Thrombophilia Testing in Stroke: A Case Report and Review of Evidence

Thrombophilia is commonly associated with venous thromboembolism, but its relationship with arterial thrombosis, specifically stroke, is not as clearly established. Several large studies have failed to establish a significant connection between inherited thrombophilia and stroke. While tests for Factor V Leiden mutation, prothrombin mutation, protein C deficiency, protein S deficiency, antithrombin deficiency, and antiphospholipid antibodies are typically done for thrombophilia diagnosis, there appears to be little or no correlation between these markers and stroke. In this article, we discuss a case of a 26-year-old male admitted with right neck pain that developed after playing basketball; he was found to have a right cerebellar infarction. He underwent extensive tests for hypercoagulable disorders, which were negative. We also review current evidence and reassess the value of thrombophilia testing in stroke patients.