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Báo cáo y học: "Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor. | Bork Allergy Asthma Clinical Immunology 2010 6 15 http www.aacijournal.eom content 6 1 15 ALLERGY ASTHMA CLINICAL IMMUNOLOGY REVIEW Open Access Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor Konrad Bork Abstract Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000 families with hereditary angioedema normal C1 inhibitor activity and protein in plasma were described. Since then numerous patients and families with that condition have been reported. Most of the patients by far were women. In many of the affected women oral contraceptives hormone replacement therapy containing estrogens and pregnancies triggered the clinical symptoms. Recently in some families mutations in the coagulation factor XII Hageman factor gene were detected in the affected persons. Introduction Angioedema is clinically characterized by self-limiting episodes of marked edema involving the skin gastrointestinal GI tract and other organs. Various forms of acquired and hereditary angioedema HAE share this clinical presentation. Classic HAE is associated with a quantitative type I or qualitative type II deficiency of C1 esterase inhibitor C1-INH caused by mutations of the C1-INH gene. Until recently it was assumed that HAE is a disease that results exclusively from a genetic deficiency of the C1-INH. In 2000 10 families with this disease were described 1 . In these families a total of 36 women but not a single man were affected. All patients had normal C1-INH concentration and activity with respect to C1 esterase inhibition ruling out both types of HAE HAE type I and HAE type II . This hitherto unknown disease was proposed to be termed as hereditary angioedema with normal C1 inhibitor occurring mainly in women or hereditary angioedema type III. Subsequently two additional families were described with seven affected women in one family and four in the other 2 3 . Later on .