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Dubin Johnson Syndrome


Overview

Dubin Johnson syndrome (DJS) is a rare, benign genetic liver disorder. It is inherited in an autosomal recessive pattern and is characterized by buildup of bilirubin, which is normally excreted by the liver into the bile. DJS is caused by a defect (gene mutation) in the transporter protein that is responsible for moving the bilirubin, a normal breakdown product of red blood cells, into the bile which then leaves the body through the stool. It is a rare entity that is most often seen in Middle Eastern Jewish and Japanese people. In the Jewish population, about 60% of affected individuals also have an associated blood clotting abnormality, a prolonged prothrombin time (PT), caused by a decrease in factor VII. Most patients are asymptomatic and the other tests that are routinely used to measure liver function are normal. At times there can be jaundice, a yellowish color of the white portion of the eyes, and rarely a slightly enlarged and tender liver. A characteristic aspect of DJS (which is actually unknown to the patient) is that the retained bilirubin pigment gives the liver a unique black color. Onset usually occurs during puberty or adulthood, but it has rarely been described in the newborn period. Use of alcohol, birth control pills, infection, and pregnancy can lead to an increase in jaundice. In almost all cases, the most important aspect of DJS is recognizing that there is not a more serious cause of the jaundice.

Synonyms

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

SYMPTOMS 

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).

Causes 

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.

DJS is a very rare genetic disorder. In order to inherit the condition, a child must get a copy of the defective gene from both parents.

The syndrome interferes with the body's ability to move bilirubin through the liver into the bile. When the liver and spleen break down worn out red blood cells, bilirubin is produced. Bilirubin normally moves into the bile, which is produced by the liver. It then flows into the bile ducts, is stored in the gallbladder, and then flows into the digestive system.

When bilirubin is not properly transported into the bile, it builds up in the bloodstream. This causes the skin and the whites of the eyes to turn yellow. This is called jaundice. Severely high levels of bilirubin can damage the brain and other organs.

People with DJS have lifelong mild jaundice that may be made worse by:

  • Alcohol
  • Birth control pills
  • Environmental factors that affect the liver
  • Infection
  • Pregnancy
  • Fasting or dehydration
  • Fatigue

MANAGEMENT AND TREATMENT

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.

PREVENTION

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.

OUTLOOK / PROGNOSIS

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

LIVING WITH

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?

FREQUENTLY ASKED QUESTIONS

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.

1.    Types of doctor department :-  Hepatologist specializes in detecting liver diseases


1.    Hepatologist specializes in detecting liver diseases

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