Dubin-Johnson Syndrome

Dubin-Johnson syndrome is a rare genetic condition that causes chronic jaundice. Jaundice is a yellowing of the skin and eyes. This happens when the liver has trouble moving a substance called bilirubin into bile.

Bilirubin is a yellow pigment that forms when your body breaks down old red blood cells. Normally, the liver processes bilirubin and sends it into bile, which leaves the body through stool. In Dubin-Johnson syndrome, a genetic mutation prevents liver cells from properly secreting conjugated bilirubin into bile. This causes bilirubin to build up in the blood, leading to jaundice.

The condition is inherited in an autosomal recessive pattern. This means both parents must pass down the abnormal gene for a child to have the syndrome. Most people with Dubin-Johnson syndrome live normal, healthy lives. The condition does not cause liver damage or reduce life expectancy. The main symptom is mild to moderate jaundice that comes and goes.

• Yellowing of the skin and whites of the eyes, which may come and go
• Dark urine that looks tea-colored or brown
• Mild fatigue or weakness during jaundice episodes
• Mild abdominal discomfort, though this is less common
• Nausea or vomiting, especially during illness or stress

Many people with Dubin-Johnson syndrome have no symptoms at all. Some only discover the condition through routine blood work. Symptoms often appear during adolescence or early adulthood. They may worsen during illness, pregnancy, or when taking certain medications.

Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. This gene provides instructions for making a protein that helps transport conjugated bilirubin out of liver cells. When both copies of this gene are mutated, the protein does not work properly. Bilirubin builds up inside liver cells and leaks back into the bloodstream.

Risk factors include having parents who both carry the gene mutation. The condition is more common in certain populations, including Iranian Jews and some Middle Eastern communities. Symptoms can be triggered or worsened by alcohol use, fasting, infections, pregnancy, or medications that stress the liver. Birth control pills may also worsen jaundice in some women with the condition.

Doctors diagnose Dubin-Johnson syndrome through blood tests that measure bilirubin levels. People with this condition have elevated direct bilirubin, also called conjugated bilirubin. Total bilirubin is also usually high. Other liver function tests are typically normal, which helps rule out liver disease or damage.

Additional testing may include genetic testing to confirm mutations in the ABCC2 gene. A liver biopsy may show dark pigment in liver cells, though this is rarely needed for diagnosis. Imaging tests like ultrasound help rule out other causes of jaundice. Talk to a doctor if you experience persistent jaundice or have a family history of this condition.

• No specific treatment is needed in most cases, as the condition is benign
• Avoid alcohol and medications that can stress the liver
• Stay hydrated and maintain regular eating patterns
• Discuss any new medications with your doctor before starting them
• Monitor bilirubin levels periodically through blood tests
• Manage triggers like stress, illness, and fasting that worsen jaundice
• Women may need to avoid estrogen-containing birth control pills
• Genetic counseling may help families understand inheritance risks