Olgu sunumu: Tekrarlayan anjiyoodemin nadir nedeni: herediter anjiyoodem Case report: hereditary angioedema: a rare cause of recurrent angioedema

Abstract

Hereditary Angioedema: A Rare Cause of Recurrent Angioedema Hereditary angioedema (HA) is a rare, autosomal-dominant genetic disorder presenting with recurrent attacks of angioedema which develop secondary deficiency of CI inhibitors or related dysfunction. Men and women are equally affected. The prevalence of HA is predicted to be 1 per 50,000 to 150,000 in the general population. The most commonly involved organs include the extremites, face, neck, upper respiratory tract, genital region and the gastrointestinal tract. There are 3 types of HAE. Type I HA is defined by low plasma levels of a normal C1-INH protein. Type II HA is characterized by the presence of normal or elevated levels of a dysfunctional C1-INH. Type III HA has been recently identified as an estrogen-dependent inherited form of angioedema occurring mainly in women. Herein, a 6-year-old boy who presented with recurrent episodes of angioedema and abdominal pain and diagnosed with type II HA is reported. It is important to highlight the measurement of C1INH function in patients with suspect but with normal C1INH levels.