Thrombophilia evaluation in pulmonary embolism

Abstract

Purpose of review: Patients with pulmonary embolism commonly undergo thrombophilia evaluation for a variety of reasons including risk stratification for recurrent venous thromboembolism (VTE) and treatment planning. However, the utility of thrombophilia testing in many clinical scenarios remains unclear. This review evaluates current recommendations for thrombophilia testing described in consensus VTE guidelines, recent literature on the clinical application of these recommendations, novel genetic assessments for hereditary thrombophilias, and studies evaluating use of direct oral anticoagulants (DOACs) in VTE patients with thrombophilias.

Recent findings: Current VTE guidelines advise limited use of thrombophilia testing, recognizing that testing may be misinterpreted and frequently does not lead to a change in management. Testing and test results are not necessarily benign, are frequently misinterpreted, and can lead to increased anxiety in both patients and clinicians. Recent studies have offered innovative techniques to better align clinical practice with these recommendations as well as expanded genomic assessments to improve the scope and predictive value of thrombophilia testing. There is also emerging literature on the appropriateness of direct oral anticoagulant therapy for VTE patients with hereditary thrombophilias or antiphospholipid syndrome.

Summary: Thrombophilia testing in its current form does not significantly impact clinical management or improve outcomes for most VTE patients. Therefore, it should be employed judiciously and only in patients for whom it is likely to alter clinical management. Novel expanded genomic thrombophilia testing approaches and additional studies evaluating optimal anticoagulant treatment in various thrombophilia subpopulations will make thrombophilia testing more useful for patients moving forward.