PB0954 - Thrombotic profile according to antithombin deficiency and SERPINC1 gene analysis: a French retrospective cohort study.

Monday, July 11, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Co-Author(s)

LK

Lina Khider

Vascular medicine
HEGP
Paris, Ile-de-France, France
MD

Maxime DELRUE

Clinician
AP-HP.Nord / University of Paris
75010, Ile-de-France, France
TM

Tristan Mirault

Vascular medicine
HEGP
Paris, Ile-de-France, France
Ng

Nicolas gendron, PharmD, PhD

Clinical fellow
AP-HP
Paris, Ile-de-France, France
OS

Olivier Sanchez

MD, PhD
Georges Pompidou European Hospital, Paris, France
Paris, Ile-de-France, France
BP

Benjamin Planquette

Physician MD
APHP
Paris, Ile-de-France, France
LD

Luc Darnige

Dr
Hematology, HEGP, Paris
Paris, Ile-de-France, France
SG

Sophie Gandrille

PharmD, PhD
Service d’Hématologie biologique, AP-HP, Hôpital européen Georges-Pompidou, F-75015, Université Paris Cité, Inserm U1140, F-75006 Paris, France
Paris, Ile-de-France, France
AS

Alain STEPANIAN

Clinical pathologist
Lariboisière hospital / University of Paris
Paris, Ile-de-France, France
DS

David M. Smadja

Professor
Université Paris Cité, INSERM U1140, Innovative Therapies in Haemostasis, France
Paris, Ile-de-France, France
EM

Emmanuel Messas

Professor
Vascular Medicine, HEGP, Paris
Paris, Languedoc-Roussillon, France
VS

Virginie Siguret, PhD, PharmD

PharmD PhD, Professor in Hematology
INSERM UMR-S-1140, Innovative therapies in Haemostasis, Université Paris Cité, Paris
Paris, Ile-de-France, France

Presenting Author(s)

Laetitia Mauge, PharmD PhD

PharmD, PhD
Service d’Hématologie biologique, AP-HP, Hôpital européen Georges-Pompidou, F-75015, Université Paris Cité, Inserm, PARCC, F-75015 Paris, France
Paris, Ile-de-France, France

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.