Dubin-Johnson syndrome (DJS) is a benign hereditary liver disease described by Dubin and Johnson in 1954. This benign disorder is characterised by chronic hyperbilirubinaemia (excess of predominantly conjugated bilirubin) and histopathological deposits of brownish-black pigments in liver parenchymal cells.
JDS is caused by the presence of homozygous or compound heterozygous mutations in the ABCC2 gene coding for the ion transport protein in the liver.
The prevalence of JDS in the general population is unknown and the syndrome affects individuals of all ethnicities, but is most common among Iranian and Moroccan Jews, with a peak prevalence of 1 case per 1,300 individuals.
Adolescent or young adult patients usually present with mild to moderate recurrent jaundice, without pruritus, usually triggered by intercurrent illness, pregnancy, oral contraceptives or medications. Fatigue and abdominal pain are occasionally observed during flares and, in rare cases, hepatosplenomegaly (enlargement of the liver and spleen) may occur.
The level of bile in the liver and spleen may be higher than that of the spleen.
The serum total bilirubin level, particularly of the conjugated form, is elevated, usually between 2 and 5 mg/dl (very rarely above 20 mg/dl).
JDS is benign, has no long-term consequences and does not require treatment. Diagnosis of JDS is important to eliminate the possibility of other hepatobiliary disorders that can cause liver injury.