Abstract

COSME, Joana et al. Hereditary angioedema with normal C1 inhibitor: The importance of a family genetic study. Rev Port Imunoalergologia [online]. 2015, vol.23, n.3, pp.175-187. ISSN 0871-9721.

Hereditary angioedema (HAE) with normal C1 inhibitor (C1 INH) is associated with normal levels and activity of C1INH. Mutations in F12 gene that codifies for coagulation factor XII are reported to occur in up to 25% of Europeans with this condition. In some patients high-leveled estrogenic conditions such as oral contraceptives, hormone substitution therapy and pregnancy exacerbate the disease. The authors describe a case of a female that, like her mother, has the diagnosis of HAE with normal C1INH with a missense mutation c.1032 C>a on F12 gene, with history of recurrent episodes of oedema sometimes associated with high-leveled estrogenic conditions (oral contraceptives, vaginal ring and pregnancies). Genetic study of patients’ offspring found a missense mutation c.1302 C>A and a frameshift mutation on F12 gene (not described yet) on the youngest daughter. The aim of this article is to show that searches for F12 mutations in offspring of patients with HAE with normal C1INH allows an early diagnosis and suspension of the triggering factors.

Keywords : F12 gene; factor XII; frameshift mutation; hereditary angioedema with normal C1 inhibitor; missense mutation.

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