Arterial thrombosis and the role of thrombophilia

Thrombophilia is a prominent risk factor for venous thromboembolism. The role of thrombophilia in determining the risk of arterial thrombotic events is less well defined. In this review, we summarize the existing literature on the relationship between thrombophilic defects and the risk of arterial thrombosis, in particular myocardial infarction and stroke. The six defects reviewed are the factor V Leiden mutation, the prothrombin G20210A mutation, protein C deficiency, protein S deficiency, antithrombin deficiency, and the antiphospholipid syndrome. We observed that substantial evidence supports an association between the presence of the antiphospholipid syndrome and the risk of myocardial infarction, particularly among people in whom the atherosclerotic burden is low. The literature contains no solid evidence to support an important relationship between the other thrombophilic defects reviewed and the risk of arterial thrombosis. We conclude that thrombophilia screening in unselected patient populations with myocardial infarction or ischemic stroke is not justified.