Unsupervised clustering of venous thromboembolism patients by clinical features at presentation identifies novel endotypes that improve prognostic stratification.


Journal

Thrombosis research
ISSN: 1879-2472
Titre abrégé: Thromb Res
Pays: United States
ID NLM: 0326377

Informations de publication

Date de publication:
07 2023
Historique:
received: 23 02 2023
revised: 20 04 2023
accepted: 28 04 2023
medline: 5 6 2023
pubmed: 19 5 2023
entrez: 18 5 2023
Statut: ppublish

Résumé

Individuals with acute venous thromboembolism (VTE) constitute a heterogeneous group of patients with diverse clinical characteristics and outcome. To identify endotypes of individuals with acute VTE based on clinical characteristics at presentation through unsupervised cluster analysis and to evaluate their molecular proteomic profile and clinical outcome. Data from 591 individuals from the Genotyping and Molecular phenotyping of Venous thromboembolism (GMP-VTE) project were explored. Hierarchical clustering was applied to 58 variables to define VTE endotypes. Clinical characteristics, three-year incidence of thromboembolic events or death, and acute-phase plasma proteomics were assessed. Four endotypes were identified, exhibiting different patterns of clinical characteristics and clinical course. Endotype 1 (n = 300), comprising older individuals with comorbidities, had the highest incidence of thromboembolic events or death (HR [95 % CI]: 3.76 [1.96-7.19]), followed by endotype 4 (n = 127) (HR [95 % CI]: 2.55 [1.26-5.16]), characterised by men with history of VTE and provoking risk factors, and endotype 3 (n = 57) (HR [95 % CI]: 1.57 [0.63-3.87]), composed of young women with provoking risk factors, vs. reference endotype 2 (n = 107). The reference endotype was constituted by individuals diagnosed with PE without comorbidities, who had the lowest incidence of the investigated endpoint. Differentially expressed proteins associated with the endotypes were related to distinct biological processes, supporting differences in molecular pathophysiology. The endotypes had superior prognostic ability compared to existing risk stratifications such as provoked vs unprovoked VTE and D-dimer levels. Four endotypes of VTE were identified by unsupervised phenotype-based clustering that diverge in clinical outcome and plasmatic protein signature. This approach might support the future development of individualized treatment in VTE.

Sections du résumé

BACKGROUND
Individuals with acute venous thromboembolism (VTE) constitute a heterogeneous group of patients with diverse clinical characteristics and outcome.
OBJECTIVES
To identify endotypes of individuals with acute VTE based on clinical characteristics at presentation through unsupervised cluster analysis and to evaluate their molecular proteomic profile and clinical outcome.
METHODS
Data from 591 individuals from the Genotyping and Molecular phenotyping of Venous thromboembolism (GMP-VTE) project were explored. Hierarchical clustering was applied to 58 variables to define VTE endotypes. Clinical characteristics, three-year incidence of thromboembolic events or death, and acute-phase plasma proteomics were assessed.
RESULTS
Four endotypes were identified, exhibiting different patterns of clinical characteristics and clinical course. Endotype 1 (n = 300), comprising older individuals with comorbidities, had the highest incidence of thromboembolic events or death (HR [95 % CI]: 3.76 [1.96-7.19]), followed by endotype 4 (n = 127) (HR [95 % CI]: 2.55 [1.26-5.16]), characterised by men with history of VTE and provoking risk factors, and endotype 3 (n = 57) (HR [95 % CI]: 1.57 [0.63-3.87]), composed of young women with provoking risk factors, vs. reference endotype 2 (n = 107). The reference endotype was constituted by individuals diagnosed with PE without comorbidities, who had the lowest incidence of the investigated endpoint. Differentially expressed proteins associated with the endotypes were related to distinct biological processes, supporting differences in molecular pathophysiology. The endotypes had superior prognostic ability compared to existing risk stratifications such as provoked vs unprovoked VTE and D-dimer levels.
CONCLUSION
Four endotypes of VTE were identified by unsupervised phenotype-based clustering that diverge in clinical outcome and plasmatic protein signature. This approach might support the future development of individualized treatment in VTE.

