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.
2012-02-06
Eng.
Lancet
Department of Immunology, Barts and The London National Health Service Trust, Whitechapel, London, UK. hilary.longhurst [at] bartsandthelondon.nhs.uk
Lancet. 2012 Feb;379(9814):474-81
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