Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 7 families with hereditary angioneurotic oedema (HANE) have been found in Finland. Six HANE patients have died from laryngeal oedema, 27 patients with diagnosed HANE are alive and 21 members have a haematological abnormality typical of HANE, i.e. a deficiency of the inhibitor of the activated first component of complement (C1-INH), but no manifest symptoms. The largest family has 363 living members, 303 of whom were investigated for C1-INH, C4 and C3. Fourteen patients had HANE, 18 relatives were symptomless but had C1-INH deficiency, and 3 members of the family had died from laryngeal oedema. In two families only one case of HANE was diagnosed, the parents in both cases being symptomless with normal C1-INH levels. All patients who had died from laryngeal oedema and 10 of the 27 HANE patients still alive had a typical triad of paroxysmal abdominal pain, peripheral oedema and laryngeal oedema. Six patients have had abdominal attacks alone, three peripheral oedema alone and two only laryngeal oedema. The age at onset of symptoms was 1-51 years. Three patients, who have received continuous methyltestosterone therapy, had hardly any symptoms during the treatment. Thirteen patients have received tranexamic acid, either during an attack or continuously, with positive effects in all except two. Cinnarizine treatment was beneficial in three out of four cases, both when given continuously or during an attack.
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PMID:Hereditary angioneurotic oedema in Finland. Clinical, immunological and genealogical studies. 89 63

Angioedema is characterized by a well-demarcated swelling on the skin, oropharyngolaryngeal tissue, or the gastrointestinal wall. Underlying mechanisms may include IgE-mediated reactions, complement activation, inhibition of the cyclo-oxygenase pathway of arachidonic acid metabolism, direct release of mediators from mast cells, and activation of the kinin-forming system. Foods, drugs, inhalants, insect bites, blood transfusion, collagen vascular disease, infections, physical factors, neoplasms, and hereditary factors can cause angioedema through one or more of these mechanisms. Chronic angioedema lasts more than 6 weeks or recurs during this period. Acute angioedema is a self-limited disorder and resolves spontaneously, or with simple therapy, in several days; the patient rarely requires a complete work-up. Chronic angioedema may necessitate a detailed history, physical examination, and limited clinical or laboratory tests to exclude serious underlying illnesses. The H1 antihistamines are used for the treatment of both acute and chronic angioedema. An H2 antihistamine, a second H1 antihistamine, or rarely even a low dose of corticosteroid may be added to the regimen if H1 antihistamine alone fails to control chronic angioedema. Hereditary angioedema is an autosomal dominant disease that is caused by C1INH deficiency. In patients with this disorder, swelling of the lip, pharynx, and extremities may follow trauma to soft tissue. Other clinical manifestations include abdominal pain, nausea, vomiting, and suffocation because of laryngeal swelling. Diagnosis can be confirmed by the finding of low levels of C4 and C2 and the absence of nonfunction of C1INH. Androgens reverse the biochemical defects.
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PMID:Angioedema. 286 18

Although hereditary angioedema accounts for only a small fraction of all angioedema, it is relatively common among inherited deficiencies of plasma proteins. The occurrences of upper respiratory obstruction, of attacks following trauma, and of episodes of abdominal pain are clues to the diagnosis, and the absence of a family history is no reassurance against it. Measurement of C4 concentration is a useful screening test: Normal values exclude the diagnosis, while subnormal values mandate measurement of C1 INH by immunoassay or functional assay. The functional assay is required to detect the genetic variant form. The importance of making the diagnosis is threefold. It facilitates prevention of life-threatening complications, such as upper airway obstruction and needless abdominal surgery. It leads to use of short-term prophylactic measures to prevent complications associated with trauma. In patients with disability due to frequent attacks, suppression or elimination of all symptoms can be achieved by chronic treatment with impeded androgens.
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PMID:Hereditary angioedema. Undersuspected, underdiagnosed. 313 86

Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by recurrent edema of the oropharynx, the extremities, and by abdominal pain. This disorder is caused by a defect in the C1 esterase inhibitor (C1 INH) which inhibits the first component of complement (C1). Four generations of a family are described and laboratory data of five individuals of this family are given as these individuals presented for general otolaryngologic procedures. The mortality of acute laryngeal edema is described to vary from 6% to 54% and may necessitate a tracheotomy as a life saving measure A deficiency of IgA is also noted in this family, and to our knowledge, this is the first time this has been shown in association with HAE. Present therapy consists of long utilization of danazol, an attenuated androgen. Recently a partially purified C1 INH has been reported for acute episodes of HAE, and preliminary results are promising.
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PMID:Hereditary angioedema: association with IgA deficiency and otolaryngologic disorders. 746 2

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 are frequent), should always let think of a HAE. Additionally in one female patient we found pleural effusion repeatedly during the episodes. HAE typically shows segments of GI-tract with a marked wall thickening. In our patients stomach (2 x), small bowel (2 x) and colon (1 x) were involved. Obstruction of the lumen by the edema may cause vomiting or ileus. By means of high-resolution sonography we could show for the first time that only mucosal and submucosal layer were affected, the L. muscularis propria was preserved. Characteristic was a hypoechoic thickening of the interior layers of the wall: In one patient we found anechoic lacunae within the mucosal layer, probably corresponding to a bullous edema. An accurate ultrasonic examination enables a reliable judgement of the severity level of HAE. It can contribute in this way to the decision whether the application of C1-INH-concentrate is necessary or not.
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PMID:[Sonography in hereditary angioedema: typical findings demonstrated by the example of 3 cases]. 1152 98

