Disease Specific information

Autoimmune Hepatitis (AIH) is a chronic liver disease characterised by increased serum transaminases and immunoglobulin G, circulating autoantibodies and infiltration of immune cells on liver histology. Its pathogenesis is largely …

Primary Biliary Cholangitis, formerly Primary Biliary Cirrhosis  …

PSC is a chronic cholestatic hepatobiliary disease that has an incidence of approximately 1 case per 100,000 persons/year. Two-third of patients are male, and of middle-age. The pathogenesis is not …

Watch here a short educational video on Acute Liver Failure (ALF):  …

AATD is a common inherited genetic condition that increases the risk of lung and liver disease. The prevalence of the severe forms (such as the Pi*ZZ genotype) is approximately 1 …

ERN RARE-LIVER covers the following subtypes: Isolated Biliary Atresia Biliary atresia with splenic malformation syndrome …

Watch here a short educational video on Neonatal Cholestasis: educational video on MDR3 deficiency and cholestatic liver diseases:  …

Wilson disease (WD) is a rare autosomal recessive genetic disorder of hepatic copper metabolism. In WD the biliary copper excretion is impaired leading to is accumulation, primary in the liver, …

Polycystic liver disease (PLD) is characterized by the formation of fluid-filled cysts throughout the liver. It can occur as an isolated form in autosomal dominant polycystic liver disease (ADPLD), which …

Vascular liver diseases are disorders of the hepatic vasculature that lead to obstruction of blood vessels in and near the liver. Watch here our educational video on how to manage …

This theme will focus on data acquisition and development of guidelines for management of rare gestational liver diseases (acute fatty liver of pregnancy; HELLP syndrome; severe, early-onset intrahepatic cholestasis of …