Understanding Biliary Atresia – A Congenital Birth Defect

Biliary Atresia is a term given to describe a rare congenital condition characterized by an abnormality in the fetal liver where all, or part of the bile duct fails to form. The purpose of these bile ducts is to function as a drainage system and remove waste from the liver. This is a rather rare congenital defect. This article provides a general overview of biliary atresia and information on symptoms and current treatment options.

In babies who have biliary atresia, there may be no symptoms at birth, but by the 2nd or 3rd week after birth, the baby will become very jaundiced (yellow skin). The color of the jaundice will vary according to the severity of the condition. In babies, with this biliary atresia, since the bile duct isn’t formed and functioning to remove waste products, bile flow from the liver to the gallbladder is blocked and liver damage and cirrhosis of the liver may result. If left untreated, the condition can lead to death.

When a baby presents symptoms such as the developing jaundice, a slow or no weight gain, fussiness, dark urine, foul-smelling stools, or be pale or ashen, it may indicate biliary atresia. A doctor may also detect the enlarged liver during a routine examination.

When this condition is suspected, a doctor will perform tests to look for increased levels of bilirubin in the blood. An X-ray and/or abdominal ultrasound will also show an enlarged liver and spleen. There may also be a HIDA scan to determine the bile flow from the liver, a cholangiogram, or a liver biopsy to test for cirrhosis and investigate for other potential causes of the jaundice.

Upon diagnosis, a surgery may be performed to connect the liver to the small intestine, bypassing the absent or malformed bile ducts. This is called a Kasai procedure and is performed before the baby is 3 months old. Without the surgery and in cases where the surgery cannot be performed, death usually occurs within the first year of life. Long term treatment will require a liver transplant.

The early surgical intervention and treatment improves the survival rate of one-third of those who are born with biliary atresia. Liver transplants are expected to improve survival rates even more.

This condition has many risk factors and complications. It is important if an infant shows any of the symptoms that medical care and treatment be sought immediately. Close monitoring and work with a medical team will be required. The exact cause of this condition is unknown.