Key Takeaways

  • Biliary atresia is a rare disease in newborns that affects the liver.
  • While the exact cause of biliary atresia is still unknown, it is believed to develop in newborns when bile ducts injured during development.
  • Biliary atresia can be life-threatening in the long-term. It is important to contact a doctor immediately if your child is experiencing any of its possible symptoms as earlier evaluation and surgery increase the chance of a successful correction.

What is Biliary Atresia?

Biliary atresia is a very rare but serious liver condition that affects newborns and infants. It occurs when the bile ducts are damaged and scarred.  The bile ducts make up a network in the liver that carries bile (a yellowish fluid made in the liver to help digestion and to remove by-products of normal metabolism) to the gallbladder and small intestine. Over time, the buildup of these normal juices and by-products in the liver tissue stops the liver from working properly.  Biliary atresia appears early in life but is often a chronic (long-term) disease that will worsen over time. Without treatment, it will be life-threatening with scarring of liver cells (cirrhosis) and liver failure.

The liver produces a digestive liquid called bile. This liquid contains bile salts, bilirubin, and cholesterol. The bile ducts drain this liquid into the intestines and store some in the gallbladder. During digestion, bile breaks down fat. Bile also carries waste products made during normal liver metabolism out of the liver and into the intestine. From here,  these substances are removed from the body. When the bile ducts are blocked, these waste products build up inside the liver and cannot drain into the intestines to leave the body.

The most common type of biliary atresia is perinatal, which appears 2-6 weeks after birth. Fetal biliary atresia is less common and is typically identified in the first two weeks of life. It is often associated with other cardiac, gastrointestinal, or laterality abnormalities.

How Common is Biliary Atresia?

Biliary atresia is a very rare disease. It only affects about 1 in every 12,000-17,000 births. Approximately 250 infants are seen with the condition annually in the United States. It occurs more often in girls, premature infants, and those of Asian and African American descent. It is not an inherited disease (passed down through families), and it does not appear to be linked to medications taken during pregnancy. Most babies with biliary atresia do not have other health conditions, but some will also have problems in their hearts, spleens, blood vessels, and intestines.

What are the Causes of Biliary Atresia?

Doctors are not sure what causes biliary atresia.  There may be several different reasons why babies develop the condition, such as:

  • Bile ducts do not form properly during pregnancy
  • Bile ducts are damaged from an autoimmune attack (when the body’s immune system destroys normal, healthy cells).
  • Certain viruses or bacterial infections affect the liver
  • Genetic mutations
  • Exposure to toxins

What are the Signs and Symptoms of Biliary Atresia?

Children usually begin to have symptoms of biliary atresia about 2-6 weeks after they are born. These symptoms include:

  • Jaundice (when the skin and eyes have an unusual yellow tint)
  • Dark yellow or brown urine
  • Pale or clay-colored stool (a sign that little or no bile is reaching the intestine)
  • Poor weight gain/slow growth
  • Irritability
  • Enlarged spleen
  • Swelling in the abdomen (belly area)