Biliary Atresia: Signs and Symptoms
Biliary atresia presents with persistent jaundice beyond 2-3 weeks of life accompanied by acholic (pale/clay-colored) stools and dark urine—this triad demands immediate evaluation as any conjugated bilirubin >1.0 mg/dL requires urgent workup. 1
Cardinal Clinical Features
Jaundice Characteristics
- Progressive conjugated hyperbilirubinemia persisting beyond 2-3 weeks of age, with conjugated bilirubin levels typically >130 μmol/L (>1.0 mg/dL), distinguishing this from physiologic jaundice 1
- Jaundice that worsens rather than improves after the first 2 weeks is the hallmark presentation 2, 3
Stool and Urine Changes
- Acholic (pale, clay-colored, or white) stools are the most distinctive clinical finding that separates biliary atresia from other causes of neonatal cholestasis 1, 4
- Dark urine occurs due to renal excretion of water-soluble conjugated bilirubin 1
Physical Examination Findings
- Hepatomegaly is commonly present and significantly increases the likelihood of biliary atresia (odds ratio 9.3) 5
- Poor weight gain and failure to thrive reflect malabsorption of fat-soluble vitamins and progressive liver dysfunction 1
Laboratory Abnormalities
- Elevated gamma-glutamyl transpeptidase (GGT) levels are characteristic, with mean levels of 542 U/L in biliary atresia versus 139 U/L in other causes of cholestasis 5
- Conjugated hyperbilirubinemia with conjugated fraction >25 μmol/L when total bilirubin ≤5 mg/dL 1
Critical Timing Considerations
Any infant with jaundice persisting beyond 14 days of age must be evaluated for conjugated hyperbilirubinemia to rule out biliary atresia. 3 The Kasai portoenterostomy must be performed ideally before 60 days of age to maximize success, as outcomes significantly deteriorate after 3 months of age 6, 1, 4. Without treatment, biliary atresia is universally fatal within the first 1-2 years of life, with median survival of 8 months 6, 3.
Common Pitfalls to Avoid
- Do not dismiss persistent jaundice as "breastfeeding jaundice" if it extends beyond 2 weeks—always check fractionated bilirubin 1
- Do not wait for hepatomegaly to develop before investigating—some infants with biliary atresia may not have prominent hepatomegaly initially 5
- Do not rely solely on HIDA scan results—absence of excretion into the gastrointestinal tract occurs in both biliary atresia and 80% of other cholestatic conditions 5