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静脉血栓栓塞症的遗传性危险因素存在着种族差异。白种人以活化蛋白C抵抗、凝血因子VLeiden突变、亚甲基四氢叶酸还原酶C677T突变及凝血酶原G20120A突变为主要遗传易感因素。中国人群则以蛋白C系统异常及高同型半胱氨酸血症为主。多个遗传性危险因素的联合存在增加了首发和复发静脉血栓的风险。易栓症可以是遗传性或获得性的。遗传原因造成的高凝状态称为血栓遗传倾向。怀疑易栓症的患者应作血栓遗传倾向的基因筛查,其筛查结果将决定抗凝治疗的持续时间和家族成员是否也应接受基因筛查。
There are racial differences in the genetic risk factors for venous thromboembolism. Caucasians with activation of protein C resistance, coagulation factor VLeiden mutation, methylenetetrahydrofolate reductase C677T mutation and prothrombin G20120A mutation as the main genetic predisposition. The Chinese population is dominated by protein C system abnormalities and hyperhomocysteinemia. The combined presence of multiple hereditary risk factors increases the risk of first-episode and recurrent venous thrombosis. Thrombophilia can be hereditary or acquired. Genetic causes of hypercoagulable state known as genetic tendency of thrombosis. Patients with suspicious thrombophilia should be genetically geneticized for screening for thrombosis and the screening results will determine the duration of anticoagulant therapy and whether family members should also undergo genetic screening.