Key result
Thrombophilia testing led to appropriate anticoagulation decisions in only 6% of 3,550 patients, demonstrating limited clinical usefulness despite high-risk cases having more thromboembolic events.
Why the study?
Thrombophilia testing utility has remained controversial due to limited data on its influence on treatment decisions.
Does thrombophilia testing influence treatment decisions and predict subsequent thromboembolic or pregnancy-related events in patients referred for consultation?
Cohort (n=3,550)
No
Does thrombophilia testing influence treatment decisions and predict subsequent thromboembolic or pregnancy-related events in patients referred for consultation?
Thrombophilia testing has limited utility in clinical decision-making for anticoagulation, though high-risk thrombophilia remains a predictor for subsequent venous thromboembolism and pregnancy-related morbidity.
Answers are grounded in this paper and cite their sources.
Thrombophilia testing rarely influenced anticoagulation decisions appropriately; leaves open its prognostic role in high-risk cases for prospective validation.
(1) Background: Thrombophilia testing utility has remained controversial since its clinical introduction, because data on its influence on treatment decisions are limited. (2) Methods: We conducted a single-center retrospective cohort study of 3550 unselected patients referred for thrombophilia consultation at the Bern University Hospital in Switzerland from January 2010 to October 2020. We studied the influence of thrombophilia testing results on treatment decisions and evaluated the association between thrombophilia and thromboembolic and pregnancy-related morbidity events after testing up to 03/2021. (3) Results: In 1192/3550 patients (34%), at least one case of thrombophilia was found and 366 (10%) had high-risk thrombophilia. A total of 211/3550 (6%) work-ups (111/826 (13%) with low-risk thrombophilia and 100/366 (27%) with high-risk thrombophilia) led to an appropriate decision to extend or initiate anticoagulation, and 189 (5%) negative results led to the withholding of anticoagulation therapy inappropriately. A total of 2492 patients (69%) were followed up for >30 days, with a median follow-up of 49 months (range, 1−183 months). Patients with high-risk thrombophilia had a higher risk of subsequent venous thromboembolic events and pregnancy-related morbidity compared to those without thrombophilia. (4) Conclusions: Our study demonstrated the limited usefulness of thrombophilia work-up in clinical decision-making. High-risk thrombophilia was associated with subsequent venous thromboembolism and pregnancy-related morbidity.
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Vrotniakaite-Bajerciene et al. (2022) conducted a cohort in Thrombophilia (n=3,550). Thrombophilia testing vs. No thrombophilia was evaluated on Influence on treatment decisions. Thrombophilia testing led to appropriate anticoagulation decisions in only 6% of 3,550 patients, demonstrating limited clinical usefulness despite high-risk cases having more thromboembolic events.
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