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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.

The rare disease community comes together in calling on the EU institutions and our national governments to stand by the European Reference Networks.

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

This ERN RARE-LIVER Webinar on 25 June 2024 at 5 pm will focus on liver cyst infection, the feared complication of cystic liver disease.

Congratulations to Pierre-Emmanuel Rautou and colleagues for their successful COST Action application! 134 researchers from 27 countries put together the EURO-VALDI-NET project on vascular liver diseases.

Many thanks to all members and friends who visited us at EASL again this year for the interesting discussions and inspiring conversations.

The UEG (United European Gastroenterology) is offering clinical visiting fellowships to young doctors. You can apply to visit a European centre of excellence from a given list of hosts including a number of ERN RARE-LIVER members.

Your liver is an incredible organ, performing more than 500 vital functions, such as filtering toxins and aiding in digestion and metabolism. Yet, liver health is often overlooked. Each year, thousands of people are affected by liver disease. 1.5 billion people live with chronic liver disease, and 2 million lives are lost yearly. Early prevention can save many of these lives.

This ERN RARE-LIVER Webinar on 9 April 2024 at 5pm will focus on liver involvement in patients with Fontan-type circulation. Fontan-associated liver disease is an orphan, novel, and challenging chronic liver disorder that appear in patients with univentricular cardiac malformations treated with Fontan surgery. ERN and EASL have recently launched a position document focusing on management of this particular and fragile population. We consider that the diffusion of this document conclusions is an unmet need that should be addressed.

These tips are a team effort by Aida Regi Cosculluela and Dr Wiebke Papenthin, named patient representatives of the ERN RARE-LIVER Wilson working group and the ERN Youth Panel.

The last meeting of the Patient Representatives took place on 19 February 2024.

The UEG (United European Gastroenterology) is offering clinical visiting fellowships to young doctors. You can apply to visit a European centre of excellence from a given list of hosts including a number of ERN RARE-LIVER member. This programme allows fellows

The European Commission praised the University Medical Center Hamburg-Eppendorf (UKE) and ERN RARE-LIVER for their outstanding performance in rare liver diseases.

Congenital portosystemic shunts are often associated with systemic complications, the most challenging of which are liver nodules, pulmonary hypertension, endocrine abnormalities, and neurocognitive dysfunction.

Following the previous successful iterations in Hamburg, Newcastle, Vienna and Maastricht, this in-person workshop focussed on advancing research in AIH, strengthening existing networks and building new ones.

Fontan Circulation CLASSROOM COURSE LIVE STREAMING BROADCAST

The graphic illustrations of various liver diseases presented at the Members Meeting have now been translated into various languages, e.g. Italian. We would be happy to translate and layout these helpful illustrations of various liver diseases into other languages of our Member Centres. Just let the office know what you need.

On 11 and 12 December, the Management Board of ERN RARE-LIVER met in Hamburg to discuss the network's strategy for the next 4 years, the period covered by the next grant.

ERN RARE-LIVER and the CPMS helpdesk team would like to thank all ERN member centres for their commitment and effort in contributing to the Clinical Patient Management System (CPMS).

This ERN RARE-LIVER Webinar on 12. December 2023 at 5pm gave an exciting update to the Alpha-1 antitrypsin deficiency. The presentation covered "siRNA therapy in hepatology: a1-AT deficiency". The download for the Webinar on EASL Campus will follow soon.

What was going on in the various Working Groups of ERN RARE-LIVER in the last months? At this year's Members' Meeting in Hamburg, most of the working groups gave a brief overview of their activities and what they had achieved in the past 12 months.

Autumn starts with new virus variants and a new vaccine - what do patients with rare liver diseases need to bear in mind?

It was a great pleasure for the ERN RARE-LIVER office team to welcome all of you at this year’s Members’ Meeting in Hamburg.

Biliary Atresia (BA) is a rare paediatric liver disease with an estimated prevalence of 1 / 14.000-21.000 births in Europe (~ 270 cases / year). Its aetiology is still unknown but recent studies favour an aetiology through microbe- or toxin-triggered immune dysregulation in liver and bile ducts leading to obliteration and fibrosis.

This workshop took place 28 - 29 August in Padua discussing the impact of IBD activity on PSC and risk of colorectal cancer, treatment specificities in PSC-IBD, IBD course before and after liver transplantation and Pouchitis and pouch failure in PSC-IBD.

The INTERNATIONAL EXPLORATORY WORKSHOP supported by ERN RARE-LIVER, the Vascular Liver Diseases (VLD) Working group and VALDIG was an excellent opportunity to discuss and expand the possibilities of joint collaboration.

