851 Hereditary Angioedema and Long-Term Prophylaxis

Abstract

Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of angioedema caused by a quantitative or functional defect of the plasma protein C1 esterase inhibitor (C1 INH). Treatment is divided into short and longterm prophylaxis with androgens, antifibrinolytics and C1 inhibitor replacement.We present the clinical characteristics of three female patients, two of them members of the same family and one isolated case. Eleven year old and 5 year old sisters were admitted to our hospital with complaints of relapsing skin swelling. In the second patient abdominal pain attacks were also developed. The third patient, a 13 year old girl was suffered from recurrent bouts of swelling most often affecting extremities and genitalia since 7 year old. We analyzed blood levels of C3, C4, and C1 INH. Both of the sisters had decreased serum levels of C4 and C1 INH and were diagnosed as hereditary angioedema type I. The third patient had reduced serum levels of C4 and normal C1 INH and the genetic analysis on the C1INH gene showed a mutation of aa 444 Arg substituted by Cis consistent with type II hereditary angioedema. All the patients were started on tranexamic acid for long term prophylaxis but in the first and second patients the treatment had to change with danazol due to the lack of enough response to the tranexamic acid. The third patient presented occasional (1-2 mild episodes per year) peripheral angioedema and her disease was controlled with tranexamic acid.