Genetic Cholestatic Disease

About the Working Group

The Genetic Cholestatic Disease Working Group brings together paediatric and adult hepatologists, researchers and other specialists with expertise in inherited disorders that affect bile formation, bile transport and bile flow.

Genetic cholestatic diseases are a diverse group of rare conditions. They may present in infancy, childhood, adolescence or adulthood and can cause jaundice, severe itching, nutritional and vitamin deficiencies, impaired growth, gallstones, progressive liver damage, cirrhosis and, in some cases, the need for liver transplantation.

Conditions covered by the Working Group may include:

• Progressive familial intrahepatic cholestasis (PFIC)
• MDR3 / ABCB4-related liver disease
• Low phospholipid-associated cholelithiasis (LPAC) syndrome
• Benign recurrent intrahepatic cholestasis
• Alagille syndrome
• Genetic causes of neonatal cholestasis
• Other inherited disorders of bile formation and transport

The Working Group aims to improve diagnosis, clinical management, patient information, education, guideline implementation, registry development, patient organisation collaboration and research across ERN RARE-LIVER centres.

Get Involved

Clinicians, researchers, geneticists, paediatric and adult hepatologists, nurses, patient representatives and patient organisations interested in genetic cholestatic diseases are welcome to become involved in the Working Group.

The group supports improved diagnosis, patient information, clinical guidance, registry development, education and collaboration for people living with inherited cholestatic liver diseases.

For more information or to join the Working Group, please contact the ERN RARE-LIVER Coordination Office.

Working Group interest form:
https://ec.europa.eu/eusurvey/runner/ERN_LIVER_WorkingGroups