Hereditary Angioedema

Abstract

Hereditary angioedema (HAE) is an autosomal dominantly inherited orphan disease manifested by recurrent unpredictable nonpiting and nonpruritic swelling atacks without urticarial plaques. HAE is caused by a deiciency of the C1 esterase inhibitor (C1-inh) or decreased function of C1-inh. Type 1 HAE, the most common form, occurs due to C1-inh deiciency and is seen with low-serum C1-inh levels. In type 2 HAE, the function of C1-inh is impaired, and in HAE with normal C1-inh serum levels, the function of C1-inh is normal. HAE episodes can afect various sites in the body such as the larynx, face, extremities, gastrointestinal tract, and urogenital area. Acute episodes can be treated with C1-inh concentrates, a kallikrein inhibitor, called ecallantide and bradykinin B2 receptor antagonist, icatibant. Depending on the frequency, severity, and location of the episodes, long-term prophylaxis regimens with plasma-derived C1-inh concentrates, antiibrinolytics, or 17α-alkylated androgens can be used. C1-inh concentrates or 17α-alkylated androgens should be administered before dental procedures and minor or major surgical interventions to provide short-term prophylaxis. In conclusion, HAE is a rare life-threatening disease of which clinical presentation is highly variable and early accurate diagnosis signiicantly prevents mortality and morbidity.