factor xii mutations, estrogen-dependent inherited angioedema, and related conditions第十二因子突变,estrogen-dependent遗传性血管性水肿和相关条件.pdfVIP

Binkley Allergy, Asthma Clinical Immunology 2010, 6:16 /content/6/1/16 ALLERGY, ASTHMA CLINICAL IMMUNOLOGY REVIEW Open Access Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions Karen E Binkley Abstract The clinical, biochemical and genetic features of the conditions known as estrogen-dependent inherited angioe- dema, estrogen-associated angioedema, hereditary angioedema with normal C-1 inhibitor, type III angioedema, or factor XII angioedema are reviewed. Discussion emphasizes pathogenesis, diagnosis, and management. Review forms of HAE, were independently reported by North Estrogen-dependent and estrogen-associated inherited American and European investigators in 2000 [1,2]. angioedemas were first described in 2000 [1,2], and Cases are increasingly recognized around the world cases are increasingly recognized around the world [3-7]. The nomenclature of these conditions is evolving [3-7]. Recent studies offer new insights into the patho- as their underlying genetic abnormalities are elucidated. genesis and treatment of this condition, which have rele- Originally referred to by clinical phenotype as estrogen- vance not only to these patients, but to those with dependent (or estrogen-associated) inherited angioe- classic forms of hereditary angioedema as well. Encoura- dema (EDIA, EAIA) [1], HAE with normal C1-INH ging information on treatment of estrogen-related activity [2]; or simply distin