How to Diagnose Biliary Atresia

Biliary atresia is a disruption in the biliary system because of a congenital absence of the major bile ducts. It affects about one every 10,000 to 15,000 births and has a fetal-embryonic and postnatal form. The fetal-embryonic form of biliary atresia accounts for 10 to 35 percent of the cases and becomes symptomatic within two weeks of birth. The postnatal form is usually found in infants 2 to 8 weeks old.

Difficulty: Challenging

Instructions

1. Find non-specific symptoms as the first signs of biliary atresia. Some jaundice may be present and the stools may become progressively more pale because of the lack of bile. The liver and spleen may become enlarged, but liver failure is rare by the time the condition is diagnosed.

2. Run laboratory tests to distinguish biliary atresia from other causes for a disruption in the flow of bile. There is no single test which is conclusive, but the bilirubin level is typically in the 6 to 12 mg/dL range at the time of diagnosis. The patient's alkaline phosphatase, aminotransferase and gamma-glutamyl transferase levels also may be elevated.

3. Use ultrasound as the first imaging test. Additional imaging techniques such as scintigraphy and Magnetic Resonance Imaging (MRI) are frequently needed because biliary atresia is difficult to diagnose.

4. Take a liver biopsy to make the diagnosis. Biopsies that show bile duct obstruction almost always confirm the diagnosis but may not be apparent in newborns.

5. Perform alternative procedures such as an intubation of the duodenum or an endoscopy, if needed. These procedures are normally not done on infants.

Resources

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