Autosomal-recessive condition characterised by a predominantly conjugated hyperbilirubinaemia.
Patients are generally asymptomatic and jaundice may be an incidental finding.
Over 50% of the serum bilirubin is conjugated and bilirubinuria is typically present.
Symptomatically similar to Dubin-Johnson syndrome but the liver is histologically normal.
A benign condition with a normal life expectancy, and no specific therapy is required.
History and exam
Key diagnostic factors
- dark-coloured urine
Other diagnostic factors
- abdominal pain
- glucose-6-phosphate dehydrogenase deficiency
1st investigations to order
- serum total bilirubin
- serum conjugated bilirubin
- urinary bilirubin
- serum aminotransferases, alkaline phosphatase, and gamma-GT
- absolute reticulocyte count
- blood smear
- plasma haptoglobin
Investigations to consider
- serum bile acids (total)
- urinary coproporphyrins
- liver biopsy
- ultrasound of the liver and biliary tree
- oral cholecystogram
- cholescintigraphy with 99mTc-HIDA
- molecular genetic testing
- sulphobromophthalein (BSP) plasma retention test
- Dubin-Johnson syndrome
- Gilbert's syndrome
- Crigler-Najjar syndrome (type I and II)
- ACG clinical guideline: evaluation of abnormal liver chemistries
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