Inherited thrombophilia increases the relative risk of venous thromboembolism by 3 to 20 fold and has a prevalence of approximately 7% of the population. The most common clinical presentations are symptomatic deep vein thrombosis (DVT) of the leg and pulmonary embolism. It is caused by mutations such as factor V Leiden, prothrombin 20210, protein C deficiency, protein S deficiency, antithrombin deficiency, and methylene tetrahydrofolate reductase.
Physicians have widely believed that testing for inherited thrombophilia might be clinically useful. However, a recent article in the Journal of Hospital Medicine concluded that testing of inpatients for mutations that cause inherited thrombophilia is not clinically useful, cost effective, or reliable in the setting of venous thromboembolism (VTE). The result of such testing does not affect management of acute primary or recurrent VTE. Testing should only be considered using an individualized approach in the outpatient setting with appropriate genetic counseling.
Petrilli CM et al. Inpatient Inherited Thrombophilia Testing. J Hospital Medicine 2016;11:801-804.