Thrombophilia Testing and Venous Thrombosis

Connors JM.
Thrombophilia Testing and Venous Thrombosis. N Engl J Med 2017;377:1177-1187.

The following are key points to remember from this review article about thrombophilia testing and venous thrombosis:

  1. The majority of patients with venous thromboembolism (VTE) should not be tested for thrombophilia. Data supporting clinical usefulness and benefits are limited or nonexistent.
  2. Most patients with inherited thrombophilia can be identified by coagulation experts based on the patient’s personal and family history of VTE. Thrombophilia testing is usually not required.
  3. Factors associated with an inherited thrombophilia include VTE at a young age (<40-50 years), a strong family history of VTE, VTE in conjunction with weak provoking factors at a young age, recurrent VTE, and VTE in an unusual site (e.g., cerebral or splanchnic veins).
  4. Do not perform thrombophilia testing at the time of a VTE event, as it can be inaccurate (often false positive). Perform testing (when indicated) after completion of initial therapy and if it might change management strategies.
  5. Do not perform thrombophilia testing while a patient is receiving anticoagulation. Instead, wait until 2 weeks after discontinuing warfarin, or 2 days for direct oral anticoagulants and heparin.
  6. The goal of thrombophilia testing should be to aid decision making regarding future VTE prophylaxis, to guide testing of family members, and to determine the cause in severe or fatal VTE. Test results alone should not be used to decide on the duration of anticoagulation therapy.
  7. Most VTE recurrence risk tools do not incorporate thrombophilia test results into their risk stratification schemes.
  8. For patients with provoked VTE, even if they have homozygous factor V Leiden, prothrombin gene mutations, or deficiencies of protein S, C, or antithrombin, they do not require lifelong anticoagulation.
  9. Currently available thrombophilia tests are insufficient to identify inherited risks of VTE. Therefore, a negative test should not be interpreted as a patient being free of thrombophilia.
  10. Testing for the antiphospholipid antibody syndrome may be useful in patients with unprovoked VTE if there is clinical equipoise about extended anticoagulation courses. It can also be useful to determine warfarin versus direct oral anticoagulant therapy.

Clinical Topics: Anticoagulation Management, Prevention, Pulmonary Hypertension and Venous Thromboembolism, Vascular Medicine, Anticoagulation Management and Venothromboembolism

Keywords: Anticoagulants, Antiphospholipid Syndrome, Heparin, Mutation, Primary Prevention, Protein C, Protein S, Prothrombin, Risk, Thrombophilia, Venous Thromboembolism, Venous Thrombosis

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