Thrombophilias are hereditary and/or acquired conditions that predispose patients to
thrombosis. Testing for
thrombophilia is commonly performed in patients with
venous thrombosis and their relatives; however such testing usually does not provide information that impacts management and may result in harm. This manuscript, initiated by the Anticoagulation Forum, provides clinical guidance for
thrombophilia testing in five clinical situations: following 1) provoked
venous thromboembolism, 2) unprovoked
venous thromboembolism; 3) in relatives of patients with
thrombosis, 4) in female relatives of patients with
thrombosis considering
estrogen use; and 5) in female relatives of patients with
thrombosis who are considering pregnancy. Additionally, guidance is provided regarding the timing of
thrombophilia testing. The role of
thrombophilia testing in arterial
thrombosis and for evaluation of recurrent pregnancy loss is not addressed. Statements are based on existing guidelines and consensus expert opinion where guidelines are lacking. We recommend that
thrombophilia testing not be performed in most situations. When performed, it should be used in a highly selective manner, and only in circumstances where the information obtained will influence a decision important to the patient, and outweigh the potential risks of testing. Testing should not be performed during acute
thrombosis or during the initial (3-month) period of anticoagulation.