Hereditary Angioedema: Report from 62 Cases

Abstract

Hereditary angioedema (HAE) is characterized by deficiency of the C1 esterase inhibitor. This protein controls the activation of complement and also the process of coagulation, fibrinolysis, and bradykinin pathway. It is characterized by attacks of angioedema affecting the subcutaneous tissue, the respiratory and gastrointestinal tracts. The frequency of HAE is estimated in 1 in 10,000 or 50,000 and respiratory involvement is fatal in 25–40% of untreated cases. We collected data of 62 patients followed at the ADEE-3003. There was female predominance (42/62), with wide variation in age (8–70 years), symptom onset in childhood and adolescence in most cases. 17% of patients had at least one episode of edema, the triggers were trauma (13/62), stress (4/62), and menstrual cycle (3/62). Family history was positive in 40/54. Quantitative defect was confirmed in all. Although there are several reports of cases of HAE in other countries, this diagnosis is rarely recognized in our country. Although the sample includes adult patients the first symptoms appear in childhood and adolescence. The family history was crucial in the investigation of immunodeficiency.