A case of hereditary angioedema

Abstract

We reported a rare case of hereditary angioedema complicated by laryngeal edema. A 35-year-old man with history of repetitive paroxysmal facial edema complained of acute dyspnea. The patient manifested pronounced facial and laryngeal edema. He underwent urgent tracheostomy with corticosteroid administration, and the edema promptly subsided. A diagnosis of hereditary angioedmea was made from low levels of serum C4 and C1 inhibitor activity, and confirmed by the detection of a point mutation of the SERPING1 gene, which encodes CI inhibitor. He has been receiving prophylactic administration of tranexamic acid, and free from disease during a 24-month follow-up period. Etiology, clinical characteristics, diagnosis and treatment of hereditary angioedema were reviewed bibliographically.