The Role of Hereditary Thrombophilia Testing in Management of First-Time Pulmonary Embolism

Aim Hereditary thrombophilia (HT) testing is frequently conducted during the evaluation of patients with pulmonary embolism (PE). However, the utility of routine HT testing in this setting is unclear. We sought to assess the association of HT with risk of recurrent venous thromboembolism (VTE) following fi rst-time PE. Methods We conducted a multi-hospital retrospective study. Two hundred and ninety (290) patients with a fi rst- time PE, who had been tested for HT, completed at least 3 months of therapeutic anticoagulation (AC), subsequently discontinued AC, and were followed for at least 36 months thereafter, were included. Results HT was present in 48 of the 290 included patients (17%). Median follow-up after discontinuing AC was 61 months (interquartile range, 43 - 79 months). The overall recurrence rate of VTE during follow-up was 58 per 290 (20%). A total of 47 of 242 patients (19%) in the HT-absent group had a recurrent VTE, compared with 11 of 48 (22%) in the HT-present group. There was no signi fi cant difference in VTE-free survival between groups on Kaplan - Meier analysis; the hazard ratio (HR) for VTE recurrence for those with HT compared to those without (HR HT-present: HT-absent) was 1.240 (95% con fi dence interval [CI] 0.614 - 2.502; p = 0.548). On multivariable analysis, HT was not associated with risk of recurrent VTE (HR 1.262; 95% CI 0.640 - 2.488), and the only variable associated with VTE recurrence was unprovoked PE (HR 2.954; 95% CI 1.64 - 5.314). Conclusions These fi ndings demonstrate that the presence of HT is not associated with the risk of recurrent VTE following fi rst PE, and support limiting the use of HT testing among patients with fi rst PE.