Identifiants

pubmed: 37202285
pii: S0049-3848(23)00124-X
doi: 10.1016/j.thromres.2023.04.023
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

71-81

Informations de copyright

Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest P.S.W. has received research funding outside the present study from Boehringer Ingelheim, Sanofi-Aventis, Bayer Healthcare, Daiichi Sankyo Europe and Novartis and received outside the present study honoraria for lectures or consulting from Boehringer Ingelheim, Bayer HealthCare, Evonik, AstraZeneca and Sanofi Aventis. P.S.W. is principal investigator of the DIASyM research core (BMBF 161L0217A). SH and KL are employees of Bayer AG. H.T.C. received research funding outside the present study from Bayer and received outside the present study honoraria for consultation and/or advisory board participation, from Bayer, Alveron, Galapagos, Portola and Alexion. All reimbursements were transferred to the CARIM institute. HtC is a shareholder with Coagulation Profile, a university spinoff small diagnostic company not involved in the present study.

Auteurs

Alejandro Pallares Robles (A)

Clinical Epidemiology and Systems Medicine, Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University Mainz, Germany; Departments of Internal Medicine and Biochemistry, Thrombosis Expertise Center, Maastricht University Medical Center and Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.

Vincent Ten Cate (V)

Clinical Epidemiology and Systems Medicine, Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University Mainz, Germany; Preventive Cardiology and Preventive Medicine, Department of Cardiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Michael Lenz (M)

Preventive Cardiology and Preventive Medicine, Department of Cardiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Andreas Schulz (A)

Preventive Cardiology and Preventive Medicine, Department of Cardiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Jürgen H Prochaska (JH)

Clinical Epidemiology and Systems Medicine, Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University Mainz, Germany; Preventive Cardiology and Preventive Medicine, Department of Cardiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Rhine Main, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Steffen Rapp (S)

Preventive Cardiology and Preventive Medicine, Department of Cardiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Thomas Koeck (T)

Preventive Cardiology and Preventive Medicine, Department of Cardiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Rhine Main, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Kirsten Leineweber (K)

Bayer AG, Wuppertal, Germany.

Stefan Heitmeier (S)

Bayer AG, Wuppertal, Germany.

Christian F Opitz (CF)

Department of Cardiology, DRK-Kliniken Westend, Berlin, Germany.

Matthias Held (M)

Department of Internal Medicine, Medical Mission Hospital, Academic Teaching Hospital, Würzburg, Germany.

Christine Espinola-Klein (C)

Center for Cardiology-Cardiology I, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Karl J Lackner (KJ)

Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

Thomas Münzel (T)

German Center for Cardiovascular Research (DZHK), Partner Site Rhine Main, University Medical Center of the Johannes Gutenberg University Mainz, Germany; Center for Cardiology-Cardiology I, University Medical Center of the Johannes Gutenberg University Mainz, Germany; Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Stavros V Konstantinides (SV)

Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Arina Ten Cate-Hoek (A)

Departments of Internal Medicine and Biochemistry, Thrombosis Expertise Center, Maastricht University Medical Center and Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.

Hugo Ten Cate (H)

Departments of Internal Medicine and Biochemistry, Thrombosis Expertise Center, Maastricht University Medical Center and Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands; Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University Mainz, Germany.

Philipp S Wild (PS)

Clinical Epidemiology and Systems Medicine, Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University Mainz, Germany; Preventive Cardiology and Preventive Medicine, Department of Cardiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Rhine Main, University Medical Center of the Johannes Gutenberg University Mainz, Germany; Institute of molecular biology (IMB), Mainz, Germany. Electronic address: philipp.wild@unimedizin-mainz.de.

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