静脉血栓栓塞症的遗传易感性及其基因筛查

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。

Genetic susceptibility and genetic screening to venous thromboembolism

The hereditary risk factors of venous thromboembolism are different among different races. In western population, the main risk factors are activated protein C resistance(APC-R) and mutation of factor V Leiden, methylenetetrahydrofolate reductase polymorphism(C677T)and prothrombin G20210A. While in Chinese population, disorder of Protein C system and hyperhomocysteinemia are the major genetic risk factors. The existence of multiple genetic risk factors increases the incidence of primary and recurrent venous thromboembolism. Thrombophilia can be inherited or acquired. The inherited type, which is also termed inherited thrombophilia. The patients being doubted of getting thrombophilia should be tested for inherited thrombophilia, and the results of the test will affect the duration of anticoagulant therapy, and whether the family members should be examined.