Summary
Definition
History and exam
Key diagnostic factors
- postpubertal age
- positive family history of GS
- icterus (jaundice)
- absence of hepatosplenomegaly
- no stigmata of chronic liver disease
Risk factors
- postpubertal age
- family history of GS
- type 1 diabetes mellitus
Diagnostic tests
1st tests to order
- unconjugated bilirubin
- liver aminotransferases
- gamma-glutamyl transpeptidase
- lactate dehydrogenase
- CBC
- peripheral blood smear
- direct Coombs' test
Tests to consider
- liver biopsy
- plasma unconjugated bilirubin response to fasting
- plasma unconjugated bilirubin response to nicotinic acid
- UGT1A1 genotyping
- UDPGT enzyme activity
Treatment algorithm
all patients
Contributors
Authors
Nathalie Khoury, MD
Clinical Fellow - Transplant Hepatology
University of Nebraska Medical Center
Omaha
NE
Disclosures
NK declares that she has no competing interests.
Marco A. Olivera-Martinez, MD, FACP, FAASLD
Professor of Medicine
Gastroenterology & Hepatology
University of Nebraska Medical Center
Omaha
NE
Disclosures
MAOM declares that he has no competing interests.
Acknowledgements
Dr Marco A. Olivera-Martinez would like to gratefully acknowledge Dr Brian Ward and Dr John L. Gollan, the previous contributors to this topic.
Disclosures
BW declares that he has no competing interests. JLG is an author of a reference cited in the topic.
Peer reviewers
Lefkothea P. Karaviti, MD, PhD
Professor of Pediatrics
Division of Endocrinology and Metabolism
Baylor College of Medicine
Texas Children's Hospital
Houston
TX
Disclosures
LPK declares that she has no competing interests.
John T. Jenkins, MB, CHB, FRCP
Consultant Surgeon
St. Mark's Hospital
London
UK
Disclosures
JTJ declares that he has no competing interests.
References
Key articles
Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995 Nov 2;333(18):1171-5.Full text Abstract
King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull. 2019 Feb;57(2):27-31. Abstract
Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Hemolysis
- Cirrhosis
- Cardiac disease (e.g., congenital heart disease and valvular heart disease)
More Differentials
Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer