Gilbert Disease
Joseph Misdraji, MD
Key Facts
Terminology
Inherited unconjugated hyperbilirubinemia due to mutation of promoter of UGT1A1 gene
Etiology/Pathogenesis
Decreased transcription of UGT1A1 gene results in decreased conjugation of bilirubin
Affected patients usually have comorbid conditions that increase bilirubin load
Clinical Issues
Unconjugated hyperbilirubinemia particularly during illness, fasting, or menstruation
No treatment necessary
Decreased conjugation of some drugs results in increased risk of adverse effect to those drugs
Microscopic Pathology
Increased lipofuscin in zone 3
No inflammation, fibrosis, or cirrhosis
 Hematoxylin & eosin shows subtle pigment accumulation in centrilobular hepatocytes  . |
 Hematoxylin & eosin at high power confirms the presence of increased lipofuscin pigment  in centrilobular hepatocytes. |
TERMINOLOGY
Definitions
Inherited unconjugated hyperbilirubinemia due to mutations of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) gene
ETIOLOGY/PATHOGENESIS
Genetic Disorder
Extra TA in TATAA box of UGT1A1 promoter (this variant is known as UGT1A1*28) is the most common genetic variant among whites
Gene transcription ↓ to 20% of normal levels
Decreased conjugation of bilirubin with glucuronic acid
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