Biliary atresia

What is biliary atresia ?

Biliary atresia is characterized by an obstruction of bile ducts (all the channels that collect bile synthesized in the liver and transport it to the intestine) that occurs in the perinatal period.
It is the most common cause of neonatal cholestasis (biliary retention). It is a rare disease and affects 1 live birth in 18,000 in Europe. Girls are affected a little more often than boys.

What is the cause?

Biliary atresia is a non-hereditary disease of unknown origin.

What are the symptoms?

The diagnosis is determined with the presence of yellowing of the skin (jaundice) at birth, discolored stools (light yellow, gray) and hepatomegaly (an increase in liver volume, which is detected with palpation).
a yellow coloring of the skin and mucous membranes such as the conjunctiva (white of the eye and inside part of the eyelids)

What are the treatments?

Left untreated, bile duct atresia progresses to biliary cirrhosis (narrowing of the liver with severe deterioration of its functionality) within a few months, and leads to the child's death in the first few years of life.
Because there is no medicinal treatment for biliary atresia, it is advisable to perform a Kasaï intervention (hepato-porto-enterostomy).

This intervention must be performed quickly once the diagnosis is determined in order to restore the flow of bile to the intestines.
In case of progression of biliary cirrhosis despite the operation, liver transplantation is required.

What is the prognosis?

Around 40% of children with bile duct atresia require liver transplantation before the age of 5, and 80% of children undergo transplantation before the age of 20.
It is important to note that patient survival is very good (approaching 100%), with a quality of life that is close to normal for most of them.