Angioedema hereditário: uma doença subdiagnosticada

Abstract

Hereditary angioedema is an autosomal dominant disorder with a prevalence of 1: 10.000-50.000 people, relatively rare, due to genetic mutations that determine qualitative or quantitative deficiency of C1 esterase inhibitor (C1-INH). The causes and pathophysiological mechanisms of angioedema are diverse, existing acquired forms and, more rarely, hereditary. The low concentration of C1-INH results in disordered of various systems such as complement, kinin and coagulation with the formation of vasoactive substances. The sites most affected are the face, extremities, genitals, oropharynx, larynx and system digestivo. Drug treatment can be divided into three categories: long-term prevention, short-term treatment and prevention of crises. This study aims to determine the importance of early diagnosis by health professionals based on the clinical picture, family history and complement the study, whereas the Hereditary Angioedema is potentially fatal and requires specific therapy. Keywords: Hereditary angioedema; C1 esterase inhibitor; Treatment of hereditary angioedema; Ecallantide