Biliary atresia is a severe congenital malformation of the liver characterized by partial or complete obliteration of the bile duct lumen both inside and outside the liver. In approximately 20% of affected children, biliary atresia is associated with other congenital anomalies, including congenital heart defects, intestinal malrotation, polysplenia, and other developmental abnormalities.
Clinical manifestations of biliary atresia
At birth, infants with biliary atresia usually have no obvious external signs of the disease. However, starting from the 2nd–3rd day of life, progressive jaundice of the skin and sclera develops. Urine becomes dark in color, while stools become pale or acholic.
By the end of the first month of life, affected infants often show decreased appetite, poor weight gain, lethargy, and progressive abdominal distension due to hepatomegaly and the development of ascites.
By 4–5 months of age, liver failure develops. Hepatic blood flow gradually deteriorates, leading to portal hypertension, dilation of esophageal veins, splenomegaly, and the appearance of visible subcutaneous venous collaterals on the anterior abdominal wall.
From around 6 months of age, gastrointestinal bleeding episodes may occur.
Diagnosis of biliary atresia
Early diagnosis of biliary atresia is critically important, ideally within the first weeks of life, as the child’s age at the time of surgical intervention directly affects survival. Without timely surgical treatment, most children do not survive beyond one year due to progressive liver failure, as well as cardiac and respiratory complications and recurrent gastroesophageal bleeding.
Diagnosis requires biochemical blood testing, which typically shows elevated liver enzymes, including alanine aminotransferase (ALT), aspartate aminotransferase (AST), and increased bilirubin levels.
On abdominal ultrasound performed before feeding, the gallbladder may appear as a fibrous cord or may not be visualized at all, and the common bile duct is usually absent.
To confirm the diagnosis, additional investigations are performed, including cholangiography (visualization of the bile ducts after contrast injection), liver biopsy, and magnetic resonance imaging (MRI).
Treatment approach
The goal of surgical treatment is to create an artificial pathway for bile drainage into the gastrointestinal tract. Surgery should be performed as early as possible to prevent the development of liver cirrhosis.
Several surgical approaches are used:
- In cases of complete extrahepatic bile duct atresia, an anastomosis between the liver and the small intestine is created (Kasai portoenterostomy).
- In the presence of severe portal hypertension and recurrent gastrointestinal bleeding, portocaval shunting may be performed.
- If reconstructive surgery is ineffective or impossible (for example, in cases of complete obliteration of intrahepatic bile ducts), liver transplantation is indicated.
