History and exam

Key diagnostic factors

common

presence of risk factors

Most commonly presents in people aged 10 to 30 years.[6] There may be a family history of DJS, particularly among the Iranian or Moroccan Jewish population, where the disorder has a higher prevalence.[16][17][18]

intermittent jaundice

Jaundice is typically not present chronically. It is intermittent in response to triggering factors such as illness, infection, or pregnancy.

lack of pruritus

By contrast with syndromes associated with true cholestasis, there is no pruritus.[6]

Other diagnostic factors

common

illness, infection, or stress

Jaundice may be brought on or exacerbated by an intercurrent illness, infection, or stress.[4]

pregnancy-triggered jaundice

Pregnancy can trigger jaundice, and DJS may first present in pregnancy. It is postulated that reduction of hepatic excretory function in pregnancy induced by sex steroids can transform mild hyperbilirubinaemia into frank jaundice.[6][16]

medication-triggered jaundice

Hyperbilirubinaemia is typically increased by administration of drugs that decrease hepatic excretion of organic anions, notably oral contraceptives.[28]

uncommon

abdominal pain

It is not unusual for patients with DJS to report vague abdominal complaints, although this is not believed to reflect serious pathology.[2][4]

fatigue

Some studies have reported that a few patients complain of weakness and fatigue, especially during an episode of increased jaundice.[3][4]

hepatomegaly

Although hepatomegaly is sometimes seen, liver function tests are otherwise normal, and increased size does not usually reflect any serious pathology.

Risk factors

strong

family history

DJS is inherited as an autosomal recessive condition. The molecular basis of the disorder is the absence of a functionally active multi-drug resistance-associated protein (MRP2), also known as canalicular multi-specific organic anion transporter (cMOAT).[19][20][21]

age 10 to 30 years

DJS can present at any age, but is generally diagnosed between the ages of 10 and 30 years.[6]

Iranian Jewish or Moroccan Jewish ethnicity

The highest recognised prevalence (1 case per 1300 people) is in Iranian Jews and is clustered in families. The prevalence in Moroccan Jews is nearly as high, reflecting the divergence of these populations 2000 to 2500 years ago.[16][17][18] Consanguinity is common in both of these populations.

weak

male sex

The exact sex ratio in the general population is unknown, but males predominate and present at an earlier age.[4][16][17]

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