From the Guidelines
A thrombophilia panel should be performed simultaneously with factor V Leiden testing to identify patients at risk of recurrent thrombosis and to target anticoagulation therapy to those at highest risk. This approach is supported by the American College of Medical Genetics consensus statement on factor V Leiden mutation testing 1, which highlights the importance of identifying patients with multiple genetic risk factors for venous thrombosis. The panel testing should include common hereditary thrombophilic factors, such as Factor V Leiden mutation, Prothrombin G20210A mutation, Protein C deficiency, Protein S deficiency, Antithrombin deficiency, and antiphospholipid antibodies, including lupus anticoagulant and/or anticardiolipin antibody.
- Key considerations for thrombophilia panel testing include:
- Testing should ideally be performed when the patient is not on anticoagulation therapy and at least 3 months after an acute clotting event, as acute thrombosis and anticoagulants can affect results
- The clinical utility of thrombophilia testing lies in guiding decisions about the duration of anticoagulation therapy, informing family screening, and assessing risk in high-risk situations like pregnancy or surgery
- The presence of a thrombophilia doesn't always necessitate lifelong anticoagulation, as the decision depends on the specific defect identified and the patient's overall clinical picture
- Testing is not routinely recommended for all patients with VTE, as results often don't change immediate management, and universal screening is not cost-effective. The goal of thrombophilia panel testing is to identify patients at high risk of recurrent thrombosis and to provide targeted anticoagulation therapy to prevent morbidity and mortality, while minimizing the risk of bleeding events 1.
From the Research
Thrombophilia Panel Overview
- Thrombophilia is an inherited or acquired predisposition to thrombosis, and testing may be considered in certain situations, such as when the results can influence management decisions 2, 3.
- The decision to test for thrombophilia should be made by healthcare professionals who can provide pre-test counseling, properly interpret the test results, and provide education and advice to the patient 3.
Indications for Thrombophilia Testing
- Testing may be indicated in patients with venous thromboembolism (VTE) at intermediate risk of recurrence, as the finding of a strong thrombophilia can influence the decision to extend anticoagulation treatment 3.
- Patients with a family history of VTE or thrombophilia may also be considered for testing, especially before major surgery, pregnancy, or the use of combined oral contraceptives or hormone replacement therapy 4.
- Thrombophilia testing is not recommended for patients whose VTE was provoked by a major transient risk factor 3.
Laboratory Considerations
- Thrombophilia testing requires highly skilled personnel for laboratory analysis and interpretation, and clinical conditions that influence the results must be considered to obtain valid results 4, 5.
- Tests involved in thrombophilia testing include natural anticoagulants, procoagulants, and anti-phospholipid antibodies, and the results must be considered in the context of pre-analytical, analytical, and post-analytical variables to minimize misinterpretation 4, 5.
Management and Treatment
- The results of thrombophilia testing can influence the type and duration of treatment, and therapeutic strategies can be derived from the risk stratification of thrombophilic conditions and clinical risk factors 4.
- Direct oral anticoagulants (DOACs) have been considered as potential alternatives to traditional anticoagulant agents in patients with inherited thrombophilia, and further studies are needed to determine their effectiveness 6.