)",
"uncommon disorder of the complement system",
"HAE",
"hereditary angioedema"
] | null | [
"episodic abdominal pain",
"edema of the extremities, face, larynx and vulva",
"Laryngeal edema",
"multiple episodes of abdominal pain",
"swelling of abdomen and extremities",
"teratogenic effects",
"reduction in the number and severity of attacks"
] | [
"short-term (fresh frozen plasma) and long-term (antifibrinolytic agents, hormonal therapy) prophylaxis",
"acute treatment (epinephrine, steroids, antihistamines)",
"Fresh frozen plasma given twice weekly over 2.5 months",
"successful completion of pregnancy",
"fresh frozen plasma therapy as a means of long... | null | [
"deficiency or dysfunction of the inhibitor of the first component of complement (C1 INH)",
"decreased levels of C1 INH and complement component 4"
] | [
"Standard prophylactic methods were contraindicated",
"the standard agents (antifibrinolytic, hormone) are unsuccessful or contraindicated"
] |
hae:8765863 | [The use of a C1-inhibior concentrate for short-term preoperative prophylaxis in two patients with hereditary angioedema]. | [
"A commercially available C1 inhibitor (C1-INH) concentrate was used for short-term prophylaxis before surgery in two patients with hereditary angioneurotic oedema. The patients suffered from recurrent subcutaneous and submucosal oedema of the face, extremities, and gastrointestinal tract as the result of a heredit... | [
"<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 commercially available C1 inhibitor (C1-INH) concentrate\n <span style=\"font-size: 0.8em; font-weight: ... | [
"hereditary angioneurotic oedema",
"hereditary angioneurotic oedema"
] | null | [
"recurrent subcutaneous and submucosal oedema of the face, extremities, and gastrointestinal tract",
"of infection"
] | [
"commercially available C1 inhibitor (C1-INH) concentrate",
"for short-term prophylaxis before surgery",
"receiving tranexamic acid or danazol therapy as oral long-term prophylaxis",
"several operations in regional and general anaesthesia",
"mask ventilation or intubation",
"Substitution treatment with 50... | null | [
"hereditary C1-INH deficiency",
"The C1-INH plasma concentrations measured preoperatively were always very low (0.02-0.06 g/l, normal range 0.15-0.35 g/l)",
"measurement of C1-INH plasma concentration 2 h or 4 h after C1-INH substitution showed a marked rise"
] | [
"despite the oral long-term prophylaxis",
"No side effects were seen following the concentrate infusions",
"no specific symptoms of hereditary angioneurotic oedema",
"normal values were not reached"
] |
hae:8668968 | [Skin and hair]. | [
"Data deriving from comprehensive hospital monitoring systems suggest that drug-induced skin effects occur in 2-5% of patients receiving any drug medication. Exanthematous (maculopapular) reaction (75%) and urticaria with/without angioedema (30%) are the most frequent of all cutaneous reactions to drugs. The incide... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Data deriving from comprehensive hospital monitoring systems suggest that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n drug-induced skin effects\n <spa... | [
"allergic (type I to IV) or non-allergic reactions",
"infectious mononucleosis",
"AIDS",
"toxic epidermal necrolysis",
"AIDS",
"sulfonamides",
"toxic epidermal necrolysis",
"type 1 hypersensitivity reactions"
] | [
"Hereditary and acquired enzyme deficiency",
"variations in metabolic pathway"
] | [
"drug-induced skin effects",
"Exanthematous (maculopapular) reaction",
"urticaria with/without angioedema",
"cutaneous reactions to drugs",
"cutaneous reactions",
"penicillin",
"cutaneous side effects",
"Drug reactions",
"chemotherapy-induced alopecia",
"Unpredictable side effects of drugs",
"no... | [
"drug medication",
"sulfonamides",
"nonsteroidal antiinflammatory drugs",
"hydralazine, INH or sulfonamide treatment",
"ampicillin medication",
"co-trimoxazole therapy",
"withdrawal of the drug"
] | null | [
"delay drug metabolism",
"low acetylation rate"
] | [
"immunologic although nonallergic factors",
"no alternative therapy is available"
] |
hae:8733381 | Hereditary angioedema caused by a point mutation of exon 7 in the C1 inhibitor gene. | [
"Hereditary angioedema (HAE) is a genetic disease which may be detected serologically. We present a patient with HAE, in whom we examined the gene defect using the polymerase chain reaction. The patient presented with recurrent episodes of abdominal pain, or non-itchy swellings of the hands, feet, and penis. The se... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"type I HAE"
] | [
"genetic disease",
"single base change (C-->T) at nucleotide 1482 in the seventh exon was present in the C1-INH gene",
"mutation converted the codon for the Gln-339 to a premature translation termination codon TAG",
"point mutation in the C1-INH gene"
] | [
"recurrent episodes of abdominal pain",
"non-itchy swellings of the hands, feet, and penis"
] | null | null | [
"serum levels of C1 inhibitor (C1-INH) and C4 were below normal"
] | null |
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