OC 60.2 - Impact of thrombophilia testing on treatment decision and outcome of thromboembolism and pregnancy morbidity: a single center retrospective cohort study

Tuesday, July 12, 2022

3:00 PM – 3:15 PM

Location: ExCel Center, ICC Auditorium

Presentation Format: In-Person

Presenting Author(s)

Kristina Vrotniakaite-Bajerciene, MD

Resident
Bern University Hospital
Bern, Bern, Switzerland

Co-Author(s)

Tobias Tritschler, MD, MSc

MD, MSc
Department of General Internal Medicine, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Bern, Bern, Switzerland
KJ

Katarzyna Aleksandra Jalowiec

Hematologist
Bern University Hospital, Department of Hematology and Central Hematology Laboratory
Bern, Bern, Switzerland
HB

Helen Broughton

Medical student
Bern University Hospital, Department of Hematology and Central Hematology Laboratory
Bern, Bern, Switzerland
JB

Justine Brodard

Master of biomedical sciences
Bern University Hospital, Department of Hematology and Central Hematology Laboratory
Bern, Bern, Switzerland
AH

Alan Haynes

Statistician
Bern University, CTU Bern
Bern, Bern, Switzerland
AR

Alicia Rovo

Hematologist
Bern University Hospital, Department of Hematology and Central Hematology Laboratory
Bern, Bern, Switzerland
JK

Johanna A. Kremer-Hovinga

Professor
Centre of Laboratory Medicine Section Hemostasis Inselspital Bern
Bern, Bern, Switzerland
DA

Drahomir Antonin Aujesky

Physician-in-Chief
Bern University Hospital, Department of General Internal Medicine
Bern, Bern, Switzerland
AA

Anne Angelillo-Scherrer

Physician-in-Chief
Bern University Hospital, Department of Hematology and Central Hematology Laboratory
Bern, Bern, Switzerland

Background: Clinical utility of thrombophilia testing remains a topic of controversy since its introduction in clinical practice, because data showing its clinical usefulness and benefits for clinical decision-making are limited.

Aims: To investigate the impact of thrombophilia work-up on treatment decisions and recurrence of venous and arterial thromboembolic event and pregnancy morbidity in an observational study of unselected patients.

Methods: We conducted a single-center retrospective cohort study of 3686 patients referred for thrombophilia consultation at the Bern University Hospital (Switzerland) from January 2010 to October 2020. Results of thrombophilia work-up, and clinical and laboratory data were recorded. We studied the impact of thrombophilia testing results on treatment decisions according to guidelines and documented thromboembolic and pregnancy morbidity event after thrombophilia testing up to March 2021.

Results: In 3550 patients (94%), a partial or full thrombophilia testing was performed and 1258 patients (28.9%) displayed at least one thrombophilia (Figure 1A). Most patients were tested because of venous thromboembolism (2407, 65%), followed by patients with arterial thromboembolism (591, 16%) and with pregnancy morbidity (121, 3.3%). 341 asymptomatic subjects (30%), mainly patient family members, were also included.

Only 211 (5.7%) work-ups provided further guidance to extend, initiate or stop anticoagulation (Table 1).

2565 patients (70%) were followed-up more than 30 days with a median follow-up of 48 months (1 – 183 months). Patients with high-risk thrombophilia had significantly more new venous thromboembolic events and new pregnancy morbidity compared to those without any thrombophilia or with low-risk thrombophilia (Figure 1B).

Conclusion(s): Our study demonstrates the limited usefulness of thrombophilia work-up on clinical decision-making on all types of index thromboembolic events, pregnancy morbidity and asymptomatic family members. Selection criteria to identify high-risk thrombophilia must be improved.