Hereditary angioedema (HAE [MIM #106100]) is an autosomal dominant condition characterized by recurrent swellings of the skin, the gastrointestinal and laryngeal tract and the inner organs. Frequent complications are potentially life-threatening swellings of tongue, pharynx and larynx that can result in asphyxiation if not treated. The most common forms of HAE with C1 inhibitor deficiency are caused by mutations in the SERPING1 gene.(1) They lead to functional deficiency of C1-INH resulting in excessive contact system-mediated formation of the peptide bradykinin which increases vascular permeability thereby leading to angioedema.(2) This article is protected by copyright. All rights reserved.
