Routine thrombophilia testing little value in VTE

ROUTINE testing for genetic thrombophilia in patients with unprovoked venous thromboembolism (VTE) has little impact on management, US experts advise. 

The Evaluation of Genomic Applications in Practice and Prevention Working Group found “moderate” evidence against routine testing for factor V Leiden (FVL) and prothrombin 20210G>A PT mutations.

“Longer-term secondary pro­phylaxis after an initial idio­pathic VTE event yields comparable benefits to those with and without a FVL or PT mutation,” the experts said. 

Gene mutation status in asymptomatic adult family members of patients with VTE and a FVL or PT mutation also made no difference to VTE prevention with primary long-term anti­coagulation. 

An accompanying editorial noted uncommon homozy­gosity for FVL doubled the risk of a VTE recurrence and double heterozygous status led to a fivefold increased risk.