Utility of hereditary thrombophilia testing among patients with lower extremity deep vein thrombosis

Despite a growing consensus that testing for hereditary thrombophilia (HT) is not recommended in the setting of venous thromboembolism (VTE), such testing is still often requested. We evaluated the effects of HT on the risk of recurrent VTE for patients with lower extremity deep vein thrombosis (DVT).

We conducted a multihospital retrospective study of 867 patients with first-time proximal lower extremity DVT who had undergone testing for HT. Patients with and without HT were compared regarding their VTE recurrence risk via Kaplan-Meier and multivariable analysis.

HT was present in 166 patients (19%). The baseline characteristics were similar between the patients with HT and without HT. No significant difference was found in the recurrence rates between the two groups (HT, 17%; no HT, 15%; P = .345). A Kaplan-Meier survival analysis revealed no significant differences in VTE-free survival between the patients with and without HT (hazard ratio [HR], 1.19; 95% confidence interval [CI], 0.77-1.84; P = .421). On multivariable analysis, the presence of HT was not associated with recurrent VTE. A higher body mass index (HR, 1.06; 95% CI, 1.03-1.10; P = .004) and unprovoked DVT (HR, 2.48; 95% CI, 1.69-3.66; P < .001) were risk factors for recurrence.

HT had no significant impact on the recurrence risk for patients with first-time lower extremity DVT. HT test results would, thus, not be expected to change clinical management and should therefore not be requested routinely for patients with DVT.