Biliary Atresia

Abstract

Biliary atresia (BA) is a devastating disease of infancy invariably leading, if untreated, to cirrhosis, liver failure and death. It remains the commonest indication for paediatric liver transplantation throughout the developed world and is therefore a leading consumer of resources, despite its rarity.

The aetiology is essentially unknown though it is recognised as consisting of a number of variants with probable diverse actual causes. Though most are isolated anomalies, about 10% are examples of the biliary atresia splenic malformation (BASM) syndrome, with a combination of anomalies, such as polysplenia, situs inversus, malrotation, absence of the vena cava and a preduodenal portal vein.

All cases of BA have pale stools and dark urine and typically present with persisting conjugated jaundice. Diagnosis is by exclusion of medical causes, ultrasound examination and typically, percutaneous liver biopsy. Laparotomy/laparoscopy ± cholangiography will confirm, and in most cases, proceed to a Kasai portoenterostomy (KPE). Clearance of jaundice is possible in ≥50% of infants if performed within 70 days of birth.

For those where this fails and complications supervene or those who present with established end-stage liver disease, then liver transplant should be considered. With this complementary strategy, overall survival is possible in >90% of affected infants.