In this study, the authors comprehensively characterize iron overload disorders caused by SLC40A1 (ferroportin) mutations, demonstrating a broad and heterogeneous spectrum ranging from classical ferroportin disease to SLC40A1-related hemochromatosis.

This ERN RARE-LIVER Webinar on 19 May 2026 at 5pm (CEST) will be a joint webinar be-tween the ERN RARE-LIVER Vascular Liver Disease Working Group and the ERN RARE-LIVER Training and Education Working Group.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

This ERN RARE-LIVER Webinar on 21 April 2026 at 5pm (CEST) will be a joint webinar be-tween the Hepatology Committee of ESPGHAN, Hôpitaux universitaires de Genève and Hospital Vall d’Hebrón.

The conference brought together representatives from the European Commission, National Contact Points (NCPs), regional cross‑border initiatives, and the European Reference Networks (ERNs) to discuss current achievements and future challenges in cross-border healthcare.

On 27 and 28 March, ERN RARE‑LIVER coordinated the first ERN overarching workshop on Healthcare Transition in Rare Diseases in Ghent. The event brought together young patient representatives and healthcare providers from 22 ERNs to address the need for safe, structured and person‑centred transition from paediatric to adult care.

ERN RARE-LIVER Coordinator Professor Ansgar W. Lohse visited the Gastroenterology Clinic at Kauno Klinikos Hospital of the Lithuanian University of Health Sciences, where experts discussed the latest advances and collaboration in the care of rare liver disease patients.

Can we diagnose paediatric autoimmune liver disease faster and more reliably? A new European multicentre study specifically addresses this question.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

This ERN RARE-LIVER Webinar on 20 January 2026 at 5pm (CEST) will be a joint webinar between the ERN RARE-LIVER Youth Panel, Transition working group and Pregnancy working group.

A new 2025 EASL guideline outlines expert recommendations for the diagnosis and management of major vascular liver diseases, emphasising early detection, stepwise treatment strategies, and multidisciplinary care.

A new ERN RARE-LIVER position paper presents expert consensus on the use of somatostatin analogues in the management of polycystic liver disease.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

A multicentre study analyzed patients with amatoxin-induced acute liver failure from 25 centers between 2013 and 2024, comparing therapeutic plasma exchange with standard-of-care treatment.

Real-world data from the ERN RARE LIVER registry highlight current practices in PBC management and reveal opportunities to optimise care for higher-risk patients.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

A European survey by the ERN RARE-LIVER examined how Wilson disease is managed across 58 specialist centres and highlighted areas of variability in care.

This workshop will convene experts, patients, and stakeholders from across Europe to shape collaborative standards for transitioning rare disease care from paediatric to adult care.

Early cirrhosis detection and treatment response are crucial prognostic indicators in AIH, according to a recent systematic review.

A new multicentre study evaluates the prognostic value of liver stiffness measurement in PBC, highlighting its role in predicting hepatic decompensation independently of biochemical response.

A systematic review by ERN RARE-LIVER outlines current evidence and clinical recommendations for managing fatigue in PBC patients.

Join this interactive session to gain expert-guided insights into the clinical management of complex paediatric liver cases within CPMS.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

On September 4–5, 2025, the consortium of the European project RiTA (Porto Sinusoidal Vascular Disease: Risk Stratification & Therapeutic Approaches) held its in-person meeting in Barcelona, bringing together researchers from multiple disciplines and representatives of patient associations.

A workshop in Warsaw brought together clinicians, researchers, and patient representatives to advance the implementation of quality of life assessment for people with Primary Sclerosing Cholangitis (PSC).

This ERN Liver Talk on 25 November 2025 at 5pm (CET) will be a collaboration with the ERN RARE-LIVER Working Groups: Liver Disease in Pregnancy, Transition, Youth Panel, & European Patient Advocacy Group (ePAG).

The Baveno VIII Paediatric Symposium (Disease Specific Issues in Natural History and Management) on 29 March 2026 will focus on the management of portal hypertension in children.

The ERN RARE-LIVER Clinical Exchange Programme offers clinicians and healthcare professionals the opportunity to gain experience and share knowledge across member and partner centres, fostering collaboration and improving care for patients with rare liver diseases.

The second CPMS 2.0 Live Case Discussion examined a complex vascular liver disease case, offering valuable insights into acute PVT management and demonstrating the strength of shared expertise.

This ERN RARE-LIVER Nurses Webinar on 11 November 2025 at 5pm (CET) will be a webinar from the ERN RARE-LIVER Nurses Working Group.

The ERN RARE-LIVER Registry has been expanded and is now available for new data entry.

Join this interactive session to gain expert-guided insights into the clinical management of complex liver cases within CPMS.

