What is the initial workup and management for a youth presenting with jaundice?

Workup for Jaundice in a Youth

Begin with abdominal ultrasound as the first-line imaging study, combined with comprehensive laboratory evaluation including total and fractionated bilirubin, complete blood count, liver function tests (AST, ALT, alkaline phosphatase, gamma-glutamyltransferase), albumin, and prothrombin time/INR to distinguish between unconjugated and conjugated hyperbilirubinemia and guide subsequent diagnostic steps. 1, 2, 3

Initial Laboratory Evaluation

• Measure total and fractionated bilirubin to determine whether hyperbilirubinemia is conjugated or unconjugated, as this fundamentally directs the diagnostic pathway 2, 3, 4
• Obtain complete blood count to assess for hemolysis (anemia, elevated reticulocyte count) as a cause of unconjugated hyperbilirubinemia 3, 4
• Check liver function tests including AST, ALT, alkaline phosphatase, and gamma-glutamyltransferase to determine the pattern of liver injury (hepatocellular vs. cholestatic) 2, 3, 4
• Assess hepatic synthetic function with albumin and prothrombin time/INR, as these indicate severity of liver dysfunction 3, 4

Critical Consideration: Wilson Disease in Youth

Wilson disease must be excluded in any youth aged 3-55 years presenting with unexplained liver disease and jaundice, as this represents a treatable cause with serious consequences if missed. 1

• Check ceruloplasmin level and 24-hour urinary copper excretion in all youth with jaundice of unclear etiology 1
• Perform slit-lamp examination for Kayser-Fleischer rings, though their absence does not exclude Wilson disease 1
• Wilson disease can present as acute liver failure with Coombs-negative hemolytic anemia, acute hepatitis-like illness, or chronic liver disease with cirrhosis 1
• Youth with apparent autoimmune hepatitis should be carefully assessed for Wilson disease, as elevated immunoglobulins and autoantibodies may occur in both conditions 1

Imaging Algorithm Based on Bilirubin Fractionation

For Unconjugated Hyperbilirubinemia:

• Evaluate for hemolysis with peripheral blood smear, reticulocyte count, haptoglobin, and LDH 2
• Consider Gilbert syndrome or Crigler-Najjar syndrome if hemolysis is excluded 2, 5
• Imaging is typically not required unless clinical features suggest alternative diagnoses 5

For Conjugated Hyperbilirubinemia:

• Perform abdominal ultrasound immediately as the initial imaging study, which has 71-97% specificity for confirming or excluding biliary obstruction 1, 2, 6
• Ultrasound detects biliary dilation, identifies gallstones with 96% accuracy, assesses for cirrhosis (sensitivity 65-95%), and evaluates for alternative hepatic pathology 2, 6
• The nodular liver surface is the most accurate sonographic finding for cirrhosis, with 86% sensitivity on the undersurface 2

Advanced Imaging When Ultrasound is Inconclusive

• Proceed to MRCP if ultrasound shows biliary dilation but no clear cause, as MRCP has 85-100% sensitivity and 90% specificity for detecting bile duct stones and strictures 2, 6
• MRCP is superior to CT for evaluating suspected biliary sources of jaundice and provides comprehensive visualization of the entire hepatobiliary system 6
• MRCP can identify the level and cause of biliary obstruction with 91-100% accuracy, including stones, strictures, masses, and lymph nodes 2, 6
• Reserve contrast-enhanced CT for critically ill patients with suspected complications such as perforation or abscess formation, not for initial diagnostic evaluation 6, 3

Additional Diagnostic Considerations in Youth

• Check viral hepatitis serologies (anti-HAV IgM, HBsAg, anti-HCV, anti-HEV IgM) as hepatitis is among the most common causes of jaundice in youth 1, 3
• Obtain drug and toxin exposure history, including over-the-counter medications, herbal supplements, and illicit substances, as drug-induced liver injury is a common cause 1, 3
• Consider autoimmune hepatitis in youth with elevated immunoglobulins and autoantibodies, but exclude Wilson disease first 1

When to Proceed to Invasive Procedures

• ERCP is therapeutic, not diagnostic, and should only be performed after non-invasive imaging confirms biliary obstruction requiring intervention, with 80-95% success for CBD stone clearance 2, 6
• Liver biopsy may be necessary when imaging and laboratory tests are inconclusive, particularly for suspected metabolic, autoimmune, or functional causes of jaundice 2, 3, 4
• The American College of Gastroenterology recommends liver biopsy if ultrasound is negative and additional laboratory testing for liver failure is inconclusive 2

Common Pitfalls to Avoid

• Do not skip Wilson disease screening in youth, as age alone should not eliminate this diagnosis, and delayed treatment leads to irreversible neurologic damage 1
• Do not order HIDA scan for jaundice workup, as it does not visualize biliary anatomy and is reserved for suspected acute cholecystitis when ultrasound is equivocal 6
• Do not proceed directly to ERCP without non-invasive imaging, as this exposes patients to unnecessary procedural risks when obstruction may not be present 2, 6
• Do not assume absence of Kayser-Fleischer rings excludes Wilson disease, particularly in patients presenting with predominantly hepatic manifestations 1