Biliary atresia is a rare condition in which the bile ducts inside and outside of infants’ livers are blocked, preventing bile from leaving the liver for evacuation in stools. Bile then builds up in the liver cells, causing damage, fibrosis or scarring, cirrhosis and ultimately liver failure. The cause of biliary atresia is unknown.

Typical symptoms
Symptoms, which are generally observed within a few days or weeks of birth, include prolonged (greater than two weeks) jaundice (yellowing of skin and eyes due to a build-up of bilirubin), dark urine, pruritis or itchy skin and clay-coloured stools.

Diagnosis
A diagnosis is made based on physical symptoms of jaundice and atypical stool colour, physical exam, infant’s medical and family history, in addition to blood analyses and other diagnostic tests including a liver biopsy.

Incidence
Biliary atresia affects three to five babies in Ireland annually and its diagnosis and treatment are very time sensitive. The disease is marginally more common in female infants and in children with Asian or African American heritage.

Management and treatment
Infants with biliary atresia are likely to have reduced bile flow to the small intestine, which may lead to malnutrition. To make sure they get enough nutrients and calories, doctors may recommend a special eating plan and supplements.

The main treatment for biliary atresia is referred to as the Kasai procedure or hepatoportoenterostomy. This is the removal of the blocked bile ducts and gall bladder and their replacement with a small section of the infant’s intestine. This section, which is connected to the liver, serves as a bile duct system outside the liver. It generally offers an 80% to 90% survival rate to adulthood. Most cases, though, require a liver transplant at some point. Since the Kasai procedure is less successful when undertaken after 60 days old, an early diagnosis of biliary atresia is pivotal.

Prognosis
Without treatment, an infant’s prognosis is very poor, with liver failure and mortality a likely outcome. Following the Kasai procedure, an infant can survive to early adulthood. The optimum time for a liver transplant appears to be at age 20, after which time a new liver may allow an individual to live a relatively long and normal life.