Thrombophilia Testing for Provoked VTE

Gupta A, Sarode R, Nagalla S.
Thrombophilia Testing in Provoked Venous Thromboembolism: A Teachable Moment. JAMA Intern Med 2017;Jun 5:[Epub ahead of print].

The following are key points to remember about this Teachable Moment article, which looks at the value of testing for inherited thrombophilia in patients with provoked venous thromboembolism (VTE):

  1. Venous thromboembolism (VTE) affects an estimated 300,000-600,000 patients annually in the United States.
  2. The risk of VTE recurrence is best predicted by whether the initial VTE episode was provoked or unprovoked, not the results of inherited thrombophilia testing.
  3. Most patients with a provoked VTE have recently undergone surgery, immobility, trauma, or have a concurrent cancer diagnosis. Concurrent use of hormones (e.g., estrogen-containing contraceptive pills) is also frequently considered a provoking factor for VTE development.
  4. For patients with a first provoked VTE event, guidelines recommend anticoagulation for only 3 months (not longer). Prolonged anticoagulation is associated with an increased risk of bleeding that outweighs the risk of VTE recurrence for these patients.
  5. Patients with an unprovoked VTE (none of the provoking risk factors listed above) require longer anticoagulation due to a higher risk of recurrence that outweighs the risk of bleeding associated with long-term anticoagulation therapy.
  6. Thrombophilia testing performed in the setting of an acute clot or ongoing anticoagulation therapy will often result in spurious results (usually false positive). For example, natural anticoagulants (e.g., protein C and S, antithrombin) are consumed during an acute thrombotic event and the levels can be reduced by ongoing anticoagulant therapy.
  7. A recent study identified that up to 55% of Medicare patients with provoked VTE had undergone inappropriate thrombophilia testing, associated with significant cost to the healthcare system.
  8. While thrombophilia testing rarely impacts management decisions about anticoagulation therapy, it may be beneficial for genetic testing purposes in patients presenting with a first unprovoked VTE at a young age (e.g., <45 years) or at an unusual site.
  9. For patients with unprovoked VTE at a young age, VTE at an unusual site, arterial thrombosis, or pregnancy morbidity, testing for antiphospholipid antibodies, JAK2 mutation, and paroxysmal nocturnal hemoglobinuria may be beneficial.
  10. There is no role for extensive cancer screening (e.g., computed tomography scanning) in patients with VTE. Only routine, age-appropriate cancer screening is recommended.

Clinical Topics: Anticoagulation Management, Noninvasive Imaging, Prevention, Pulmonary Hypertension and Venous Thromboembolism, Vascular Medicine, Anticoagulation Management and Venothromboembolism, Computed Tomography, Nuclear Imaging

Keywords: Antibodies, Antiphospholipid, Anticoagulants, Antithrombins, Contraceptive Agents, Diagnostic Imaging, Estrogens, Genetic Testing, Hemoglobinuria, Paroxysmal, Medicare, Neoplasms, Pregnancy, Primary Prevention, Protein C, Risk Factors, Thrombophilia, Thrombosis, Tomography, X-Ray Computed, Vascular Diseases, Venous Thromboembolism

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