ConditionDigestive system
Dubin-Johnson Syndrome
Dubin-Johnson syndrome is a rare inherited liver condition in which the liver cannot efficiently pump conjugated (processed) bilirubin out into the bile. Bilirubin builds up in the blood, causing mild, often intermittent yellowing of the eyes and skin. The liver itself works normally apart from this, though it turns a dark color from pigment deposits. It is harmless, needs no treatment, and life expectancy is normal. The main importance is recognizing it so it is not mistaken for serious liver disease.
Also called: DJS, hereditary conjugated hyperbilirubinemia, chronic idiopathic jaundice, black liver jaundice
At a glance
- What it is
- An inherited defect in bilirubin transport out of liver cells.
- Cause
- Changes in the ABCC2 gene, inherited in an autosomal recessive pattern.
- Main sign
- Mild, fluctuating jaundice with high conjugated (direct) bilirubin and otherwise normal liver tests.
- Triggers
- Pregnancy, estrogen-containing contraceptives, illness and stress can make jaundice more noticeable.
- Treatment
- None needed. Outlook is excellent.
When to get help
See a doctor within a day or two
- New yellowing of the skin or eyes that has not been diagnosed, especially with pale stools, dark urine, itching, fever or belly pain (needs investigation to rule out blockage or hepatitis)
- Jaundice with confusion, easy bruising or a swollen belly
- Severe itching or jaundice in pregnancy
Book a routine appointment
- Mild, recurring yellow eyes with abnormal bilirubin on blood tests
- Known Dubin-Johnson syndrome and planning pregnancy or hormonal contraception
Usually safe to manage at home
- Known, diagnosed Dubin-Johnson syndrome with a mild flare of yellow eyes during an illness, with no other symptoms
How Dubin-Johnson syndrome happens
The liver takes up bilirubin, a yellow pigment from the breakdown of red blood cells, and attaches it to sugar molecules (conjugation), making it water-soluble. A transport protein called MRP2, coded by the ABCC2 gene, then pumps the conjugated bilirubin out of liver cells into the bile.
In Dubin-Johnson syndrome, MRP2 is faulty or missing. Conjugated bilirubin leaks back into the blood, causing conjugated hyperbilirubinemia. A dark pigment also accumulates in liver cells, giving the liver a characteristic black or dark-brown color, though this does not damage it.
The condition is inherited in an autosomal recessive pattern: a person must inherit a faulty copy from each parent. Parents who each carry one copy usually have no symptoms. It has been reported in many populations and is more common in some, including Iranian and other Middle Eastern Jewish communities.
Symptoms
- Mild jaundice: yellowing of the whites of the eyes or skin, often first noticed in the teens or early adulthood.
- Intermittent pattern: jaundice may come and go, becoming more obvious during illness, fasting, alcohol use, stress, pregnancy or when taking estrogen-containing contraceptives.
- Dark urine when bilirubin is high.
- Vague symptoms such as mild belly discomfort or tiredness in some people.
- No symptoms in many people, discovered only through routine blood tests.
Itching is not typical, which helps distinguish it from conditions that block bile flow.
How it differs from other causes of jaundice
| Condition | Type of bilirubin raised | Key features |
|---|---|---|
| Dubin-Johnson syndrome | Conjugated (direct) | Benign, dark liver, abnormal urinary coproporphyrin pattern |
| Rotor syndrome | Conjugated (direct) | Benign, normal liver color, different coproporphyrin pattern |
| Gilbert syndrome | Unconjugated (indirect) | Very common, benign, jaundice with fasting or illness |
| Crigler-Najjar syndrome | Unconjugated | Rare, can be severe in infancy |
| Hepatitis and bile duct blockage | Conjugated | Abnormal liver enzymes, symptoms of illness, itching, pale stools |
Diagnosis
Because conjugated hyperbilirubinemia can signal serious liver or bile duct disease, doctors first rule out other causes.
- Blood tests: raised total and direct bilirubin, with normal liver enzymes (ALT, AST, alkaline phosphatase, GGT), albumin and clotting.
- Imaging: ultrasound shows normal bile ducts without blockage. In a HIDA scan, the gallbladder often appears late or not at all, even though the liver takes up the tracer.
- Urinary coproporphyrin test: total coproporphyrin is usually normal, but more than 80 percent is the isomer I form. This pattern is characteristic.
- Genetic testing: confirms changes in the ABCC2 gene.
- Liver biopsy: rarely needed now. It shows a dark pigment in otherwise normal liver tissue.
Treatment
No treatment is needed. Helpful steps include:
- Telling doctors about the diagnosis, so future abnormal bilirubin results are interpreted correctly and unnecessary tests are avoided.
- Discussing contraception: estrogen-containing pills can worsen jaundice. Other methods may be preferred.
- Planning pregnancy with your doctor, as jaundice can become more noticeable during pregnancy, though it is not harmful to the baby.
- Being cautious with some medicines that are cleared through MRP2, and reviewing new prescriptions with your doctor or pharmacist.
Outlook
Dubin-Johnson syndrome does not cause liver damage, cirrhosis or liver failure. Life expectancy is normal. Jaundice may come and go throughout life.
Frequently asked questions
What is Dubin-Johnson syndrome?
Dubin-Johnson syndrome is a rare inherited condition in which the liver cannot efficiently move processed (conjugated) bilirubin into the bile. Bilirubin builds up in the blood and causes mild jaundice. It is harmless, the liver works normally otherwise, and no treatment is needed.
What causes Dubin-Johnson syndrome?
It is caused by changes in the ABCC2 gene, which makes a transport protein called MRP2. The condition is autosomal recessive, meaning a person inherits one faulty copy from each parent. Parents who carry one copy usually have no symptoms.
Is Dubin-Johnson syndrome dangerous?
No. It does not cause liver damage or shorten life. The main risk is being misdiagnosed with more serious liver disease, leading to unnecessary tests. Jaundice may become more noticeable with pregnancy, estrogen-containing contraceptives or illness.
What is the difference between Dubin-Johnson and Rotor syndrome?
Both are harmless inherited conditions that raise conjugated bilirubin. In Dubin-Johnson syndrome the liver is dark from pigment, and most urinary coproporphyrin is the isomer I type with a normal total. In Rotor syndrome the liver looks normal and total urinary coproporphyrin is raised.
Sources
This guide was written from current patient and clinical guidance, including:
- MedlinePlus Genetics: Dubin-Johnson syndrome
- National Organization for Rare Disorders (NORD): Dubin-Johnson syndrome
- NIH Genetic and Rare Diseases Information Center (GARD): Dubin-Johnson syndrome
- StatPearls (NCBI Bookshelf): Dubin-Johnson syndrome
- American College of Gastroenterology: Clinical guideline, evaluation of abnormal liver chemistries