Dubin-Johnson Syndrome

What is Dubin-Johnson syndrome?

Dubin-Johnson syndrome is a rare genetic condition that affects your liver. A genetic mutation causes a buildup of bilirubin in your body. Bilirubin is a yellow substance produced when red blood cells reach the end of their lifespan. Bilirubin should release into your bile, a substance to help move waste out of your liver and digestive system. Instead, bilirubin collects in your liver and bloodstream and causes symptoms of jaundice, where your skin and the whites of your eyes appear yellow.

Who does Dubin-Johnson syndrome affect?

Dubin-Johnson syndrome can affect anyone at any age since it’s a genetic condition. You can inherit the condition if both of your parents pass the gene that causes the condition to you during conception (autosomal recessive pattern). If you receive only one copy of the gene from one of your parents, you’ll be a carrier of the condition but you won’t have symptoms.

How common is Dubin-Johnson syndrome?

The exact rate of occurrence is unknown. Dubin-Johnson syndrome has a high prevalence among people living in Iran, Iraq, Morocco and Japan, where an estimated 1 in 1,300 people have the condition.

How does Dubin-Johnson syndrome affect my body?

Dubin-Johnson syndrome causes a yellow waste substance to build up in your liver (bilirubin). This causes your skin and the whites of your eyes to appear yellow. You might not notice the yellow tone of your skin in low-light settings (indoors), but the yellow hue might be more vibrant in natural light (outdoors). Jaundice often appears on your face at first and can spread to your chest, stomach and other parts of your body. You might notice jaundice by looking in the mirror, opening your mouth and checking the reflection of your tongue. Jaundice can change the color of the area under your tongue to be yellow as well.

What are the symptoms of Dubin-Johnson syndrome?

Nearly all people diagnosed with Dubin-Johnson syndrome will experience symptoms of jaundice caused by bilirubin collecting in their liver including:

• Yellow tone to your skin and the whites of your eyes.
• Changes to the color of your pee (urine).

Jaundice may worsen during times of stress to the body, such as other illnesses, pregnancy and if you take oral contraceptives. Other symptoms may occur but are usually mild and include:

• Fatigue.
• Abdominal pain.

Dubin-Johnson is a benign (not hurtful) condition.

Imaging and blood tests could show symptoms that include:

• Deposits that build up in your liver, making it look black (if a piece of tissue from your liver is taken during a biopsy).
• An enlarged liver (hepatomegaly).

What causes Dubin-Johnson syndrome?

A mutation of the ABCC2 gene causes Dubin-Johnson syndrome. The ABCC2 gene is responsible for making a protein that removes waste from cells, specifically, it removes bilirubin (a yellow substance made up of the remains of red blood cells at the end of a cell’s lifecycle) from cells in your liver and moves it as bile (digestive fluid).

If you have Dubin-Johnson syndrome, your body can’t remove the bilirubin waste from cells. This causes substances like bilirubin to collect in your body (hyperbilirubinemia), which causes symptoms, like jaundice, to appear.

How is Dubin-Johnson syndrome diagnosed?

Your provider will diagnose Dubin-Johnson syndrome after providing a physical exam to look at your symptoms and learn more about your medical and family history.

Your provider will order tests to verify your diagnosis including:

• Imaging tests (X-ray, ultrasound) of your liver.
• Blood tests (bilirubin test).
• Urine tests.
• Possibly a liver biopsy.

A high bilirubin test result will lead to a diagnosis of hyperbilirubinemia (too much bilirubin in your blood). If your symptoms persist, your provider will order a genetic blood test to identify the gene that causes your symptoms. The genetic test confirms a diagnosis of Dubin-Johnson syndrome.

How is Dubin-Johnson syndrome treated?

Treatment isn’t necessary for people diagnosed with Dubin-Johnson syndrome. If you do need treatment, it’s generally to treat the illness or process that triggered increased bilirubin. If you have a cold, stay hydrated. If your symptoms worsen due to medications, then your provider will recommend that you stop taking the medication.

What can make symptoms of Dubin-Johnson syndrome worse?

Dubin-Johnson syndrome causes lifelong symptoms of jaundice. Symptoms could increase if you:

• Drink alcohol.
• Take birth control pills.
• Have an infection.
• Become pregnant.

Talk to your provider if your symptoms get worse for treatment options to help you feel better.

How can I prevent Dubin-Johnson syndrome?

You can’t prevent Dubin-Johnson syndrome since it’s a genetic condition. If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk to your provider about genetic testing or genetic counseling.

What can I expect if I have Dubin-Johnson syndrome?

People diagnosed with Dubin-Johnson syndrome have a positive prognosis. There is no cure for the condition and treatment is symptomatic and usually not necessary. The condition doesn’t affect a person’s lifespan.

When should I see my healthcare provider?

Visit your healthcare provider if your symptoms of Dubin-Johnson syndrome get worse, especially if your jaundice causes you to feel flu-like symptoms including:

• Abdominal pain.
• Fever.
• Fatigue.
• Nausea or vomiting.

What questions should I ask my doctor?

• Do I need treatment for my symptoms?
• Will my child inherit this condition?
• What should I do if my symptoms make me feel ill?

What is the difference between Dubin-Johnson syndrome and Rotor syndrome?

Dubin-Johnson syndrome and Rotor syndrome are both genetic conditions that share similar symptoms of jaundice. The main difference between both conditions is the cause. A genetic mutation of the ABCC2 gene causes Dubin-Johnson syndrome. A genetic mutation of the SLCO1B1 and SLCO1B3 genes cause Rotor syndrome. Rotor syndrome can also significantly affect how your body handles certain medications, so it’s very important that your doctor knows that you or your child has Rotor syndrome before prescribing certain medications.

In addition, Rotor syndrome doesn’t cause the color of your liver to change, whereas people diagnosed with Dubin-Johnson syndrome have a black liver.

A note from Cleveland Clinic

You might be worried if you or your child has a yellow appearance because of jaundice. While jaundice is common in newborns, jaundice caused by Dubin-Johnson syndrome is a persistent, lifelong condition. Your healthcare provider will walk you through treatment options if they’re necessary to reduce the yellow tone of your eyes and skin and any additional symptoms that might arise. Stay up to date with your healthcare provider about your symptoms to make sure you’re healthy.