How is biliary atresia typically diagnosed?

Multidisciplinary: This diagnosis is made by a team of neonatologists, pediatric surgeons and pediatric gastroenterologists. It includes blood test, an ultrasound, a nuclear scan called hida scan to evaluate drainage of the liver, a liver biopsy and finally a cholangiogram. As you can see it is not straightforward and that is why so many specialists are required.

Biliary atresia: Biliary atresia is one of the most common indications for liver transplantation in children, however with the successes of the kasai procedure, the age at transplant is increasing. It is generally diagnosed in lab abnormalities, particularly elevated bilirubin, and imaging such as MRI showing no developed bile ducts within the liver.

Lab test: Measure bilirubin. If indirect bilirubin is elevated then get ultrasound to assess presence or absence of gallbladder. Hida scan will assess whether bile is excreted into the intestine. If not then surgery is necessary to establish bile flow? Surgery should be done prior to 60 days of life.

Confirmed at surgery: If the direct bilirubin is elevated, there is a concern. Stools are white as there is no bilirubin. In general, the bili is around 8 with a direct component of 4. The liver enzymes are generally normal. If high, another cause is likely. An excretion scan (hida) -no excretion and ultrasound (no gall bladder) and/or liver biopsy are used. Confirmed by surgery. Best outcome if surgery by 60 days.