Why Biliary Atresia Demands Our Respect

As I listened to our fellow present the case of a 5-month-old infant referred for evaluation of persistent jaundice, painful memories of several similar cases flashed by, causing me to ask, "Is this another late diagnosis of biliary atresia?"

This infant was noted to be icteric at the standard 2-week well-child visit. His serum total bilirubin level was elevated (5.4 mg/dL). However, this and the yellow skin were dismissed by the primary care team as being typical for newborns. Despite the continued concerns expressed by his parents, the infant was not further evaluated. At 4.5 months of age, the distraught parents sought a second opinion. He was gaining weight poorly, his stools appeared pale, and his abdomen was distended. On exam, the liver was found to be enlarged.

It was at this point that the child was referred to us. However, by then, the delay in assessment had already decided his fate: He had developed cirrhosis. Our evaluation for jaundice was transformed into one for liver transplant.

The Consequences of Late Diagnosis

In contrast to newborns with physiologic unconjugated hyperbilirubinemia, which is common and benign, biliary atresia (conjugated hyperbilirubinemia) deserves great respect.

This disease results from a rapidly progressive inflammatory and fibrosing injury to the extrahepatic bile ducts, which interrupts bile flow and leads to severe liver injury.