Background: Inherited AT deficiency (ATD) is associated with a 16-fold risk of venous thromboembolism (VTE) and arterial thrombotic events (ATE). In ATD, the association of clinical data (thrombotic history, anticoagulant treatment, recurrence risk) with genetic characterization of SERPINC1 and ATD type are scarce. These data would be useful to optimize the antithrombotic management in ATD.
Aims: To describe thrombotic events, anticoagulant treatment and outcomes of patients with ATD, according to the deficiency type and SERPINC1 sequence gene variations.
Methods: Retrospective cohort study with inherited ATD genetically characterized (SERPINC1 gene analysis) with clinical and laboratory data reported in a standardized form. Quantitative variables were expressed as medians [25th-75th percentiles] and categorical variables as percentages on available data.
Results: From 2000 to 2021, we included 63 patients (31 [24-52] years; 53% men; 20.9 % with BMI >30kg/m2), of whom 26.7% had a first-degree family history of thrombosis. Fifty-three (80.3 %) patients had a personal history of thrombosis. Type I ATD was the most frequent (59.0%) and all had a thrombosis history (Figure1). First thrombotic event occurred at 30 yo [21-42] comprising VTE (88.7%) and ATE (11.3%). Median follow-up since the first thrombotic event was 53.7 months [25.4-144.8]. Initial antithrombotic therapy (median 6.1 months [3.1-7.6]) was stopped after the first event in 44.7% patients. Patients with a long-term treatment were notably on DOAC (36.0%) or vitamin K antagonist (44.0%). Thrombotic recurrence occurred in 23 patients (43.4%) mainly type 1 ATD (Figure 1), 17.4% were still on aspirin, 8.7% on DOAC, 4.3% on LMWH and 69.6% had no antithrombotic therapy.
Conclusion(s): We report high thrombotic recurrence risk in ATD patients, particularly in type I. Our study suggests that ATD type and SERPINC1 gene analysis is useful to predict thrombotic risk in ATD patients and could guide antithrombotic course duration to prevent thrombotic recurrence in selected patients.
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Repartition of antithrombin deficiency type according with patients’ thrombotic profile
To cite this abstract in AMA style:
Khider L, DELRUE M, Mirault T, Gendron N, Sanchez O, Planquette B, Darnige L, Gandrille S, STEPANIAN A, Smadja D, Messas E, SIGURET V, Mauge L. Thrombotic profile according to antithombin deficiency and SERPINC1 gene analysis: a French retrospective cohort study. [abstract]. https://abstracts.isth.org/abstract/thrombotic-profile-according-to-antithombin-deficiency-and-serpinc1-gene-analysis-a-french-retrospective-cohort-study/. Accessed September 29, 2023.« Back to ISTH 2022 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/thrombotic-profile-according-to-antithombin-deficiency-and-serpinc1-gene-analysis-a-french-retrospective-cohort-study/