Inherited thrombophilia and venous thromboembolism
Inherited thrombophilia and venous thromboembolism
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DOI：
10.1055/s-2006-951298
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发表时间：
2006-10-01
影响因子：
5.7
通讯作者：
Prandoni, Paolo
中科院分区：
文献类型：
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作者：
Simioni, Paolo;Tormene, Daniela;Prandoni, Paolo
血栓形成倾向包括任何与静脉血栓栓塞（VTE）倾向增加相关的遗传性和获得性疾病。遗传性血栓形成倾向是静脉血栓栓塞症的主要决定因素之一，遗传性血栓形成倾向的存在使携带者与非携带者相比，静脉血栓栓塞症的风险增加。临床表现和潜在的血栓性缺损类型之间没有明确的关系。因此，遗传性血栓形成倾向的诊断必须建立在实验室基础上。携带有血栓性缺陷的患者可能比非携带者在更小的年龄发生血栓形成。然而，在生命后期发生的首次血栓形成表现也可能是血栓形成倾向的表现，在许多情况下，这仍然是事件的唯一病因学解释。对有症状先证者的家庭成员进行筛查有可能发现仍无症状的携带者，这些携带者可能在VTE高危情况下从更适当的血栓预防中获益。属于这些血栓形成家族的育龄女性可能会从筛查中获得最大的优势。许多遗传性血栓性疾病可被认为是复发性VTE的危险因素，特别是如果同一患者存在一种以上的缺陷。在最严重的血栓性疾病中，可能需要更强化或延长VTE治疗时间，以预防复发性VTE。根据内源性凝血酶潜力评估凝血酶生成的新方法的可用性是非常有前途的工具，用于识别将发生血栓形成或将遇到VTE复发的遗传性血栓形成倾向的携带者。
The term thrombophilia includes any inherited and acquired disorders associated with an increased tendency to venous thromboembolism (VTE). Inherited thrombophilia is one of the main determinants of VTE, and the presence of inherited thrombophilic defects exposed carriers to increased risks for VTE compared with noncarriers. There is no clear relationship between clinical manifestations and the type of underlying thrombophilic defect. Thus, the diagnosis of inherited thrombophilia has to be established on a laboratory basis. Carriers of thrombophilic defects may experience thrombosis at a younger age than noncarriers. However, a first thrombotic manifestation that occurs late in life may also be an expression of thrombophilia and this remains in many cases the only etiopathogenetic explanation for the event. Screening of family members of symptomatic probands has the potential to identify still asymptomatic carriers who may benefit from more appropriate thromboprophylaxis during high-risk situations for VTE. Women of fertile age who belong to these thrombophilic families might receive the greatest advantage from screening. Many inherited thrombophilic disorders can be considered risk factors for recurrent VTE, especially if more than one defect is present in the same patient. More intensive or prolonged duration of VTE treatment might be requested for the prevention of recurrent VTE in the most severe thrombophilic conditions. The availability of new methods for the assessment of thrombin generation in terms of endogenous thrombin potential are very promising tools for the identification of those carriers of inherited thrombophilia who will develop thrombosis or who will encounter recurrence of VTE.