What is Biliary Atresia?
Biliary Atresia (OMIM #210500) is a rare but the most common surgical disease of the biliary system in newborns. It results in obstruction or complete absence of the bile ducts that carry bile from the liver to the small intestine. This condition causes bile stasis (cholestasis), leading to progressive liver damage, fibrosis, and eventually biliary cirrhosis. Biliary atresia is life-threatening and requires early intervention.
The disease is considered non-genetic and generally not inherited. Its exact cause remains unknown, though viral infections, autoimmune processes, or developmental abnormalities of the bile ducts during embryogenesis have been suggested. There are different forms of the disease: the embryonic (fetal) form is often associated with other congenital anomalies, such as the biliary atresia–heart–spleen syndrome, while the perinatal form appears after birth without associated malformations.
The incidence of biliary atresia is estimated at about 1 in 8,000–18,000 live births, depending on the region, and it occurs slightly more often in girls. Without treatment, most children with this diagnosis do not survive beyond the age of two due to progressive liver failure. The main treatment is the Kasai procedure (hepatoportoenterostomy), which should be performed within the first 6–8 weeks of life. If it is not effective, liver transplantation is required.
Biliary atresia is a rare but the most common obstructive cholestatic liver disease in newborns. It occurs due to partial or complete blockage of the bile ducts, preventing bile flow from the liver to the small intestine. This leads to cholestasis, progressive liver injury, fibrosis, and cirrhosis. Biliary atresia is a medical emergency that, without timely treatment, can be life-threatening within the first months of life.
The main clinical signs appear during the first weeks of life and include:
Persistent jaundice (yellowing of the skin and eyes) lasting beyond 2 weeks of age
Pale or clay-colored stools
Dark urine
Enlarged liver (hepatomegaly)
Poor weight gain
Irritability and general weakness
Without treatment, cirrhosis, portal hypertension, and liver failure develop.
No. Biliary atresia is usually not inherited. Its exact cause remains unknown. Possible factors include viral infections, autoimmune mechanisms, developmental defects during embryogenesis, or exposure to toxic agents. In some cases, biliary atresia occurs together with other congenital anomalies (such as heart, spleen, or intestinal defects), which is typical of the fetal form.
Diagnosis is based on clinical signs and test results, including:
Blood tests (elevated conjugated bilirubin)
Liver ultrasound
Hepatobiliary scintigraphy (HIDA scan)
MRCP or cholangiography
In some cases, diagnostic laparoscopy or liver biopsy for confirmation
Differential diagnosis must exclude other causes of neonatal cholestasis.
Without treatment, the disease progresses rapidly and can lead to:
Cirrhosis of the liver
Portal hypertension
Liver failure
Gastrointestinal complications (bleeding, ascites)
Malabsorption of fat-soluble vitamins
Life-threatening outcomes within the first two years of life
The primary treatment is the Kasai procedure (hepatoportoenterostomy), which creates a new pathway for bile to drain from the liver to the intestine. It is most effective when performed before 60 days of age.
In many patients, liver failure eventually develops, requiring liver transplantation. Supportive care includes nutritional support, infection prevention, and the use of ursodeoxycholic acid.
Currently, the only radical treatment for severe cases is liver transplantation. In some children, the Kasai procedure can provide sufficient bile drainage for long-term stability. However, even with successful surgery, most patients require ongoing monitoring, and some will need transplantation later in childhood or adulthood.
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