Thrombophilia testing: evidence-based feasibility and clinical benefit
DOI:
https://doi.org/10.15574/HW.2025.4(179).8495Keywords:
thrombophilias, venous thromboembolism, deficiency of natural anticoagulants, gene mutations of coagulation factors, antiphospholipid antibodies, essential thrombocythemia, paroxysmal nocturnal hemoglobinuriaAbstract
Aim - to analyze current recommendations from the American and British Societies of Hematology regarding the feasibility and clinical indications for thrombophilia testing in patients with venous thromboembolism, with an emphasis on identifying situations in which testing may impact further diagnosis, treatment, and prevention of thrombotic complications.
This article provides recommendations from the British and American Societies of Haematology for testing for thrombophilia in patients with venous thromboembolism (VTE), particularly if they are young, have recurrent episodes, thrombosis in unusual sites, or have a family history of the disease. Hereditary and acquired thrombophilias are risk factors for VTE that can be identified in many patients with VTE. Currently, the most common tests performed are for hereditary thrombophilias, which include antithrombin, protein C, or protein S deficiency, as well as the presence of genetic mutations in factor V Leiden and prothrombin G20210A. Lupus anticoagulant, anticardiolipin antibodies, and antiβ2-glycoprotein-1 antibodies, which are laboratory markers of antiphospholipid syndrome, are also included in the thrombophilia testing panel. These guidelines are intended to assist in making decisions about thrombophilia testing. First of all, the expert group does not recommend routine testing of clotting factors to assess risk of thrombosis and genetic testing to predict a first episode of VTE. Instead, thrombophilia testing should be performed in patients who have had symptomatic venous thromboembolism related to pregnancy or combined oral contraceptive use. Testing for genetic variants responsible for phenotypic deficiencies of antithrombin, protein C, and protein S should be performed when the results will impact treatment, and screening for antiphospholipid antibodies is appropriate after an episode of unprovoked VTE, as it is important for the choice of antithrombotic therapy. However, testing for hereditary thrombophilia after a venous thrombotic event as a routine method for making treatment decisions is not appropriate.
The authors declare that there is no conflict of interest.
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