The new app makes it easier to access and follow clinical case discussions anytime, anywhere. This marks a key step in the ongoing development of CPMS 2.0.

This multicenter retrospective study evaluated infliximab in 42 patients with autoimmune hepatitis (AIH) unresponsive to standard therapies or with concurrent autoimmune diseases.

Information about the morbidity and mortality associated with abdominal surgery in patients with non-cirrhotic extrahepatic portal vein occlusion (EHPVO) is scarce.

The ALBI France Association and the Fondation Maladies Rares have launched a 2025 research call to support biomedical projects focused on LPAC syndrome.

We are excited to announce that ERN RARE-LIVER has officially launched its Instagram account! Follow us for the latest updates, insights, and behind-the-scenes content from the world of rare liver diseases.

We are happy to release the updated Wilson disease guideline which is the results of EASL-ERN RARE-LIVER collaborative work with endorsement of ESPGHAN. The value of the guideline is methodology which strictly followed EASL guidelines how to write guidelines. The update introduced several novelties.

Key insights from the ERN RARE-LIVER workshop on healthcare transition, focused on improving the transfer from paediatric to adult care.

ERN RARE-LIVER has released its first R-LIVER Bulletin, providing regular updates on the latest data and developments related to the ERN RARE-LIVER registry (R-LIVER). For subscriptions or further information, please contact the ERN Office.

The next ERN RARE-LIVER Online Meeting will take place on 22 October 2025. An official time and information on the agenda will follow shortly. For questions and further details please contact the office.

The new CPMS (Clinical Patient Management System) 2.0 is now fully available, offering new features and improvements to enhance the user experience. ERN RARE-LIVER will also be launching the CPMS Live Case Discussion Series, starting in June 2025.

The Polish presidency of the Council of the European Union together with the European Economic and Social Committee (EESC), and the Medical University of Warsaw organise the conference "Towards an EU Action Plan on Rare Diseases".

The DeCODe project, co-funded by the European Commission EU4Health programme, aims to address these challenges by accelerating the development of essential medical devices. The project aims to enhance the quality of care for children living with rare diseases, ultimately transforming paediatric rare disease healthcare.

As part of a research initiative on de novo autoimmune hepatitis in paediatric and adult transplant patients, physicians are invited to participate in a brief pre-survey. Your expertise and experience in this area is vital to this process.

FILFOIE has announced a leadership change as part of a relabeling for the next five years. Aurélie Plessier and Emmanuel Gonzales will now lead the sector’s coordination team as successors to Olivier Chazouillères, who led the sector for 10 years.

Some of our patient representatives were present at the ERN RARE-LIVER Members Meeting in Barcelona on 23-24 January. They gave an update on the group and presented projects from their patient organisations

The Hepaturix Association in Portugal is currently developing a new project and is organising several events as part of this in 2025. In addition to the Hepaturix Association, the Paediatric Hospital of Coimbra and members of our ERN RARE-LIVER Youth Panel are involved as well.

Thank you for taking the time to read about this research study exploring the "Barriers to sexual function assessment in patients with liver disease and liver transplantation by healthcare professionals". It was created as part of research on the above topic at Kings College Hospital, London, UK.

The ERN RARE-LIVER survey on dietary habits of individuals living with PSC and IBD was open until 8 June and is now closed. Updates will be shared once results are available. Thank you to everyone who contributed — each response helps advance knowledge in this important area.

Please collaborate with the European ERN RARE-LIVER Wilson Group by answering this anonymous survey on pregnancy and contraception for Wilson Disease Women. Thank you for your collaboration!

Please collaborate with the European ERN RARE-LIVER Wilson Group by answering this anonymous survey on pregnancy and contraception for Wilson Disease Women. Thank you for your collaboration!

The marketing authorisation for Ocaliva was finally revoked by the European Medicines Agencys (EMA) after the EMA had already recommended revoking Ocaliva’s marketing authorization in June 2024. It says the benefits of Ocaliva are no longer considered to outweigh its risks

This ERN RARE-LIVER template aims to improve the communication and information transfer from paediatric services to the adult department, facilitating a smoother transition of care for patients.

In order to ensure transparency within the actions of ERN RARE-LIVER, we disclose possible conflicts of interest of our members and partners.

Non-invasive liver fibrosis surrogates are superior to lung parameter for prediction of organ-related outcomes. Liver disease progresses primarily in those individuals with risk factors/signs of liver injury.

PortoSinusoidal Vascular Disorder: Risk stratification & Therapeutic Approaches (RiTA)

To discuss and reorganise the activities within the ERN RARE-LIVER ePAG group, those responsible leads met in Paris at the end of October. Many ideas were exchanged and concrete action steps were defined.

