Consistency of thrombophilia testing in a reference center according to the current guidelines

The clinical relevance of hereditary thrombophilia (HT) testing in venous thromboembolic disease (VTE) is limited to specific guidelines. The present study aimed to evaluate the consistency of HT prescriptions in clinical practice according to the current French guidelines.

This study was conducted from April 2017 to February 2018 in a specialized haemostasis centre and included 58 consecutive patients referred by their clinicians for thrombophilia screening (56 patients following a personal VTE event and 2 asymptomatic relatives of a first-degree patient who had had VTE). One experienced clinician met every patient and assessed a pre-test prediction for the presence or absence of HT based on the clinical characteristics of VTE which was compared to the HT biological results.

Among the 58 patients referred to our specialized haemostasis centre, 60% were outside the scope of recommendations for thrombophilia screening. Eight patients were diagnosed with HT. Six out of 8 (75%) patients with diagnosed HT had a history of unprovoked VTE event. Familial history with VTE was a poor predictor for positive HT testing among relatives. The positive and negative predictive values of the clinical prediction were respectively of 19% and 89%.

The present results underline that screening for HT remains too largely prescribed. Pre-test physician's feeling for the presence of HT was neither sensitive nor specific. Increasing physicians' awareness on this issue and current recommendations should limit prescriptions of HT tests while providing the best possible care for patients with VTE.