Hereditary angioedema with normal C1-INH (HAE-nC1-INH) is a rare genetic disease with similar phenotype to HAE-C1-INH, but different genetic background. Currently six subtypes are recognized, based on the underlying mutations.
The objective of this study is to assess clinical features of patients with genetically characterized HAE-nC1-INH, from the North of Portugal. To achieve this retrospective assessment of clinical data from all patients with HAE-nC1-INH followed at a Hereditary Angioedema (HAE) Reference Center is performed.
Forty-one patients are identified, four with no family history. The FXII-mutation Thr328Lys (38 carriers) is the most prevalent. Three new potentially disease causing variants linked to HAE-nC1-INH are identified (c.529+4A>G:FXII; Cys248*:Kininogen-1; Arg261His:Plasminogen).
In this study the first Portuguese series of patients with HAE-nC1-INH genetically characterized is described. Differences with others may contribute to improve current unmet needs and raise awareness of this rare disease. Alsothe identification of 3 new variants(additional molecular studies are ongoing) and the first report of erythema marginatum in HAE-n-C1INH is highlighted. Read the full article here.