Autosomal recessive condition characterized by jaundice. Total bilirubin levels usually range between 1.5 and 6 mg/dL and more than one half is conjugated.
A dark pigment accumulates in the liver giving it a characteristic black color.
Primary defect is a mutation in an apical canalicular membrane protein responsible for excretion of bilirubin.
Jaundice is worsened by an intercurrent illness, pregnancy, and oral contraceptives.
A unique pattern of urinary excretion of coproporphyrins (by-products of heme synthesis) aids in the diagnosis.
It is a benign condition with a normal life expectancy and no specific treatment is required.
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
- family history
- age 10 to 30 years
- Iranian Jewish or Moroccan Jewish ethnicity
- male sex
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
Investigations to consider
- urinary coproporphyrin I to III ratio
- 99mTc hepatobiliary imino-diacetic acid (HIDA) scan (cholescintigraphy)
- liver biopsy
- urinary leukotriene metabolites
- mutational analysis of the ABCC2 gene
Anil Dhawan, MBBS, MD, FRCPCH
Professor of Paediatric Hepatology
King's College Hospital
AD declares he has no competing interests.
Tracy A.F. Coelho, MBBS, DCH, MRCPCH
Consultant Paediatric Gastroenterologist
University Hospital Southampton
TAFC declares that he has no competing interests.
John T. Jenkins, MB, CHB, FRCP
St. Mark's Hospital
JTJ declares that he has no competing interests.
Nancy Reau, MD
Assistant Professor of Medicine
University of Chicago
Center for Liver Disease
NR has received reimbursement for speaking for Gilead, maker of Viread and Hepsera, and BMS, maker of Baraclude.
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