Thrombophilia testing should not be performed in most clinical situations, including after provoked or unprovoked VTE, as it rarely impacts management and may result in patient harm.
Does thrombophilia testing impact clinical management or outcomes in patients with VTE and their relatives?
Routine thrombophilia testing is not recommended for most patients with VTE or their relatives, as it does not meaningfully impact clinical management and carries potential risks.
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.
Stevens et al. (Fri,) conducted a review in Thrombophilia and venous thromboembolism. Thrombophilia testing was evaluated. Thrombophilia testing should not be performed in most clinical situations, including after provoked or unprovoked VTE, as it rarely impacts management and may result in patient harm.
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