The utility of hereditary thrombophilia testing among patients with unprovoked venous thromboembolism

Abstract

The role of hereditary thrombophilia (HT) testing in the management of unprovoked venous thromboembolism (VTE) remains poorly defined, and clinical practice in regard to such testing is often not supported by available evidence. [1][2][3][4][5][6] Although HT may increase the lifetime risk of both provoked and unprovoked VTE, it remains unclear whether the presence of HT significantly modifies recurrence risk, or whether it has significant bearing on clinical management. [2][3][4][5][6] Post hoc analysis of data from a randomized clinical trial failed to show a significant association between thrombophilic defects and risk of recurrent VTE on anticoagulation (AC). 6 Prospective longterm follow-up of patients included in the Leiden thrombophilia study did not indicate that thrombophilic abnormalities significantly modify risk for recurrent VTE. 7 Similar findings were noted in a prospective cohort wherein HT did not predict the risk of recurrent VTE in the first two years after AC discontinuation. 8 Currently, although available data support limited and selective use of thrombophilia testing, there are no validated or widely accepted consensus guidelines in this regard, and clinical practice (particularly in non-academic