Thrombophilia testing for whom, why and when – a review of current practices

Thromboembolic conditions have accounted for 1 in 4 deaths worldwide in 2010. Thrombosis, which is the common pathogenesis of myocardial infarction, ischaemic stroke, and venous thromboembolism (VTE), is the leading cause of death (1/5 deaths in 1990). Hospital-acquired VTE accounts for approximately 60 percent of all VTEs annually. Others include cancer-associated thrombosis and gender associated risks. In addition to the disease burden, it also causes a significant economic burden world-wide. Multiple diagnostic tests and treatment, prolonged hospital stay and follow-up care, including management of recurrent VTE can be extremely costly. Therefore, it is important to focus on VTE prevention so that health care systems can save money, improve outcomes and save lives. In this background, it is important to have a clear direction as to when, how and whom to test for thrombophilia. Testing for thrombophilias is often performed without a clear understanding of the clinical implications of such results. Guidelines vary in the appropriate use of thrombophilia testing. In this review, these variations in thrombophilia testing and the implications mentioned in the recent guidelines and other articles are discussed. The review of such guidelines, guidance statements, review articles conclude that screening for hereditary thrombophilia has very limited advantage in the management of patients with thrombosis. Screening for antiphospholipid syndrome (APLS) is more important given its high rate of recurrence in both venous and arterial thrombosis. Screening for underlying haematological conditions such as myeloproliferative neoplasms (MPN) and paroxysmal nocturnal haemoglobinuria (PNH) is also considered important.