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