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Gilbert's disease/syndrome
A common, benign hereditary form of hyperbilirubinemia & jaundice.
Etiology:
- UDP-glucuronyltransferase 1 deficiency
Epidemiology:
- 3-7% of US population; up to 5% [4]
Pathology:
- inadequate conjugation of bilirubin leads to an accumulation of unconjugated bilirubin.
Genetics:
- autosomal dominant
- associated with defects in UGT1A1,UGT1A4 genes
Clinical manifestations:
1) patients are generally asymptomatic
2) jaundice may occur during times of stress such as starvation, illness, or alcohol consumption
3) patients may present as young adults with vague nonspecific complaints
Laboratory:
1) unconjugated bilirubin serum levels range from 1-6 mg/dL, generally < 4 mg/dL [4]
2) diagnosis is made by exclusion of hemolysis & intrinsic liver disease as the etiology of unconjugated hyperbilirubinemia
- reticulocyte count is normal (up to 1.5%)
- direct antiglobulin test unnecessary if reticulocyte count & peripheral blood smeal are normal [2]
- serum ALT & serum AST are normal
3) nicotinic acid-induced hyperbilirubinemia
4) UGT1A1 gene mutation
Management:
- phenobarbital induces defective enzyme & will decrease plasma unconjugated bilirubin, but treatment is generally unnecessary
Related
bilirubin
General
bilirubin metabolism, inborn error
Properties
ACCUMULATION: bilirubin
Database Correlations
OMIM correlations
References
- Clinical Chemistry, Theory, Analysis & Correlation,
2nd ed., Kaplan & Pesce (eds), CV Mosby, St.Louis,
1989 pg 359,559
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015
- Ehmer U, Kalthoff S, Fakundiny B et al
Gilbert syndrome redefined: a complex genetic haplotype
influences the regulation of glucuronidation.
Hepatology. 2012 Jun;55(6):1912-21.
PMID: 22213127
- NEJM Knowledge+ Gastroenterology