The INTERNATIONAL EXPLORATORY WORKSHOP supported by ERN RARE-LIVER, the Vascular Liver Diseases (VLD) Working group and VALDIG was an excellent opportunity to discuss and expand the possibilities of joint collaboration.

Interesting talks and lectures at EASL CONGRESS in Vienna. Many of our members were involved as speakers doing presentations, talks and discussions, presenting cases to a wide audience of more than 8400 visitors registered. Ida Schregel had an excellent talk

Aida Regi from Spain was diagnosed with Wilson’s disease with neurological symptoms at the age of 13 and now has 25 years of experience living with Wilson’s disease.Aida is a Board member of the Spanish Association of Patients with Wilson’s

We had the last WG meeting within ESPGHAN Wednesday with a fully occupied room. We will have a new structure with ESPGHAN in the future, and this was discussed at the meeting. We also discussed ongoing projects with paediatric interest

Carmen Teemer from Engstingen in Germany is our second new Patient Representativ.Working as a speech therapist, she is familiar with anatomy, medical terms and diseases that lead to speech and swallowing disorders.Carmen has been diagnosed with ADPKD and PLD in

The PLD workgroup met on June 6 in Nijmegen, the Netherlands. During the program physicians, researchers and patient associations discussed the most recent PLD guidelines, the disease's impact on HRQoL and the current management options with their limitations.

A workshop organised by the ERN RARE-LIVER Transition of Care working group, funded by the Networking Support Scheme of the European Joint Programme on Rare Diseases.

From 1 to 2 June, this workshop brought together 30 international experts from 10 different nations and highlighted the role of ERN RARE-LIVER as a collaborative network and registry platform for rare diseases such as AIH. Scientists and clinicians discussed the topic of Autoimmune Hepatitis.

On the Young Investigator Workshop on Basic Science and Translational Immunology in PSC on 25 to 26 May in Hamburg, young researchers fruitfully discussed the latest cutting-edge research and ideas at a joint meeting with the international PSC study group.The

Alveolar Echinococcosis (AE) is a rare parasitic disease caused by the infection with the larval stage of the Echinococcus multilocularis tapeworm, known to be endemic in the northern hemisphere, mainly in central Europe and western China.

Friutfull 1st International Workshop on Future Therapies in Autoimmune Hepatitis with experts from various different scientific fields. The outstanding success of this workshop was the cooperation not only of clinicians but also of biostatisticians, patient advocates and medical officers from the FDA.

Biliary Atresia (BA) is a rare liver disease of infancy with unclear etiology potentially leading to biliary cirrhosis and liver failure in early life. BA is still one of the main indications for paediatric liver transplantation. To meet this need, the prospective ERN RARE LIVER Biliary Atresia Registry (EBAR) was implemented in the up-and-running R-LIVER registry.

The workshop will foster international networking between participants and will present a forum to discuss ongoing research projects together with internationally recognized experts in basic science and immunology.

In order to assess the usage of "unconventional treatment" for autoimmune hepatitis (AIH) in our ERN community, we would like to perform an online survey to collect the experiences with these new treatments in our patients. We define "unconventional treatment" as new agents that have not been defined as 2nd or 3rd line treatment for AIH in the past and are used more in the fields of dermatology, rheumatology or inflammatory bowel disease.

The European Commission in cooperation with ECORYS, one of the oldest economic research and consulting companies in Europe, had launched a Clinical Exchange Program to share knowledge and stimulate collaborations between healthcare professionals within the ERNs.

On 22 and 23 November, representatives from children's hospitals in Spain, Germany, UK and Denmark met for a networking and working meeting at Rigshospitalet, where they jointly took the first step toward establishing a protocol for the treatment of children with acute liver failure in the five European centres involved.

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.

We would like to draw your attention to the new EASL Clinical Practice Guideline on Sclerosing Cholangitis, which has been published in June 2022. We are grateful to all the authors and panelists, most of them from ERN centres.

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.

There is some good news to share from the Quality of Life Working Group. They presented a poster on its two major projects at the online European Conference on Rare Diseases and Orphan Products in May. The projects are the

Information for all patients with rare liver diseases (and, in case of children, their parents) Corona is not only dominating the media, Corona is increasingly in the mind of many of you worrying about vulnerability as a liver disease patient.

Lorenzo D’Antiga, MD Paediatric Hepatology, Gastroenterology and Transplantation Hospital Papa Giovanni XXIII, Bergamo Italy Following the outbreak in China, the Lombardy region of Italy has become one of the areas of highest incidence of severe acute respiratory syndrome Coronavirus 2

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.

This is an exciting time for those interested in ɑ1-antitrypsin deficiency (AATD): a greater understanding of the science underpinning pathophysiological mechanisms is translating into trials of innovative therapies, and knowledge about the role of augmentation therapy is changing with the