Venous thromboembolism (VTE) is a major cause of morbidity and mortality throughout the world. Up to one half of patients who present with VTE will have an underlying thrombophilic defect. This knowledge has led to a widespread practice of testing for such defects in patients who develop VTE. However, identifying a hereditary thrombophilia by itself does not necessarily change outcomes or dictate therapy. Furthermore, family history of VTE by itself can increase an asymptomatic person's VTE risk several-fold, independent of detecting a known inherited thrombophilia. In this article, we will describe the current validated hereditary thrombophilias including their history, prevalence, and association with VTE. With a focus on evaluating both risks and benefits of testing, we will also explore the controversies of why, who, and when to test as well as discuss contemporary societal guidelines. Lastly, we will share how these tests have been integrated into clinical practice and how to best utilize them in the future.

静脉血栓栓塞症 (VTE) 是全世界发病率和死亡率的主要原因。多达一半的 VTE 患者将有潜在的血栓形成缺陷。这种知识导致了对发生 VTE 的患者的此类缺陷进行测试的广泛实践。然而，单独识别遗传性易栓症并不一定会改变结果或决定治疗。此外，VTE 家族史本身可以使无症状者的 VTE 风险增加数倍，这与检测已知的遗传性易栓症无关。在本文中，我们将描述当前已验证的遗传性易栓症，包括其病史、患病率以及与 VTE 的关联。重点评估测试的风险和收益，我们还将探讨为什么、谁、以及何时测试和讨论当代社会准则。最后，我们将分享这些测试是如何融入临床实践的，以及未来如何最好地利用它们。