Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.
Hereditary angioedema (HAE) is a debilitating disease characterized by sudden attacks of brawny, nonpitting, and often painful edema.1 The extremities, genitalia, trunk, bowels, face, and larynx are commonly affected. Among untreated patients, death from asphyxiation during laryngeal attacks has been reported in as many as 30% of cases,2 and the possibility of asphyxiation from a first laryngeal attack is cause for concern. However, awareness of symptoms and effective interventions among physicians, patients, and families will reduce the risk of life-threatening crises.