遗传性易栓症的妊娠期筛查与抗凝治疗评价

摘要

汉族人群遗传性易栓症以蛋白C或蛋白S缺乏为主,抗凝血酶缺乏少见,罕见凝血因子ⅤLeiden (FⅤL)突变及PGM突变.遗传性易栓症增加妊娠期血栓栓塞性疾病的风险,是胎盘介导的妊娠并发症的协同性促进因素,而不是主要病因.如果已经明确具有进行治疗的指征,没有必要再行遗传性易栓症的筛查;如果病因不明,而遗传性易栓症筛查的阳性结果可能会影响治疗决策时,筛查或许是有用的.现有证据仅表明,预防性应用低剂量阿司匹林可以减少子痫前期复发.低分子肝素是否能改善胎盘介导的妊娠并发症的再发风险,单中心和多中心研究的结论并不一致.虽然缺乏有力的证据支持,目前仍建议对具有胎盘介导的妊娠并发症病史的遗传性易栓症患者进行选择性、个体化抗凝治疗.%In Han populations,deficiencies in protein S and protein C are most common,and deficiencies in antithrombin are not common,while F Ⅴ L mutation and PGM mutation are rare.Inherited thrombophilias increase the risk of gestational venous thromboembolism,and become a contributory factor rather than a single cause of such placentamediated pregnancy complications.If there are clear indications for treatment,there is no need for any inherited thrombophilias screening.Screening may be useful if the cause is unknown and the positive outcome of inherited antithrombotic screening may affect treatment decisions.The existing evidence suggests that prophylactic use of low-dose aspirin can reduce pre-eclampsia.Regarding the question whether LMWH can reduce the risk of recurrence of placenta-mediated pregnancy complications,the conclusions of single center and multi-center studies are different.Despite limited evidence of efficacy,it is recommended to use selective and personalized anticoagulant therapy to prevent these complications.