Last reviewed:October 2019
Last updated:October  2019

Summary

Definition

History and exam

Key diagnostic factors

  • intermittent jaundice
  • lack of pruritus

Other diagnostic factors

  • illness, infection, or stress
  • pregnancy-triggered jaundice
  • medication-triggered jaundice
  • abdominal pain
  • fatigue
  • hepatomegaly

Risk factors

  • family history
  • age 10 to 30 years
  • Iranian Jewish or Moroccan Jewish ethnicity
  • male sex

Diagnostic investigations

1st investigations to order

  • serum bilirubin
  • serum alkaline phosphatase
  • serum liver aminotransferases (aspartate aminotransferase and alanine aminotransferase)
  • serum albumin
  • serum gamma-glutamyl transferase
  • serum bile acids
  • clotting profile
Full details

Investigations to consider

  • urinary coproporphyrin I to III ratio
  • 99mTc hepatobiliary imino-diacetic acid (HIDA) scan (cholescintigraphy)
  • liver biopsy
Full details

Emerging tests

  • urinary leukotriene metabolites
  • mutational analysis of┬áthe ABCC2 gene
Full details

Treatment algorithm

Contributors

Anil Dhawan

Professor of Paediatric Hepatology

King's College Hospital

London

UK

Disclosures

AD declares he has no competing interests.

Tracy A.F. Coelho

Consultant Paediatric Gastroenterologist

University Hospital Southampton

Southampton

UK

Disclosures

TAFC declares that he has no competing interests.

Peer reviewersVIEW ALL

Consultant Surgeon

St. Mark's Hospital

London

UK

Disclosures

JTJ declares that he has no competing interests.

Assistant Professor of Medicine

University of Chicago

Center for Liver Disease

Chicago

IL

Disclosures

NR has received reimbursement for speaking for Gilead, maker of Viread and Hepsera, and BMS, maker of Baraclude.

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