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Patients & Consumers Conditions En Español Find an Allergist / Immunologist Just for Kids New Research Parent Resources Pollen Levels Publications Real Life Stories Request a Speaker School Tools Seniors The Virtual Allergist™ Treatments Search by Condition (A-Z) Search by Topic Allergy & Asthma Issues Educational Brochures Elements of Allergy and Asthma Order Public Education Materials Washington Post Supplement Allergy Shots Drug Guide Sublingual Immunotherapy (SLIT)		SELECTED ARTICLES FROM THE RECENT LITERATURE 2008 November 5, 2007 Hereditary angioedema type 3 now found in men Summary Sporadic cases of familial angioedema without abnormalities in C1 inhibitor have been periodically reported in the literature. One of these reports, in which only women were subject, has been called hereditary angioedema type 3. In this group of patients, a missense mutation in F12 that encodes for Hageman factor protease was found. This mutation results in an increase in Hageman factor protease in plasma with resultant enhanced kinin production and therefore increased vascular permeability and edema. Editor's Comments This report noted a family in which the same genetic defect was present, but in which men, as well as women, were affected. Thus the diagnosis of hereditary angioedema type 3, as proposed by the authors, can no longer be restricted to women. Reference Martin L, et al. Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation on the F12 gene. J Allergy Clin Immunol, October 2007; 120(4):975-977.   BACK
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