Division of Hematology/Oncology/BMT, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Clin Genet. 2012 Jan;81(1):7-17. doi: 10.1111/j.1399-0004.2011.01746.x. Epub 2011 Jul 25.
Venous thromboembolism (VTE) is a common source of morbidity and mortality in developed countries. Heritable risk factors for VTE (thrombophilias) can be identified in 30-50% of affected patients. Factor V Leiden, prothrombin 20210G>A, and deficiencies of antithrombin, protein C and protein S increase the risk of a first VTE. However, an individual's thrombotic risk is determined by a complex interplay of genetic, acquired and circumstantial risk factors. At least 50% of VTE events in thrombophilic individuals are provoked by predisposing factors such as immobility, surgery, trauma, cancer, hormonal therapy and pregnancy. Non-modifiable risk factors such as advancing age and family history also increase thrombotic risk. An evidence-based risk factor evaluation is an essential step in VTE prevention. This review will educate genetics professionals about inherited and acquired risk factors for VTE and discuss recommendations for management of asymptomatic individuals with thrombophilia.
静脉血栓栓塞症（VTE）是发达国家中常见的发病率和死亡率的原因。在 30-50%的受影响患者中，可以确定遗传性 VTE（血栓形成倾向）的风险因素。因子 V 莱顿、凝血酶原 20210G>A 和抗凝血酶、蛋白 C 和蛋白 S 的缺乏增加了首次 VTE 的风险。然而，个体的血栓形成风险是由遗传、获得性和环境风险因素的复杂相互作用决定的。在血栓形成倾向个体中，至少 50%的 VTE 事件是由易患因素引起的，如不动、手术、创伤、癌症、激素治疗和妊娠。不可改变的风险因素，如年龄增长和家族史，也会增加血栓形成的风险。基于证据的危险因素评估是 VTE 预防的重要步骤。这篇综述将教育遗传学家关于 VTE 的遗传和获得性风险因素，并讨论对无症状血栓形成倾向个体的管理建议。
