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Dubin-Johnson Syndrome - Causes, Symptoms, and Diagnosis

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Dubin-johnson syndrome is a rare and chronic (present for a long term) inherited condition that results in an abnormal build-up of bilirubin in the blood.

Written byDr. Janani R S

Medically reviewed byDr. Basuki Nath Bhagat

Published At January 4, 2023
Reviewed AtFebruary 28, 2023

Introduction:

Dubin-Johnson syndrome is a genetic condition (runs in the family) that results due to excess storage of bilirubin. This is due to a mutation (alteration in the DNA structure) in the gene ABCC2 (ATP (adenosine triphosphate) binding cassette subfamily C member 2). This results in incomplete excretion of bilirubin from the liver.

What Is Dubin-Johnson Syndrome?

Dubin-Johnson syndrome is a genetically inherited condition that causes intermittent (comes and goes frequently) jaundice in the affected individuals. This condition occurs in individuals who receive mutated genes from both parents. If one parent has a gene defect, the child will be a carrier and will transfer the deformed gene to their offspring, who will acquire the condition. This is due to an abnormal accumulation of conjugated bilirubin in the body. The liver changes bilirubin into conjugated and unconjugated bilirubin. Conjugated bilirubin is water-soluble and is excreted out of the body through the bile into the intestine in the urine. The unconjugated bilirubin is not soluble in water and passes through the bloodstream, and binds with a protein called albumin in the plasma. It is not excreted in the urine.

What Causes Dubin-Johnson Syndrome?

Dubin-Johnson syndrome is caused due to mutations in the gene ABCC2. This gene is responsible for the production of a protein called multidrug resistance protein 2, which helps in transporting certain substances out of the body. The main function of the protein is to secrete conjugated (direct) bilirubin (a yellow pigment that is a byproduct that results during the processing of the red blood cells) into the bile. Bile is a fluid that is produced in the liver and excreted by the liver and plays an important role in digestion. The bile is passed on to the gallbladder, where it is stored. The gallbladder, during digestion, releases bile into the intestine, where it is excreted out of the body through feces (human waste). This mutation in the gene ABCC2 causes the improper functioning of the protein or production of an inactive protein, which results in improper excretion of bilirubin from the liver and results in the accumulation of bilirubin in the body (hyperbilirubinemia). It causes an excess build-up of bilirubin in the blood leading to jaundice.

What Are the Symptoms of Dubin-Johnson Syndrome?

  • Jaundice (the skin and eyes become yellow color) that comes on and off.

  • Dark-colored urine.

  • Mild abdominal pain (pain in the stomach region).

  • Nausea and vomiting.

  • Fever.

  • Feeling weak and tired.

What Is the Typical Syndrome of Dubin-Johnson Syndrome?

Mild jaundice usually appears after puberty. This is a typical and the only confirmatory symptom of Dubin-Johnson syndrome.

What Are the Tests to Find Dubin-Johnson Syndrome?

  • Liver Function Tests (LFT): A group of blood tests that involve screening of liver enzymes like alanine aspartate (ASP), alkaline phosphatase (ALP), and alanine transaminase (ALT), and proteins like albumin, globulin, and alpha-fetoprotein in the blood.

  • Serum Bilirubin Test: Bilirubin is produced by the liver during the breakdown of red blood cells. The liver discards or removes the bilirubin from our body. If there is liver damage, the liver fails to take bilirubin out of the body, and there is an excess storage of bilirubin in the blood. This results in jaundice, a condition that causes yellowish discoloration of the skin and eyes. High levels of bilirubin indicate liver disease.

  • Serum Albumin Test: Albumin is a protein produced by the liver. Albumin maintains the flow of fluids in the blood within the blood vessel. It also helps the movement of enzymes, hormones, medications, and nutrients like vitamins throughout the whole body. If the levels of albumin are lower than the normal range, it indicates liver disease.

  • Urine Coproporphyrin Levels: Coproporphyrin levels are elevated in this condition. Porphyrins are metabolites of heme synthesis. Porphyrin is a chemical naturally present in the body that helps carry substances like hemoglobin. Hemoglobin is a protein that carries oxygen in the blood. The coproporphyrin I levels are higher in this condition.

  • Genetic Test: A genetic test is performed to determine mutations in the ABCC2 gene.

  • Liver Biopsy: Liver biopsy is rarely performed as a diagnostic test. A small portion of the liver tissue is removed and visualized under a microscope to check for pathological changes. However, the black color of the liver can be viewed in this test.

When Do the Symptoms of Dubin-Johnson Syndrome Appear?

The condition is found in late teens and early adolescence. This condition does not show symptoms before puberty.

Is Liver Damaged in Dubin-Johnson Syndrome?

No, the liver is not damaged. This is a benign (non-cancerous) condition and does not cause any complications like cirrhosis (scarring of healthy liver tissues). However, abnormal accumulation of other substances that are not excreted out of the liver gives a dark or black color appearance to the liver.

What Is the Treatment for Dubin-Johnson Syndrome?

Dubin-Johnson syndrome has no particular treatment. The patients should also be instructed that pregnancy, consuming alcohol, and taking oral contraceptive pills can aggravate (worsen) jaundice.

