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):
- Venous thromboembolism (VTE) affects an estimated 300,000-600,000 patients annually in the United States.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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, Cardio-Oncology, 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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