Hereditary Angio-Edema (HAE)

Abstract

Hereditary Angio-Edema (HAE) is manifested by recurrent attacks of acute circumscribed edema of the extremities, face, trunk, and respiratory or abdominal tract, occurring after minor physical or emotional trauma, or spontaneously. The clinical diagnosis can be confirmed by low serum-levels of the inhibitor of the activated first component of complement (C1-INH). A family of 35 members over six generations was investigated. About 40 per cent of the members were HAE-patients. An autosomal dominant inheritance with high penetrance was present. Four patients died by suffocation from laryngeal edema. In all HAE-patients the C1-INH serum-level was diminished, and also in two children who have yet had no complaints. Adequate medical advice, including the provision of a medical alert card and the prescription of C1-INH concentrate (for short-term prophylaxis and the treatment of attacks of laryngeal edema), is necessary. In patients with frequent serious attacks, long-term prophylaxis with Danazol is indicated.