Evaluation for underlying hypercoagulable states in patients with thrombosis is a frequent clinical conundrum. Testing for thrombophilias is often reflexively performed without strategic approach nor clear appreciation of the clinical implications of such results. Guidelines vary in the appropriate utilization of thrombophilia testing. In this review, we discuss the more commonly encountered inherited and acquired thrombophilias, their association with initial and recurrent venous thromboembolism, arterial thromboembolism, and role in women's health. We suggest an approach to thrombophilia testing guided by the clinical presentation, suspected pathophysiology, and an understanding of how such results may affect patient care.
Keywords: arterial thrombosis; hypercoagulable states; thrombophilia; venous thromboembolism (VTE).