Paediatric autoimmune liver disease in Europe, the prospective ERN R-LIVER registry
Mikkel Malham1, Gema Muñoz Bartolo2, Antal Dezsöfi-Gottl3
1Department of Paediatric and Adolescent Medicine, Department of Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Paediatric and Adolescent Medicine, Copenhagen University Hospital - Amager & Hvidovre, Copenhagen, Denmark; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Hamburg, Germany.
Insights
Short-term survival for paediatric autoimmune liver disease (p-AILD) is excellent. However, less than half of patients achieve remission, highlighting the need for better treatment strategies for autoimmune hepatitis (AIH) and autoimmune sclerosing cholangitis (ASC).
Area of Science:
- Hepatology
- Immunology
- Paediatric Gastroenterology
Background:
- Paediatric autoimmune liver disease (p-AILD) literature is limited to retrospective studies.
- Real-world data on p-AILD outcomes in the first year post-diagnosis is needed.
Purpose of the Study:
- To describe robust, real-world data for p-AILD in the first year after diagnosis.
- To utilize data from the prospective European Reference Network (ERN) R-LIVER Registry.
Main Methods:
- Included patients <18 years with autoimmune hepatitis (AIH) or autoimmune sclerosing cholangitis (ASC) in the ERN R-LIVER Registry (Jan 2017-Oct 2023).
- Patients had >12 months follow-up; data collected at diagnosis, 6, and 12 months.
Main Results:
- 116 p-AILD patients (71 AIH1, 8 AIH2, 37 ASC); 27% had cirrhosis at diagnosis.
- 42% achieved complete biochemical remission at 1 year; 72% had normal ALT levels.
- All patients survived; 2 required liver transplantation.
Conclusions:
- Short-term survival in p-AILD is excellent.
- Complete biochemical remission at one year is suboptimal (<50%), with ASC and cirrhosis predicting failure.
- Improved therapeutic strategies for p-AILD are essential.
Background & Aims:
Most literature on paediatric autoimmune liver disease (P-AILD) comprises single-centre, retrospective studies. This study aims to describe robust, real-world data for P-AILD during the first year following diagnosis, utilising data from the prospective European Reference Network (ERN) R-LIVER registry.
Methods:
All patients younger than 18 years with autoimmune hepatitis (AIH) or autoimmune sclerosing cholangitis (ASC) enrolled in the ERN R-LIVER registry from January 2017 to October 2023 and with >12 months of follow-up were included. Each participating centre recorded data from three time points: diagnosis, 6 and 12 months.
Results:
A total of 116 patients with P-AILD were enrolled. Seventy-one patients had AIH1, eight had AIH2, and 37 had ASC. At diagnosis, 27% had cirrhosis. Large duct disease was diagnosed in 45% of ASC. Inflammatory bowel disease was present in 14% at diagnosis. No differences were found in presentation and outcome between AIH1 and 2. Most patients (94%) began treatment with standard therapy (prednisolone with/without thiopurines), and 80% were kept on it during the first year. Complete biochemical remission was achieved by 44 (42%) at 6 months and by 45 (42%) at 1 year, while normal ALT (<45) and IgG (age dependent) levels were observed in 81 (72%) and 53 (51%), respectively, at 12 months. All patients were alive at the end of follow-up, and two required liver transplantation.
Conclusions:
Short-term survival in P-AILD is excellent. However, less than half of patients with P-AILD patients achieved complete biochemical remission at 1 year, with ASC and cirrhosis as main predictors of failure. These findings emphasise the need for improved therapeutic strategies.
Impact And Implications:
This prospective registry study supports current treatment strategies in paediatric autoimmune liver disease by describing real-world immunosuppression use and remission outcomes. These observations are important for paediatric hepatologists and researchers, as they provide contemporary insights into treatment response and also highlight variability in clinical practice. In practice, the results can inform clinical counselling, guide follow-up intensity, and help identify areas where harmonised care pathways and further collaborative research are needed to improve outcomes.
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