Hereditary angioedema

Abstract

Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of angioedema which can cause fatal laryngeal oedema and features mimicking gastrointestinal tract obstruction. Attacks are usually precipitated by trauma, stress, hormonal therapy and ACE inhibitors. The diagnosis is confirmed by the presence of a low serum C4 and reduced C1 inhibitor level or function. Attenuated androgens and tranexamic acid are used for the prophylactic treatment of the disease. C1 inhibitor concentrate infusion is the treatment of choice for acute attacks. There are new products in trial, including genetically engineered C1 esterase inhibitor, kallikrein inhibitor and bradykinin B2 receptor antagonist.