Hereditary Angioedema - Pathogenesis

Pathogenesis

The underlying cause of HAE is attributed to autosomal-dominant inheritance of mutations in C1-INH gene (SERPING1 gene), which is mapped to chromosome 11 (11q12-q13.1). More than 200 mutations of this gene have been linked to the clinical HAE manifestations.2-4 The majority of HAE patients have a family history; however, 25% are the result of new mutations.

Hereditary angioedema type III has separate pathogenesis, being caused by mutations in F12 gene coding for a serine protease called Factor XII.