Clinical And C1 Inhibitor Gene Mutations For Hereditary Angioedema

Background: C1 esterase inhibitor (C1 INH) is a serine protease inhibitor (serpin) and its major role is to control the activation of the complement, coagulation, fibrinolytic and the kallikren- kinin system. So, it is very important to implement a research in theory. Cl inhibitor deficiency, namely hereditary angioedema, is a rare autosomal dominant disease. Estimation of its worldwide incidence shows a range from 1 in 10000 to 1 in 150000. It manifests as recurrent attacks of cutaneous and subcutaneous edema. Abdominal viscera and airway can be involved. Patients can die from obstruction resulting from airway swelling. Therefore it is also a great worthiness to study it in practical. HAE is seriously considerate in foreign countries. In early 1980s, professor Ye-shitai visited allergy institute of NIH and found that HAE has been scheduled one of the three major research subjects. In early 1990s, professor Zhang-hongyu visited Japan and found that the number of scientists engaged in HAE research were more than patients with HAE. From 1888 to 1978, the total number of HAE patients reported was only 500 in the world. We began to study HAE from 1981. Up to now, we have diagnosed more than 200 patients from 50 families and have accumulated a lot of clinical data. No single patient died from the asphyxiation resulting from airway edema since danazol was used for long-term prophylaxis.Objective: To analyze the characteristic of clinical manifestation of patients with HAE...