Novel Heterozygous variant of the SERPING1 gene associated with hereditary angioedema in an Italian family based in Australia

Hereditary angioedema (HAE) is a relatively uncommon condition, affecting estimated 1 in 50,000 people and presents with potentially life threatening angioedema involving mucosal and/or cutaneous surfaces [1-3]. We describe a case of a newly identified a likely pathogenic heterozygous variant of Leu197Pro Serping 1 of the SERPING1 gene associated with hereditary angioedema in an Italian family based in Australia.