Biliary atresia, extrahepatic

Biliary Atresia, Extrahepatic

Biliary atresia is a rare and serious liver condition that affects newborns. It involves the blockage or absence of the extrahepatic bile ducts, which are responsible for carrying bile from the liver to the gallbladder and small intestine. This condition leads to bile accumulation in the liver, causing liver damage and cirrhosis if not treated promptly.

Pathophysiology

Biliary atresia is characterized by the progressive obliteration of the extrahepatic bile ducts. The exact cause of this condition is not well understood, but it is believed to involve a combination of genetic and environmental factors. The blockage prevents bile from draining out of the liver, leading to cholestasis, liver inflammation, and fibrosis.

Clinical Presentation

Infants with biliary atresia typically present with jaundice, dark urine, pale stools, and hepatomegaly. Jaundice is usually noticeable within the first two to eight weeks of life. As the disease progresses, affected infants may develop failure to thrive and ascites.

Diagnosis

The diagnosis of biliary atresia involves a combination of clinical evaluation, laboratory tests, and imaging studies. Initial blood tests may show elevated levels of bilirubin and liver enzymes. An abdominal ultrasound can help assess the liver and bile ducts, but a definitive diagnosis often requires a liver biopsy and an intraoperative cholangiogram.

Treatment

The primary treatment for biliary atresia is the Kasai procedure, a surgical operation that involves removing the blocked bile ducts and connecting the liver directly to the small intestine. This procedure is most successful when performed before the infant is three months old. In cases where the Kasai procedure is not successful or the liver damage is too advanced, a liver transplant may be necessary.

Prognosis

The prognosis for infants with biliary atresia depends on the success of the Kasai procedure and the extent of liver damage at the time of diagnosis. Early intervention improves outcomes, but many children will eventually require a liver transplant.

Epidemiology

Biliary atresia is a rare condition, occurring in approximately 1 in 10,000 to 15,000 live births. It is more common in females and in certain ethnic groups, including Asians and African Americans.

Research and Future Directions

Research into the causes and treatment of biliary atresia is ongoing. Studies are exploring the genetic basis of the disease, as well as potential medical therapies to complement surgical treatment.

Also see

• Cholestasis
• Liver transplant
• Jaundice
• Hepatomegaly