Hereditary angioedema

A genetic form of angioedema. (Angioedema is also referred to as Quinke’s disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic edema.

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an autosomal dominant disorder manifested as recurrent episodes of edema of the skin, upper respiratory tract, and gastrointestinal tract with increased levels of several vasoactive mediators of anaphylaxis; it may result in life-threatening laryngeal edema. Although precipitating events are often unidentifiable, factors such as minor trauma, sudden changes in environmental temperature, and sudden emotional stress can initiate attacks. There are three types: two are clinically indistinguishable and are caused by mutations in the C1NH gene (locus: 11q11-q13.1), while the third is caused by mutation in the F12 gene (locus: 5q33-qter), which encodes factor XII.