Biliary atresia is a serious disease requiring prompt early diagnosis preferably before age 6-8 weeks.
A fibro-obliterative obstruction of the extrahepatic biliary tree progressing to intrahepatic ducts, which can develop in utero or during the neonatal period.
Presentation may include jaundice, pale stools, or hepatomegaly.
Biliary atresia should be excluded in any baby with jaundice and pale stools, jaundice persisting beyond 14 days of age, or if the direct or conjugated bilirubin is >1 mg/dL.
Hepatoportoenterostomy is warranted in infants aged <100 days of age and without evidence of end-stage liver disease, but many go on to require liver transplantation within a few years.
Most common complications or sequelae are growth failure, portal hypertension, cholangitis, and ascites. Long-term management focuses on optimization of growth and nutrition.
This condition is fatal without surgery and is the leading indication for pediatric liver transplantation. At least 70% of children with biliary atresia will undergo liver transplantation, 50% of them by age 2 years.
Biliary atresia is a progressive idiopathic, necroinflammatory process that may involve a segment or the entire extrahepatic biliary tree. Even with appropriate, timely surgical intervention, it is often an unrelenting inflammatory process.
History and exam
Key diagnostic factors
- neonatal jaundice
- acholic stool
Other diagnostic factors
- dark urine
- genetic predisposition
- viral infection
- environmental or behavioral exposures
1st investigations to order
- serum total and direct or conjugated bilirubin
- newborn screen (includes tests for galactosemia, thyroid dysfunction, cystic fibrosis, and a variety of metabolic diseases)
- prothrombin time (PT), INR
- CBC with differential
- serum AST, ALT, ALP, and gamma-GT
- abdominal ultrasound
Investigations to consider
- hepatobiliary scintigraphy (technetium Tc 99m-di-isopropyl-acetanilido-imino-diacetic acid scan)
- liver biopsy
- infection screen: blood and urine cultures
- urine PCR for cytomegalovirus
- plasma or serum amino acids
- alpha-1 level and protease inhibitor (Pi) type
- random serum cortisol
- urinary organic acids
- urinary succinylacetone
- urinary bile acids
- serum lactate/pyruvate ratio
infants with biliary obstruction without end-stage liver disease
infants with biliary obstruction with end-stage liver disease
- Extrahepatic biliary obstruction (e.g., choledochal cyst, spontaneous perforation of common bile duct, bile duct stricture or tumor, neonatal sclerosing cholangitis)
- Hepatic viral infections (e.g., CMV, enterovirus, HSV, echovirus, adenovirus, hepatitis B virus, HIV, rubella, reovirus type 3, parvovirus B19, EBV)
- Alagille syndrome
- Guideline for the evaluation of cholestatic jaundice in infants: joint recommendations of NASPGHAN and ESPGHAN
- Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline
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