In this position paper, an international panel of experts representing oncology, hepatology, pathology, radiology, surgery, and molecular biology has summarised the available information and evidence on the pathogenesis, diagnosis, and treatment of rare PLCs.

Our patient representative Frank shares his impressions.

Social determinants of health (SDOH) are the conditions in which people are born, grow up, work and age. Studies suggest that SDOH influence the course of liver disease. However, this has not yet been studied in patients with autoimmune liver disease.

Porto-sinusoidal vascular liver disorder (PSVD) is a rare liver condition that often leads to severe complications from portal hypertension and can reduce life expectancy.

On 13 September 2024, a meeting of the Gastrointestinal Drugs Advisory Committee took place at which supplemental New Drug Application (sNDA) 207999 S-011, for OCALIVA (obeticholic acid) was discussed. The meeting was open to the public and was streamed live on the official FDA YouTube channel.

Please watch our new video describing Veselinas path and experience with the right treatment of her diagnosis.

We are pleased to announce an Open Call for all ERN RARE-LIVER members to propose a fellow within their institution to be part of the ERN RARE-LIVER CPMS Helpdesk team. The aim is to include three different young fellows from three different member centres, and to have both paediatric and adult representation.

ERN RARE-LIVER has constructed the survey “Counselling Young Adults With Liver Disease On Alcohol Use”. The survey will be open until 8 September, 2024. It consists of max. 10 pages and it will take 10 to 15 minutes to respond.

JARDIN is a Joint Action (JA) created to achieve the integration of European Reference Networks (ERNs) into National Healthcare Systems.

The ERN RARE-LIVER plans to fund workshops of disease working groups and other initiatives in 2025.

On 28 June 2024, the European Medicines Agency (EMA) recommended revoking Ocaliva’s marketing authorization, citing that its risks outweigh the benefits.

Unexplained cases of acute liver inflammation in children, especially in the United Kingdom (UK) were reported earlier this year. In response, the European Reference Network on Hepatological Diseases (ERN RARE-LIVER) conducted a thorough investigation that did not confirm the alarming observation from the UK in other European countries.

The advent of enhanced radiological imaging techniques has facilitated the diagnosis of cystic liver lesions and concomitantly, the evidence base supporting the management of these diseases has matured over the last decades.

There has been concern regarding the frequency of unexplained cases of acute liver inflammation in children, especially in the United Kingdom (UK). In response, the European Reference Network on Hepatological Diseases (ERN RARE-LIVER) decided to conduct a thorough investigation. Conclusions from a survey conducted over 34 paediatric specialist liver centers from 22 European countries do not confirm the alarming observations from the UK in other European countries.

In many countries booster vaccinations have become available, and therefore patients and families ask questions as to whether and when to receive a booster vaccine. As the evidence is scarce, and even more so in the field of rare diseases, it is not simple to give sound and scientifically based advice. Furthermore, availability of vaccines may differ. It remains a priority to vaccinate all unvaccinated at-risk people. Nonetheless, here we give some recommendations to the best of our knowledge as of November 2021:

The second ERN RARE-LIVER Quality of Life (QoL) meeting began in Copenhagen on Friday 2 July. The meeting was held in a hybrid format with 11 on-site participants and additional online participants. The speakers were mainly from the Baltic Sea countries and we also welcomed participants from the United Kingdom and the Netherlands. There were both live and online talks on both days, followed by group discussions with the aim of capturing the most central issues raised and identifying potential future areas to elaborate upon, both clinically and scientifically. Many thanks to the organisers, Marianne Hørby, Henning Grønbæk and Henriette Ytting, and to all who participated.

Patients living with rare liver diseases are strongly encouraged to get vaccinated against COVID-19! This includes patients with decompensated liver disease and any rare liver disease such as PBC, PSC, AIH, vascular liver diseases, patients waiting for liver transplant and patients post-transplant. The vaccines appear safe. Talk to your healthcare provider if you are worried or unsure.

When a patient was presented to our Hepatology Department by the Maternity Clinic in Hamburg with an unusual cause of elevated ALP, opening a panel in CPMS allowed a case discussion which helped us to confirm the origin of the extremely high elevated ALP, and to estimate the risk to the mother and the unborn child. Continue for the full case report.

In collaboration with our patient representatives, we have produced a lay summary of the position paper, published recently as a result of the collaboration between the European Reference Network on Hepatological Diseases (ERN RARE-LIVER) and the International Autoimmune Hepatitis Group.

The ERN Quality of Life (QoL) Workshop took place in Warsaw on September 22nd, 2020. The meeting was organized by our Warsaw colleagues Prof. Piotr Milkiewicz who coordinates ERN QoL Task Force and Dr. Maciej Janik, as well as by Prof. Ansgar W. Lohse and the ERN RARE-LIVER coordination team from Hamburg.