Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom.
Semin Respir Crit Care Med. 2012 Apr;33(2):127-37. doi: 10.1055/s-0032-1311791. Epub 2012 May 30.
Venous thrombosis, or venous thromboembolism, comprises deep vein thrombosis with or without symptomatic pulmonary embolus. The development of symptomatic venous thrombosis is highly dependent on gene-environment interaction. In most instances this interaction results in hypercoagulability (the intermediate phenotype) sufficient to result in intraluminal clot formation (the disease phenotype). The genetic framework underlying venous thrombosis is complex, and there is a large material contribution from disease and interaction with environmental factors. For example, venous thrombosis is related to recent hospitalization in approximately half of all adult cases. After a first episode of venous thrombosis patients are 40 times more likely to suffer a further event compared with previously unaffected individuals. However, the risk differs between patients. Duration of anticoagulation (lifelong or not) should be made with reference to whether an episode of thrombosis was provoked and the presence of other risk factors. The results of testing for heritable thrombophilia rarely influence duration of treatment.
静脉血栓形成，或静脉血栓栓塞症，包括有或无症状的肺栓塞的深静脉血栓形成。有症状的静脉血栓形成的发展高度依赖于基因-环境相互作用。在大多数情况下，这种相互作用导致高凝状态（中间表型）足以导致管腔内血栓形成（疾病表型）。静脉血栓形成的遗传基础很复杂，并且疾病和与环境因素的相互作用有很大的物质贡献。例如，静脉血栓形成与大约一半的所有成年病例的最近住院有关。与以前未受影响的个体相比，首次静脉血栓形成后患者再次发生事件的可能性增加了 40 倍。然而，患者之间的风险不同。抗凝治疗的持续时间（终身或非终身）应参考血栓形成是否是由诱发因素引起的以及是否存在其他危险因素来确定。遗传性血栓形成倾向的检测结果很少影响治疗时间。
