Familial thrombophilia: genetic risk factors and management
Familial thrombophilia: genetic risk factors and management
复制标题
DOI：
10.1111/joim.1997.242.s740.9
复制
发表时间：
1997-01-01
影响因子：
11.1
通讯作者：
Preston, FE
中科院分区：
文献类型：
--
作者：
Makris, M;Rosendaal, FR;Preston, FE
现在有一些潜在的遗传性血栓形成的候选因素，但只有一小部分有明确的因果关系。公认的家族性血栓形成的原因包括因子V莱顿缺陷和凝血酶原20210 G>；A变异，以及抗凝血酶、蛋白C和蛋白S的缺乏。这些遗传性异常占静脉血栓栓塞症患者的30%-50%。凝血因子V莱顿存在于多达7%的欧洲人口中，是家族性血栓形成的最常见原因。在世界范围内，其流行情况因族裔而有很大差异。与其他类型的家族性血栓形成症一样，因子V Leiden的频率高度依赖于所研究的人群。静脉血栓栓塞症，出现在大约55%的家族性凝血抑制物缺乏的个体中，是家族性嗜血栓症的主要临床表现。有迹象表明，在那些具有因子V莱顿的患者中，静脉血栓形成的风险略低。合并缺陷者和因子V Leiden纯合子者血栓形成风险显著增加。血栓形成的危险因素包括怀孕，包括产褥期、手术、口服避孕药的使用和长时间的制动。相当大比例的静脉血栓形成事件可以自发发生，即没有明显的沉淀事件。家族性血栓形成症患者的治疗包括咨询、血栓预防和血栓形成治疗。虽然急性血栓形成事件的立即治疗与未发现异常的患者没有显著区别，但由于缺乏适当的临床试验，详细的患者管理严重受阻。迫切需要前瞻性的临床研究，以确定个体血栓形成的风险并评估不同的治疗策略。
There are now a number of potential candidates for inherited thrombophilia but a definite causal relationship has been established for only a proportion of these. Accepted causes of familial thrombophilia include the factor V Leiden defect and the prothrombin 20210 G>A variant, as well as deficiencies of antithrombin, protein C and protein S. Together these inherited abnormalities account for 30-50% of individuals presenting with venous thromboembolism. Factor V Leiden, which is present in up to 7% of the European population, is the most common cause of familial thrombophilia. On a worldwide basis its prevalence varies greatly with ethnic origin. In common with other types of familial thrombophilia the frequency of factor V Leiden is highly dependent on the population group studied. Venous thromboembolism, present in approximately 55% of individuals with familial coagulation inhibitor deficiencies, is the predominant clinical manifestation of familial thrombophilia. There are indications that the venous thrombotic risk is somewhat less in those with factor V Leiden. The thrombotic risk is markedly increased in those with combined defects and in those who are homozygous for factor V Leiden. Risk factors for thrombosis include pregnancy, including the puerperium, surgery, oral contraceptive usage and prolonged periods of immobilization. A substantial proportion of venous thrombotic events may occur spontaneously, i.e. without an obvious precipitating event. The management of patients with familial thrombophilia comprises counselling, thromboprophylaxis and thrombosis treatment. Although the immediate treatment of an acute thrombotic event is not significantly different from that of patients without recognised abnormalities, detailed patient management is seriously hampered by a lack of appropriate clinical trials. Prospective clinical studies, designed to ascertain individual thrombotic risk and to evaluate different therapeutic strategies are urgently required.