Thrombophilia Impact on Treatment Decisions, Subsequent Venous or Arterial Thrombosis and Pregnancy-Related Morbidity: A Retrospective Single-Center Cohort Study.
Kristina Vrotniakaite-Bajerciene, Tobias Tritschler, Katarzyna Aleksandra Jalowiec, Helen Broughton, Justine Brodard, Naomi Azur Porret, Alan Haynes, Alicia Rovo, Johanna Anna Kremer Hovinga, Drahomir Aujesky, Anne Angelillo-Scherrer
Author Information
Kristina Vrotniakaite-Bajerciene: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland. ORCID
Tobias Tritschler: Department of General Internal Medicine, Bern University Hospital, 3010 Bern, Switzerland. ORCID
Katarzyna Aleksandra Jalowiec: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland.
Helen Broughton: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland.
Justine Brodard: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland. ORCID
Naomi Azur Porret: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland.
Alan Haynes: Clinical Trials Unit Bern, University of Bern, 3012 Bern, Switzerland. ORCID
Alicia Rovo: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland. ORCID
Johanna Anna Kremer Hovinga: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland. ORCID
Drahomir Aujesky: Department of General Internal Medicine, Bern University Hospital, 3010 Bern, Switzerland.
Anne Angelillo-Scherrer: Department of Hematology and Central Hematology Laboratory, Bern University Hospital, 3010 Bern, Switzerland. ORCID
(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.