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[Hereditary angioedema]

Laura J Bouchard1, Heli Hyry, Seppo Meri

  • 1Helsingin yliopisto, Haartman-instituutti, bakteriologian ja immunologian osasto.

Duodecim; Laaketieteellinen Aikakauskirja
|February 12, 2013
PubMed

Hereditary angioedema (HAE) is a rare autosomal dominant disease characterized by episodic swelling of the face, extremities, larynx, gastrointestinal tract or genitals. Three different subtypes have been identified so far. Type I and II HAE are caused by mutations in the C1 inhibitor gene leading to decreased or dysfunctional C1 inhibitor, respectively. Type III is caused by a mutation in the coagulation factor XII. In addition, acquired forms or forms with no known etiology exist. Increased bradykinin production leading to increased vessel permeability is common to all HAE types. Treatment of HAE has evolved dramatically during the last years as self-administration of C1 inhibitor concentrate and bradykinin-2 receptor antagonist icatibant have become available.

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