What are rare liver diseases ?
Diseases are referred as rare when they affect a small percentage of the general population, the official threshold in Europe being a disease that affects less than one in 2,000 people.
To date, almost 8,000 rare diseases have been identified with 80% being of genetic origin.
In France, the number of people affected by these rare diseases is estimated at over 3 million, i.e. 4.5% of the population. Fifty percent of these rare diseases affect children aged under 5, and they are responsible for 10% of deaths between 1 and 5 years of age. Approximately 25% of these rare diseases appear after the age of 40.
The liver is the largest organ in the human body.
It has many functions that are vital for the body:
- storage and distribution of nutrients produced by digestion
- break down of toxic substances
- synthesis of many blood proteins
- production of bile for the digestion of fat in the small intestine
There are many types of liver damage that may seriously affect a person’s health.
Rare liver diseases affect over 12,000 people in France, both adults and children. In the latter, the onset is often early, before the age of 2.
In children, almost half of the cases are life-threatening, leading to a 35% death rate under the age of 1, 10% between ages 1 and 5 and 12% between ages 5 and 15.
Today over 60 rare adult and paediatric liver diseases have been identified:
- Biliary Atresia and Genetic Cholestasis : Biliary Atresia, Genetic Cholestasis, Alagille Syndrome, Alpha-1 Antitrypsin Liver Disease (AATD), Congenital bile acid synthesis defect…
- Inflammatory biliary diseases and autoimmune hepatitis :Primary Biliary Cholangitis (PBC), Primary Sclerosing Cholangitis (PSC), LPAC Syndrome, Autoimmune Hepatitis (AIH)…
- Vascular liver diseases : Budd-Chiari Syndrome (BCS), Non-cirrhotic acute and chronic portal vein thrombosis (PVT), Porto sinusoidal vascular disease, Veno occlusive disease (VOD), Portal cavernoma or chronic non cirrhotic extrahepatic portal vein obstruction…
Fact sheets are available for each of theses diseases in the rare liver diseases directory