An Unusual Presentation of Gilbert Syndrome

Area of Science:

• Hepatology
• Clinical Biochemistry
• Genetics

Background:

• Unconjugated hyperbilirubinemia results from increased bilirubin production, decreased hepatic uptake, or impaired conjugation.
• Gilbert syndrome, a common hereditary cause, involves UGT1A1 gene mutations, typically presenting with bilirubin levels of 1.2-3.0 mg/dL.

Observation:

• A 24-year-old male presented with jaundice and markedly elevated indirect hyperbilirubinemia (10.3 mg/dL).
• The patient had no significant past medical history and was otherwise asymptomatic.

Findings:

• The presented bilirubin level significantly exceeds the typical range observed in Gilbert syndrome.
• This suggests potential atypical presentations or other underlying causes of unconjugated hyperbilirubinemia.

Implications:

• This case underscores the importance of considering atypical hereditary hyperbilirubinemia presentations.
• Further investigation may be warranted to identify the precise genetic or metabolic basis for such elevated levels.
• Understanding these variations is crucial for accurate diagnosis and management of hyperbilirubinemia.