Key takeaways

  • Dubin-Johnson syndrome is a genetic condition that prevents the liver from properly removing bilirubin, leading to a harmless but permanent yellowing of the skin and eyes.
  • The syndrome results from inheriting altered ABCC2 genes from both parents, which impairs the function of a protein responsible for removing bilirubin from the liver.
  • Although there is no specific treatment, individuals with Dubin-Johnson syndrome typically live healthy lives by avoiding factors that can exacerbate jaundice, such as certain medications and alcohol.

Dubin-Johnson syndrome (DLS) is a rare genetic syndrome caused by genetic changes inherited from your parents. Although it is a benign condition, meaning it is essentially harmless, it does affect the liver, causing jaundice (yellowing) due to a buildup of bilirubin, a waste product of the normal breakdown of red blood cells.

Typically, bilirubin is processed by your liver and excreted in your urine and feces (poop). When it can’t be excreted, it builds up in your body and causes yellowing of your skin, eyes, or both. Individuals who have Dubin-Johnson syndrome have lifelong jaundice.

Read on to learn more about this rare condition, symptoms, diagnosis, treatment, and outlook.

DJS is caused by changes in the ABCC2 gene. It is an autosomal recessive condition, which means you need mutated genes from both parents to have the condition.

It affects the liver, impairing the body’s ability to excrete bilirubin, leading to lifelong jaundice, and causing the liver tissue to have a black appearance. Other than these, DJS doesn’t damage the liver.

The main symptom of DJS is mild jaundice. Rarely, people may experience other mild symptoms, such as mild abdominal pain, fatigue, or weakness.

DJS is caused by changes in the ABCC2 gene. It is an autosomal recessive condition, which means you need mutated genes from both parents to have the condition.

Changes in the ABCC2 gene alter production of a protein called the multidrug resistance protein 2 (MRP2). This protein is responsible for removing bilirubin from the liver. When this protein is changed, it leads to a mild buildup of bilirubin in the body and causes jaundice.

DJS is caused by mutations in the ABCC2 gene. Since it is a recessive genetic condition, both parents must carry an altered gene.

The only known risk factor is having family members who have the condition. Individuals who have family members – blood relatives – who have DJS may want to consider genetic counseling or testing before having children.

Other names for Dubin-Johnson syndrome include:

  • DJS
  • black liver-jaundice syndrome
  • chronic idiopathic jaundice
  • conjugated hyperbilirubinemia
  • hyperbilirubinemia II
  • Dubin-Sprinz syndrome

DJS is mainly diagnosed by blood tests that measure bilirubin and liver function. These tests typically show an elevated type of bilirubin called conjugated bilirubin and normal liver enzymes.

Other tests that may be used include:

  • Liver biopsy: This test is not performed to diagnose DJS, but it may have been ordered to rule out another liver condition while doctors are trying to diagnose why an individual has jaundice.
  • Urinary test: Individuals with DJS will have an abnormal urine screen for a substance called coproporphyrin.
  • Genetic screening: To look for changes in the ABCC2 gene.

Since DJS is a benign condition, typically no treatment is needed. However, individuals with DJS may be advised to avoid things that can worsen jaundice, such as:

  • some medications, like phenobarbital
  • alcohol
  • dehydration
  • infections

Since DJS is a benign condition, individuals who have it rarely have complications. Some people with DJS may experience abdominal pain or severe jaundice.

Very rarely, infants who have other liver diseases along with DJS may have extremely high bilirubin that can affect the brain and other organs.

People with DJS have an excellent outlook. They usually have no complications and live healthy lives with no restrictions. They may need to have additional health screenings to monitor liver function.

There is no cure, but the condition is mild and generally doesn’t need treatment.

There are several things that can make jaundice worse, such as:

  • pregnancy
  • fasting
  • dehydration
  • substances that affect your liver, like alcohol
  • some prescription medications

No. DJS typically has no symptoms besides mild jaundice, and it does not shorten life span.

Dubin-Johnson syndrome is a rare genetic condition that causes mild lifelong jaundice. It is a benign condition that typically doesn’t require treatment.

It’s important to have an accurate diagnosis as soon as possible to avoid unnecessary treatment, since it may be confused with other, more common causes of jaundice.