Prescrire international
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Prescrire international · May 2017
ReviewThrombophilia: Testing rarely useful after a venous thromboembolic event.
Some people have coagulation abnormalities, collectively referred to as thrombophilia, which increase the risk of thrombosis. What are the most frequently detected thrombophilia? Does throm- bophilia testing after a venous thromboembolic event enable effective adjustment of the treatment strategy?To answer these questions, we reviewed the available evidence using the standard Prescrire methodology. The best known inherited thrombophilia includes the factorV Leiden mutation and the prothrombin G20210A mutation. ⋯ Clinical guidelines only suggest performing thrombophilia testing after a venous thromboem- bolic event in certain situations, for patients with no identified risk factors for recurrence, when the result might influence the decision to continue or stop anticoagulation: testing for inherited thrombophilia if a close relative had unexplained venous thrombosis at a young age, and antiphospholipid antibody testing. The identification of a thrombophilia can lead to overestimating the risk of thrombosis, and underestimating the risk of bleeding in patients receiving anticoagulation. In practice, thrombophilia testing is rarely useful following venous thromboembolism, except perhaps to clarify the risk of recurrence in some patients in whom the thromboembolic event was unexplained, when deciding whether to discon- tinue anticoagulation.