Biliary Atresia
Biliary atresia is a rare, progressive fibro-inflammatory disorder affecting the biliary tree in infancy.
Definition and Pathophysiology
Biliary atresia is characterised by scarring and obstruction of the extrahepatic bile ducts → impairs normal bile flow → cholestasis [Ref]
Cholestasis results in: [Ref]
- Conjugated hyperbilirubinaemia → pathological neonatal jaundice
- Inflammation and progressive liver fibrosis → cirrhosis
- Characteristic stool and urine changes
- No / little bile entering the intestine → pale stools
- Conjugated bilirubin excreted in urine → dark urine
Epidemiology
Biliary atresia is rare (5-10 in 100,000 births worldwide) [Ref]
- It is one of the most important causes of neonatal cholestasis
- It is a major indication for paediatric liver transplantation
Causes and Risk Factors
The exact cause is unknown, likely multifactorial [Ref]
Risk factors / associations (non-specific and do NOT reliably predict disease): [Ref]
- Maternal diabetes
- Maternal drug exposure
- Prematurity
Family history of liver disease is NOT predictive.
Clinical Features
| Neonatal jaundice (due to conjugated hyperbilirubinaemia) | Prolonged / persistent jaundice (pathological jaundice), lasting beyond:
|
| Cholestasis |
|
| Liver changes |
|
Persistent neonatal jaundice + pale stools = ?biliary atresia
Investigation and Diagnosis
Routine investigations in suspected biliary atresia:
| Test | Description / findings |
|---|---|
| Shared initial neonatal jaundice bloods | Haematology tests:
Liver tests:
Routine metabolic screening (including for congenital hypothyroidism) Key biochemical findings in biliary atresia: [Ref]
|
| Initial imaging: abdominal ultrasound | Supportive findings: [Ref]
NB a normal ultrasound does NOT exclude biliary atresia |
| Definitive test: intraoperative cholangiography (IOC) | Intraoperative cholangiography involves injecting contrast into the biliary tree to assess duct patency [Ref]
If biliary atresia is confirmed, surgery (Kasai procedure) can be performed during the same operation (see below for more details) [Ref] |
Additional specialist investigations (not routinely required, used selectively by specialist): [Ref]
- Liver biopsy
- HIDA scan
Management
Refer all patients urgently to a specialist paediatric hepatology / hepatobiliary centre
| Initial supportive management [Ref] |
|
| Definitive management [Ref] | 1st line definitive management: surgery (Kasai portoenterostomy)
Long-term post-operative management:
|
Last resort: liver transplantation [Ref]
- Indicated if Kasai portoenterostomy fails to establish adequate bile drainage or if the patient develops progressive / end-stage liver disease or major complications
- Biliary atresia remains a major indication for paediatric liver transplantation
Complications
Complications of biliary atresia (→ progressive cholestatic liver disease): [Ref]
- Malnutrition and fat-soluble vitamin deficiency
- Coagulopathy (esp. from vitamin K deficiency)
- Progressive hepatic fibrosis → cirrhosis → portal hypertension
Post-Kasai (surgery) complications: [Ref]
- Ascending cholangitis – most common complication after Kasai portoenterostomy
- Persistent / recurrent cholestasis
- Progressive liver fibrosis / cirrhosis despite surgery
- Portal hypertension and associated complications
References
Bibliography
- Ge L, Yang J, Li T, Zhu T, Davenport M, Petersen C, et al. Diagnostic and management guidelines for biliary atresia in 2025. HepatoBiliary Surgery and Nutrition. 2026;15(4):103
- Rabbani T, Anouti A, Ayala German AG, Meadow J, Pandurangi S. Easily missed?: Early recognition of biliary atresia. BMJ. 2026;393:e088453