Biliary atresia

This page provides information about biliary atresia, its symptoms, causes and what treatment options are available.  

Biliary atresia (BA) is a rare disease that affects newborns and young children. There are approximately 20,000 people living with BA but there are currently no approved therapies available.
 
The symptoms of BA usually appear in the first weeks of life. Jaundice (yellowing of the skin and eyes) that does not go away, pale stools and dark urine are the main signs of the disease. Other symptoms may include a swollen abdomen, poor growth, weight loss, and fatigue.

It is not fully understood what causes BA, but researchers believe it may begin before birth. BA is not considered an inherited disease and most people living with BA will not pass it on to their children.

In BA, the bile ducts, which are tubes that carry digestive fluid called bile from the liver to the small intestine, are blocked or absent. When bile cannot flow out of the liver, bile acids build up to toxic levels which can lead to inflammation. Over time this inflammation gets worse and eventually leads to severe scarring of the liver, called cirrhosis, and in some cases liver failure.

Babies born with BA need early treatment and this usually involves surgery.

The most common initial treatment is a surgery called the Kasai procedure or hepatoportoenterostomy (HPE). The surgery involves removing large, blocked bile ducts connected to the liver. A portion of the small intestine is then used to create a new pathway for bile to flow out of the liver. The Kasai procedure is not a cure, but it may help improve bile flow, delay liver damage and the need for a transplant.

Even with surgery, many children eventually need a liver transplant. BA is the leading cause of liver transplantation in children. Without treatment, the disease can lead to liver failure.

ProQR is developing a therapy called AX-0810 for the treatment of BA. Learn more about how AX-0810 works.