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How not to miss biliary atresia

Although biliary atresia is a rare condition, a missed case can have catastrophic consequences. Paediatric surgeon Mr Mark Davenport explains how to spot it

Although biliary atresia is a rare condition, a missed case can have catastrophic consequences. Paediatric surgeon Mr Mark Davenport explains how to spot it

Worst outcomes if missed

• Death – untreated biliary atresia is invariably fatal.

• Cirrhosis – the longer the delay in diagnosis the more likely it is that there will be irreversible cirrhosis and liver failure. This compromises the chances of successful primary surgery.

Epidemiology and incidence

Biliary atresia is the most important cause of persistent jaundice and cholestatic liver disease presenting in infants.

It is uncommon in the UK, affecting one in 15,000 live births.

About 50 to 60 infants with biliary atresia will be born each year in the UK.

It remains the most common indication for liver transplantation in children in Europe and North America.

Pathology and associations

Most cases are isolated abnormalities in otherwise healthy and apparently thriving infants. About 10% have a peculiar association with other abnormalities such as situs inversus and polysplenia.

Some infants will have developed a cyst in the obliterated biliary tract, which can be detected on the antenatal ultrasound. The differential diagnosis for this scenario of a jaundiced infant and an abdominal cyst lies between a cystic choledochal malformation (good prognosis) and a cystic biliary atresia (poor prognosis).

Symptoms

• Jaundice – all babies with biliary atresia will be jaundiced, if looked for. The jaundice results from biliary obstruction and is therefore largely a conjugated (water soluble) hyperbilirubinaemia.

Jaundice is common in infants and most will not have significant liver disease. This so-called physiological jaundice is transient and unconjugated in nature.

But jaundice that persists beyond two weeks in a term baby (three weeks in the premature) is abnormal and needs investigation, not reassurance.

• Acholic stools – absence of bile in the intestines removes the normal pigment of both breast or bottle-fed baby stools. They therefore appear white or creamy, and are reminiscent of cottage cheese. It is important to view stools yourself as first-time parents are told to expect a different colour from an adult stool, and do not realise this pale colour is abnormal.

• Yellow urine – this is where the excess bilirubin goes. The increased bilirubin level is predominantly conjugated and is therefore water-soluble. It is passively excreted through the kidney into the urine.

• Bleeding tendency – lack of intestinal bile causes fat malabsorption and in particular impaired absorption of vitamin K. This is crucial to the production of four key elements in the coagulation cascade and results in a bleeding tendency.

Sometimes this is inconsequential, such as recurrent bleeding from the umbilical stump. However, in some it can be serious with a major intracerebral bleed. This seems to be have become more prevalent following the adoption of routine oral – rather than intramuscular – vitamin K.

• Cirrhosis – the clinical features can only be seen in older infants, typically 10 weeks and over, who by now have established liver disease. The liver or spleen might be palpable and there may be ascites.

Differential diagnosis

There are a large number of causes for jaundice in the newborn and even if we exclude those whose underlying mechanism is haemolytic (Rhesus disease, materno-fetal ABO incompatibility) and those with an unconjugated jaundice (for instance, Crigler-Najjar syndrome) we are still left with a formidable list.

Most investigations should be done in hospital. In England and Wales much of the diagnostic process is carried out in one of the three supra-regional paediatric liver units in London, Birmingham and Leeds.

Other causes of jaundice include:

• Alagille's syndrome (hypoplasia of the biliary tract, cardiac and vertebral anomalies)

• alpha-1-antitrypsin deficiency

• cystic fibrosis

• choledochal malformation

• inherited liver enzyme defects (for instance, BSEP deficiency)

• inspissated bile syndrome

• viral infection (such as cytomegalovirus)

• neonatal hepatitis.

First-line investigations

The only test that matters in the community is split bilirubin. A total bilirubin simply confirms the level. Even in infants with congenital biliary atresia, the conjugated level will be normal at birth (because of placental transfer), so a falling bilirubin can be seen only if the total is looked at.

Second-line investigations

• Ultrasound

• Viral serology

• Radioisotope hepatobiliary scan

• Percutaneous liver biopsy


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Further information

The Children's Liver Disease Foundation has launched the Yellow Alert campaign, endorsed by the RCGP, to help health professionals and parents recognise life-threatening neonatal disease. Email yellowalert@childliverdisease.org or call 0121 212 3839.

Mr Mark Davenport is a consultant paediatric surgeon at the Paediatric Liver Centre, King's College Hospital, London

Competing interests: none declared

key questions pitfalls Jaundice that persists beyond two weeks in a term baby is abnormal

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