Orphanet Journal of Rare Diseases | ERN RARE-LIVER Constructs a European Patient Care Pathway Template for Rare Liver Diseases

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This study provides a standardized framework for the early diagnosis and long-term management of rare liver diseases, highlighting the need to prioritize patient-reported outcomes and the establishment of multidisciplinary collaboration models in translational research.

 

Overview of the Literature

This article, "Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER," published in the Orphanet Journal of Rare Diseases, systematically explores the patient care pathway template for rare liver diseases developed under the leadership of the European Reference Network for Rare Liver Diseases (ERN RARE-LIVER). The article reviews the challenges faced by rare liver diseases, including diagnostic delays, fragmented care, and insufficient patient support. It details how the template constructs a standardized process covering four stages—pre-diagnosis, diagnosis, management, and long-term follow-up—by integrating clinical guidelines with patient priorities.

Background Knowledge

This study primarily addresses the pain points of diagnostic delays and fragmented care in rare liver disease patients caused by low disease awareness. Currently, there is a lack of unified clinical operational pathways for specific targets or disease subtypes such as non-cirrhotic portal vein thrombosis and polycystic liver disease, leading to significant variations in treatment plans across different medical institutions. Furthermore, existing guidelines often overlook patients' quality of life and psychosocial burdens. The entry point of this article is to break the limitations of traditional approaches focusing solely on biological indicators. By introducing the deep involvement of Patient Experts and Patient Advocacy Organizations (PAOs), patient experience is incorporated into core decision-making, aiming to establish a multidisciplinary collaboration model that is both evidence-based and highly operational.

 

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Research Methods and Core Experiments

This study did not employ traditional animal models or in vitro experiments but was based on large-scale multidisciplinary collaboration and consensus-building methods. The research team first established a core working group composed of liver disease experts, specialist nurses, patient representatives, and patient organizations, collaborating with EURORDIS for methodological guidance. The team systematically reviewed literature on patient pathways and rare disease care coordination from 2000 to 2024 and mapped current care process maps to identify key delays and gaps. Subsequently, based on existing clinical guidelines and best practices, an ideal pathway was drafted and underwent multiple rounds of iterative review, including scientific review by the Vascular Liver Diseases Group (VALDIG) and usability assessment by patient organizations. Finally, the framework was applied to the development of specific pathways for non-cirrhotic portal vein thrombosis, polycystic liver disease, and sinusoidal vascular diseases.

Key Conclusions and Perspectives

• A general template containing four stages (pre-diagnosis, diagnosis, management, long-term follow-up) was developed, significantly improving the coordination and consistency of rare liver disease care.
• The pathway innovatively incorporates a "10 Key Questions" checklist and Frequently Asked Questions (FAQ), directly empowering patients to participate in shared decision-making and improving the quality of doctor-patient communication.
• It emphasizes the inclusion of health-related quality of life, lifestyle recommendations, and genetic risk counseling in standard pathways, filling the gap in psychosocial support in traditional guidelines.
• A mechanism for updating every three years has been established to ensure that pathway content can dynamically adapt to new discoveries in disease mechanisms and updates in clinical guidelines.

Research Significance and Outlook

From a research perspective, the release of this template provides a standardized reference for patient recruitment and follow-up pathways in rare disease drug development, helping to improve compliance and data quality in clinical trials. In terms of clinical monitoring, it promotes a shift from single disease indicators to comprehensive patient-reported outcomes (PROs). Regarding disease modeling, this framework demonstrates how to transform complex clinical guidelines into executable digital workflows, laying a solid foundation for establishing rare liver disease registry systems based on real-world data in the future.

 

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Conclusion

The European patient care pathway template for rare liver diseases proposed in this article marks a significant paradigm shift in rare disease management from "disease-centered" to "patient-centered." By systematically integrating the wisdom of clinical experts with the authentic experiences of patients, this framework not only addresses the long-standing issues of diagnostic delays and care discontinuity in the field of rare liver diseases but also provides a replicable model for the construction of rare disease care systems globally. For researchers, understanding and applying this pathway helps to more accurately identify patient needs in the early stages of drug development, optimize clinical trial design, and ultimately promote the success of translational research. In the future, with the integration of digital medical tools, this pathway is expected to further break geographical barriers and achieve true global precision medicine.

 

Sarah Raevens, Renée Duijzer, Andreea Fodor, Joost P H Drenth, and Aurélie Plessier. Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER. Orphanet Journal of Rare Diseases.