Hereditary angio-oedema.
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.
Department of Immunology, Barts and The London National Health Service Trust, Whitechapel, London, UK. hilary.longhurst@bartsandthelondon.nhs.uk
Hilary
H
Longhurst
Marco
M
Cicardi
D054179:Angioedemas, Hereditary / Q000175:diagnosis / Q000503:physiopathology / Q000517:prevention & control / Q000628:therapy; D003937:Diagnosis, Differential; D006801:Humans