We encountered two cases of C1 inhibitor deficiency (26-year-old man and 29-year-old woman). They had been suffering from paroxysmal abdominal pain for many years. Imaging studies showed wall thickening of the intestine and ascites and diagnosis was difficult. Decreased serum levels of C4 and C1INH activity indicated a diagnosis of C1INH deficiency. Although C1INH deficiency is rare, it should be considered as a differential diagnosis in young patients with paroxysmal abdominal pain.
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PMID:[Two cases of C1INH deficiency with paroxysmal abdominal pain]. 1754 46

Angioedema due to an acquired deficiency in the inhibitor of the first component of human complement (CI-INH) is a rare syndrome that is usually identified as acquired angioedema (AAE). The clinical features of C1-INH deficiency, which may also be of genetic origin (hereditary angioedema, HAE), include subcutaneous, non-pruritic swelling, involvement of the upper respiratory tract, and abdominal pain due to partial obstruction of the gastrointestinal tract. Unlike those with HAE, AAE patients have no family history of angioedema and are characterised by the late onset of symptoms and various responses to treatment due to the hypercatabolism of C1-INH. The reduction in C1-INH function leads to activation of the classical complement pathway and complement consumption, as well as activation of the contact system leading to the generation of the vasoactive peptide bradykinin, increased vascular permeability, and angioedema. AAE is frequently associated with lymphoproliferative diseases ranging from monoclonal gammopathies of uncertain significance (MGUS) to non-Hodgkin's lymphoma (NHL) and/or anti-C1-INH inactivating autoantibodies. The coexistence of true B cell malignancy, non-malignant B cell proliferation and pathogenic autoimmune responses suggests that AAE patients are all affected by altered B cell proliferation control although their clinical evolution may vary.
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PMID:Angioedema due to acquired C1-inhibitor deficiency: a bridging condition between autoimmunity and lymphoproliferation. 1901 72

A 44-year-old Japanese woman was diagnosed with type 1 hereditary angioedema (HAE) at the age of 30. In March 2007, she began suffering from severe abdominal pain due to intestinal edema. After treatment with C1-INH concentrate, her symptoms disappeared. However, during the subsequent three years, the frequency of the attacks increased continuously, and C1-INH concentrate was necessary for treatment of every attack. The increase in the number of attacks might have been due to the frequent injection of C1-INH concentrate or the deterioration of her disease course. In a genetic investigation, the patient was found to have a novel mutation in the C1-INH gene.
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PMID:A case of hereditary angioedema involving recurrent abdominal attacks. 2212 7

We report on an angioedema patient with a genetic defect in complement 1 inhibitor, manifesting migraine-like episodes of headache, effective prophylaxis with Danazol, and triptan for a treatment of acute clinical episode. The patient was 44-yr-old Korean man with abdominal pain and headache, who was brought into the Emergency Department of Seoul National University Hospital, Seoul. He suffered from frequent attacks of migraine-like headache (3-7 per month), pulsating in nature associated with nausea. Severities were aggravated by activity and his headache had shown recent progression with abdominal pain. No remarkable findings were observed on radiologic examination, brain magnetic resonance images and intracranial and extracranial magnetic resonance angiography. Danazol 200 mg every other day was subsequently used. Following administration of Danazol, symptoms showed improvement and the patient was discharged. While taking Danazol, the migraine-like episodes appeared to be prevented for about 2 yr. At the eighth month, he suffered a moderate degree of migraine-like headache; however, administration of naratriptan 2.5 mg resolved his problem. A case of genetic defect of C1-INH deficiency presented with headache episodes, and was controlled by Danazol and triptan. It suggests that pathogenic mechanism of headache in hereditary angioedema may be mediated by the neurogenic inflammatory-like physiology of migraine.
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PMID:Migraine-like headache in a patient with complement 1 inhibitor deficient hereditary angioedema. 2221 24

Hereditary angio-oedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare inherited disorder characterised by recurring and debilitating episodes of cutaneous swelling and abdominal pain and less frequent episodes of laryngeal oedema. Symptom onset is usually in childhood and early adolescence, with earlier disease onset associated with greater disease severity. Although HAE-C1-INH attacks are generally less frequent and less severe in children than in adults, they can cause significant physical and psychological impairment and affect advancement in school. There are often significant delays in the diagnosis of HAE-C1-INH due to its variable clinical presentation and because abdominal symptoms can often mimic other common paediatric gastrointestinal disorders. In recent years, several disease-specific agents have become available for the acute and prophylactic treatment of HAE-C1-INH. Although these treatments have not been evaluated rigorously in controlled clinical trials in children with HAE-C1-INH, paediatric data on efficacy and safety are available for some agents. Early diagnosis and initiation of appropriate therapy in children with HAE-C1-INH can help reduce the burden of this illness in the paediatric population.
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PMID:Angio-oedema due to hereditary C1 inhibitor deficiency in children. 2241 38


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