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 case of C1 inhibitor deficiency presenting as localized edema of the small intestine is described. A 16-year-old, previously healthy woman presented with recurrent attacks of abdominal pain and vomiting following minor abdominal trauma. Investigations including computed tomography scan and barium studies confirmed localized edema of the jejunum. At laparoscopy, Crohn's disease was suspected; however, a subsequent enteroscopy was normal. Complement levels revealed a low C4 level, and C1 inhibitor deficiency was later confirmed. Attacks of abdominal pain began after starting oral contraceptives and have not returned since stopping the birth control pill. This rare cause of abdominal pain is examined, and C1 inhibitor deficiency and angioedema are reviewed.
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PMID:C1 inhibitor deficiency and angioedema of the small intestine masquerading as Crohn's disease. 1079 90

Hereditary angioedema (HAE) is an autosomal dominant disease that afflicts 1 in 10,000 to 1 in 150,000 persons; HAE has been reported in all races, and no sex predominance has been found. It manifests as recurrent attacks of intense, massive, localized edema without concomitant pruritus, often resulting from one of several known triggers. However, attacks can occur in the absence of any identifiable initiating event. Historically, 2 types of HAE have been described. However, a variant, possibly X-linked, inherited angioedema has recently been described, and tentatively it has been named "type 3" HAE. Signs and symptoms are identical in all types of HAE. Skin and visceral organs may be involved by the typically massive local edema. The most commonly involved viscera are the respiratory and gastrointestinal systems. Involvement of the upper airways can result in severe life-threatening symptoms, including the risk of asphyxiation, unless appropriate interventions are taken. Quantitative and functional analyses of C1 esterase inhibitor and complement components C4 and C1q should be performed when HAE is suspected. Acute exacerbations of the disease should be treated with intravenous purified C1 esterase inhibitor concentrate, where available. Intravenous administration of fresh frozen plasma is also useful in acute HAE; however, it occasionally exacerbates symptoms. Corticosteroids, antihistamines, and epinephrine can be useful adjuncts but typically are not efficacious in aborting acute attacks. Prophylactic management involves long-term use of attenuated androgens or antifibrinolytic agents. Clinicians should keep this disorder in their differential diagnosis of unexplained, episodic cutaneous angioedema or abdominal pain.
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PMID:Hereditary angioedema: a broad review for clinicians. 1237 28

Hereditary angioedema (HAE) is a relatively rare genetic disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Common clinical presentations are abdominal pain and localized edema of the skin, with laryngeal edema being potentially life-threatening. Replacement therapy with C1-INH concentrate is recommended for treatment of acute HAE attacks and results in rapid resolution of symptoms. C1-INH concentrate can also be used for prophylaxis of HAE and is recommended in cases where standard prophylactic agents are ineffective or not tolerated. This case study describes the use of C1-INH concentrate as a home therapy for on-demand and prophylactic self-administration in a patient with HAE. This treatment approach was well tolerated and effective, leading to a dramatic improvement in symptoms and improved quality of life.
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PMID:Long-term prophylaxis of hereditary angioedema with a pasteurized C1 inhibitor concentrate. 2097 89