What Are the Complications of Dubin-Johnson Syndrome?

There are no possible complications of Dubin-Johnson syndrome. Through pregnancy, alcohol consumption and oral contraceptive pill use can trigger jaundice.

Does Intake of Other Medications Affect the Liver in Dubin-Johnson Syndrome?

Since drug (medications) metabolization happens in the liver, care should be taken by the doctor when prescribing medications that do not induce pressure on the liver.

Do Newborn Babies Get Affected With Dubin-Johnson Syndrome?

Yes, newborn babies are affected but rarely show symptoms of jaundice. They show other symptoms like enlarged liver and cholestasis. Cholestasis is a condition with extremely low productivity, and release of the digestive substance called bile. The liver condition will resolve as the child grows older.

What Is the Prevention and Prognosis of Dubin-Johnson Syndrome?

The prognosis is good, with a normal life expectancy. This condition cannot be prevented. Genetic counseling may be considered if there is a family history of Dubin-Johnson syndrome.

Is Patient Education Needed?

Yes, patient education is important, and they need to know that no further investigational tests are required once the diagnosis is confirmed since this is a genetically inherited, rare, and benign condition.

Conclusion:

Dubin-Johnson syndrome is a rare, benign, and hereditary condition. It shows symptoms like intermittent jaundice, usually after puberty. This symptom occurs lifelong. This symptom is typical of Dubin-johnson syndrome. Though there are no treatments and treatment is not generally required, it does not cause any serious complications. It can create a condition called cholestasis in newborn babies. This will be monitored by a gastroenterologist (specialist for gastrointestinal diseases). A few symptoms and lab investigation of serum bilirubin reports confirm Dubin-johnson syndrome. Though this is an existing lifelong condition, this is not serious and does not affect the affected person's lifespan. Though alcohol consumption, pregnancy, and taking birth control pills can trigger the symptoms of jaundice, the affected person has a normal life span with no liver complications.

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Frequently Asked Questions

Dubin-Johnson syndrome usually only manifests as jaundice, although some individuals may feel weak or experience moderate abdominal pain, nausea, or vomiting. Most Dubin-Johnson syndrome patients develop specific liver deposits, but they do not appear to affect liver function.
Due to their clinical similarity, Rotor syndrome and Dubin-Johnson syndrome (DJS) must be distinguished. In addition, Rotor syndrome can be characterized by DJS by the absence of dark melanin-like stains on liver biopsy.
The ABCC2 gene undergoes alterations (mutations), which result in Dubin-Johnson syndrome. Multidrug resistance protein two is encoded by this gene (MRP2).
Jaundice is a hallmark of the autosomal recessive disease Dubin-Johnson syndrome. The typical ranges are between two and five mg/dL of total bilirubin, with higher plasma-conjugated bilirubin levels.
After passing through the liver, bilirubin is eventually eliminated from the body. Increased bilirubin levels could signify several different liver or bile duct issues. Increased red blood cell oxidation can occasionally result in greater bilirubin levels.
High bilirubin levels can occur from the rapid destruction of red blood cells, which autoimmune disorders like lupus can bring on, cancers like leukemia and lymphoma, and drugs like Penicillin, Acetaminophen, Ibuprofen, and interferon.
The most typical symptom of Gilbert syndrome is a sporadic yellowing of the skin and eye whites as a result of modestly elevated blood bilirubin levels. Bilirubin levels may rise in patients with Gilbert syndrome due to illness, such as the flu or a cold.
The following measures should be taken to lower the bilirubin level:
- Consume more fiber.
- Less alcohol.
- More fruits and vegetables.
- Lots of water.
As the liver develops, bilirubin levels can reach a maximum of 18 mg/dL on the fourth or fifth day, and jaundice usually goes away within two weeks. In addition, eight to 12 meals a day help to encourage regular bowel movements, which aid in the body's removal of bilirubin.
Jaundice can develop when bilirubin levels in the blood reach 2.0 mg/dL. Jaundice causes the skin, mucous membranes, or eyes to turn yellow. The most frequent cause of monitoring bilirubin levels is jaundice.
Jaundice takes at least six months to recover from. The liver needs this time to reestablish its effectiveness. The functioning of the liver and the enzymes it produces thus need to be regularly examined.
During the recovery from jaundice, avoid or limit the following foods and beverages:
- Alcohol.
- Trans fats and saturated fats.
- Refined carbohydrates.
- Prepared, canned, and smoked foods.
- Packaged foods.
- Pork and beef.
 
- Undercooked or raw fish or shellfish.
A blood total bilirubin level of more than 17.5 mg/dL (300 mmol/L) is a criterion for predicting death and the need for liver transplantation in individuals with hepatitis-induced acute liver failure. High bilirubin levels can be harmful and cause difficulties, especially in neonates.
People with Crigler-Najjar syndrome type 2 have been demonstrated to benefit from phenobarbital treatment by lowering plasma bilirubin levels. The drug's use (in divided doses) can reduce serum bilirubin levels by at least 25 percent when given between 60 and 180 mg daily.
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Dr. Basuki Nath Bhagat from iCliniq
Dr. Basuki Nath Bhagat

Family Physician

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