Biliary atresia

Biliary atresia is a progressive obliterative cholangiopathy of the intrahepatic and extrahepatic bile ducts. It occurs in the perinatal period causing severe, persistent jaundice and acholic stool and, if untreated, is associated with a poor prognosis.3

The most common cause of cholestatic jaundice in the first months of life is biliary atresia, accounting for 25 to 40% of cases.17 Biliary atresia is also the most frequently identifiable cause of obstructive jaundice in the first 3 months of life.

The prevalence of biliary atresia varies around the world, between 1 in 6,000 live births in Taiwan, 1 in 12,000 in the United States, 1 in 19,000 in Canada, and 1 in 18,000 in Europe.17Its aetiology is poorly understood and may include genetic contributions to bile duct dysmorphogenesis, viral infection, exposure to toxins, and chronic inflammatory or immune-mediated bile duct injury.18-21

Direct hyperbilirubinaemia is identified sooner after birth in patients with biliary atresia compared with normal healthy infants suggesting that biliary injury is initiated before or soon after birth and that biliary atresia is less likely to be acquired after birth.22


Definitive diagnosis: intraoperative cholangiogram and histological examination of the duct remnant is considered the gold standard to diagnose biliary atresia

3. INSERM. Orphanet. European Union: The portal for rare diseases and orphan drugs. 2021 (accessed 09/2021 at

17. Fawaz R, Baumann U, Ekong U, et al. Guideline for the evaluation of cholestatic jaundice in infants: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr 2017;64:154-68.

18. Sokol RJ, Mack C. Etiopathogenesis of biliary atresia. Semin Liver Dis 2001;21:517-24.

19. Mack CL. The pathogenesis of biliary atresia: evidence for a virus-induced autoimmune disease. Semin Liver Dis 2007;27:233-42.

20. Schreiber RA, Kleinman RE. Genetics, immunology, and biliary atresia: an opening or a diversion? J Pediatr Gastroenterol Nutr 1993;16:111-3.

21. Bezerra JA. Potential etiologies of biliary atresia. Pediatr Transplant 2005;9:646-51.

22. Harpavat S, Finegold MJ, Karpen SJ. Patients with biliary atresia have elevated direct/conjugated bilirubin levels shortly after birth. Pediatrics 2011;128:e1428-33.

23. Hartley JL, Davenport M, Kelly DA. Biliary atresia. Lancet 2009;374:1704-13.