Hereditary angioedema with normal C1-inhibitor activity in women.

摘要: Summary Background Hereditary angioedema (HAE) is a well defined autosomal dominant disease (Mendelian Inheritance in Man #106100) that results from an inherited deficiency of C1 (the activated first component complement) inhibitor function. We report unusual variant HAE with normal biochemical C1-inhibitor function, occurring only women. Methods screened 574 patients recurrent the skin for presence HAE. 283 were selected, whom was associated abdominal pain attacks or life-threatening episodes upper-airway obstruction, both, rather than urticaria. measured concentration and functional activity as complement C4 took pedigrees to characterise patients. Findings 94 cases deficiency, positive family history, both identified. Biochemical testing showed 84 49 families had deficiency. 11 these no affected members (probably representing de-novo mutations). Ten women HAE, ten families, protein concentrations concentration. A more detailed study identified another 26 members, who also all Of those women, 14 could be studied The seen successive generations, offspring mothers, sex ratio (M/F) shifted 1/1·5. Interpretation function represents unique genetic arising formal genetics this entity are suggestive X-linked mode inheritance. For disorder we propose term hereditary type 3 (HAE III).