Hereditary pediatric angioedema

Abstract

Introduction: The hereditary angioedema is a rare genetical disease caused by deficiency of C1 esterase inhibitor (C1-INH). The diagnosis is difficult because the low prevalence f it.
Clinical report: We show a female with recurrent episodes of edema in extremities since 3 years old, with dysphagia and voice change since puberty. Her mother and brother had similar manifestations. All they were diagnosed of hereditary angioedema with C1-INH deficiency.
Conclusions: The hereditary angioedema is a rare and potential severe disease. Its manifestations may be similar to the allergy or anaphylaxis, but its treatment is different. Emergency therapy of acute oedematous attacks with C1-INH is the most appropriate therapy, but in severe or very frequent cases, long term prophylaxis may be recommended. This article provides an overview of the diagnosis and the treatment in hereditary angioedema.