Oestrogen‐dependent hereditary angio‐oedema with normal C1 inhibitor: description of six new cases and review of pathogenic mechanisms and treatment

Abstract

Clinical and laboratory findings mirror the observations of previous reports of oestrogen-dependent angio-oedema with normal C1INH. This is the first published series of type III HAE in Spain.

Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy

“…Subsequently, more families were reported in which all affected individuals were women. [5][6][7][8][9][10][11] In other families, men also were affected. [12][13][14] In May 2006, we identified causative mutations in 6 index patients of 20 families and in 22 patients who were members of the corresponding 6 families: 2 different missense mutations were verified as being responsible for the disease according to the cosegregation pattern.…”

Hereditary angioedema with normal C1 inhibition

“…This treatment was ineffective in all 23 cases [1]. Likewise, the patients cited by Herrmann et al [27] and Serrano et al [10] did not respond to corticosteroids and antihistamines.…”

How we manage persons with hereditary angioedema

“…In many cases, angioedema attacks cease after oestrogens are withdrawn. Published uncontrolled data has demonstrated the efficacy of several drugs for long-term prophylaxis in HAE-nl-C1INH, including progestins (Serrano et al, 2008;Bork et al, 2009), AA (Binkley & Davis, 2000;Herrmann et al, 2004) and tranexamic acid (Serrano et al, 2008;Bork et al, 2009). Progestins may work by opposing the oestrogen effect, and at higher doses have anti-gonadotrophic effects similar to AA (Saule et al, 2013).…”