Hereditary angio-oedema

Lancet. 2012 Feb 4;379(9814):474-81. doi: 10.1016/S0140-6736(11)60935-5.

Abstract

Hereditary angio-oedema is caused by a heterozygous deficiency of C1 inhibitor. This inhibitor regulates several inflammatory pathways, and patients with hereditary angio-oedema have intermittent cutaneous or mucosal swellings because of a failure to control local production of bradykinin. Swellings typically evolve in several hours and persist for a few days. In addition to orofacial angio-oedema, painless swellings affect peripheries, which causes disfigurement or interference with work and other activities of daily living. Angio-oedema affecting the gastrointestinal tract or abdominal viscera causes severe pain often with vomiting due to oedematous bowel obstruction. About 2% of swellings involve the larynx and can be fatal if untreated. About 50% of patients have laryngeal swellings that are potentially fatal despite prophylaxis. In this Seminar we review the clinical features, diagnosis, and management of hereditary angio-oedema, with specific emphasis on the new treatments available for acute swellings.

Publication types

  • Review

MeSH terms

  • Angioedemas, Hereditary* / diagnosis
  • Angioedemas, Hereditary* / physiopathology
  • Angioedemas, Hereditary* / prevention & control
  • Angioedemas, Hereditary* / therapy
  • Diagnosis, Differential
  • Humans