SERPING1 and F12 combined variants in a hereditary angioedema family,,✰✰✰,✰✰✰✰

Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by recurrent swellings of the cutaneous and mucosal tissues. Associated complications include potentially life-threatening swellings, involving the tongue, pharynx and larynx. The well-known form of HAE is caused by autosomal dominant variants in the SERPING1 gene affecting an estimated 1 in 50,000 individuals in Europe (MIM #106100).1,2 These lead to a C1 Inhibitor (C1Inh) functional deficiency, resulting in uncontrolled activation of kallikrein-kinin system and high bradykinin formation, with a subsequent increase in vascular permeability causing angioedema.

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