Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER

Abstract Background Rare liver diseases are associated with diagnostic delay, fragmented care, inconsistent management, and limited patient support. Patient pathways may help address these challenges by translating clinical guidance and patient priorities into practical, coordinated care processes. Main body This manuscript presents a European template for developing patient-centred pathways for rare liver diseases within ERN RARE-LIVER. The template was developed through multidisciplinary collaboration involving hepatologists, specialist nurses, patient representatives, patient organisations, and EURORDIS, and was informed by clinical guidance, patient-journey principles, and iterative expert and patient review. The proposed framework follows four phases of the patient journey: pre-diagnosis, diagnosis, management, and long-term follow-up. It includes disease-specific sections, educational resources, frequently asked questions, and “10 key questions” to support shared decision-making. Pathways for non-cirrhotic portal vein thrombosis, polycystic liver disease, and portosinusoidal vascular disorder illustrate the practical application of the template. Conclusion This European template provides a practical, adaptable framework aimed at supporting harmonised, multidisciplinary, and patient-centred care for rare liver diseases across European healthcare settings. Future work should evaluate implementation, usability, and impact on care coordination and patient experience.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2026-09-05
DOI
https://doi.org/10.1186/s13023-026-04556-3
Primary Topic
Liver Diseases and Immunity
Type
article
Field-Weighted Citation Impact
0.00

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article

Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER

Aurélie Plessier, Clémence Ramier, Renée Duijzer, Sophie Pénisson et al.
Orphanet Journal of Rare Diseases
Liver Diseases and Immunity
article

Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER

Aurélie Plessier, Clémence Ramier, Renée Duijzer, Sophie Pénisson, Joost P.H. Drenth, Alice Bertolini, Andreea Fodor, Carmen A. J. Teemer, Nagham Issa, Matt Bolz Johnson, Bogdan Procopet, Samir Patel, Ansgar W. Lohse, Virginia Hernandez-Gea, Laure Elkrief, Marco Senzolo, Sarah Raevens
article en

Abstract

Abstract Background Rare liver diseases are associated with diagnostic delay, fragmented care, inconsistent management, and limited patient support. Patient pathways may help address these challenges by translating clinical guidance and patient priorities into practical, coordinated care processes. Main body This manuscript presents a European template for developing patient-centred pathways for rare liver diseases within ERN RARE-LIVER. The template was developed through multidisciplinary collaboration involving hepatologists, specialist nurses, patient representatives, patient organisations, and EURORDIS, and was informed by clinical guidance, patient-journey principles, and iterative expert and patient review. The proposed framework follows four phases of the patient journey: pre-diagnosis, diagnosis, management, and long-term follow-up. It includes disease-specific sections, educational resources, frequently asked questions, and “10 key questions” to support shared decision-making. Pathways for non-cirrhotic portal vein thrombosis, polycystic liver disease, and portosinusoidal vascular disorder illustrate the practical application of the template. Conclusion This European template provides a practical, adaptable framework aimed at supporting harmonised, multidisciplinary, and patient-centred care for rare liver diseases across European healthcare settings. Future work should evaluate implementation, usability, and impact on care coordination and patient experience.

Orphanet Journal of Rare Diseases
European Organisation for Rare Diseases (FR), University of Padua (IT), Radboud University Nijmegen (NL), Inserm (FR), Universität Hamburg (DE), Iuliu Hațieganu University of Medicine and Pharmacy (RO), Hôpital Beaujon (FR), Ghent University Hospital (BE), Radboud University Medical Center (NL), Service de Santé des Armées (FR), Ghent University (BE), Institutul Regional de Gastroenterologie Prof. Dr. Octavian Fodor (RO), Centre Hospitalier Universitaire de Tours (FR), Assistance Publique – Hôpitaux de Paris (FR), University Medical Center Hamburg-Eppendorf (DE), Thion Medical (France) (FR), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (ES), Zentrum für Foren in der Grafischen Datenverarbeitung (DE), ERN GUARD-Heart (NL), Amsterdam University Medical Centers (NL), Economic & Social Sciences, Health Systems & Medical Informatics (FR), Institut de Recherche pour le Développement (FR), University of Amsterdam (NL)
Fonds Wetenschappelijk Onderzoek
Partnerships for the goals
Openalex Percentile: Top 12%
Liver Diseases and Immunity
DOIOpen Access PDFOpenAlex
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