Question 1

What is Dubin-Johnson syndrome?

Accepted Answer

Dubin-Johnson syndrome is a rare, inherited disorder that affects the liver's ability to process and secrete bilirubin, resulting in chronic jaundice. It is caused by a genetic mutation in the ABCC2 gene that impairs the transport of conjugated bilirubin from liver cells into bile. The Bilirubin, Direct test is the most important test for diagnosis because it reveals the characteristic elevation of conjugated bilirubin that defines this condition.

Question 2

What causes Dubin-Johnson syndrome?

Accepted Answer

Dubin-Johnson syndrome is caused by a genetic mutation in the ABCC2 gene, which is inherited in an autosomal recessive pattern. This mutation affects the production or function of a protein called MRP2 (multidrug resistance-associated protein 2), which is responsible for transporting conjugated bilirubin from liver cells into the bile ducts. When this protein does not work properly, conjugated bilirubin accumulates in the liver and backs up into the bloodstream, causing the characteristic yellow discoloration of the skin and eyes known as jaundice.

Question 3

What is the best test for Dubin-Johnson syndrome?

Accepted Answer

The Bilirubin, Direct test is the most important test for Dubin-Johnson syndrome because it specifically measures conjugated bilirubin levels in the blood, which become significantly elevated in this condition. People with Dubin-Johnson syndrome show a characteristic pattern where direct bilirubin is disproportionately high compared to indirect bilirubin. The Bilirubin, Total test is also essential as a companion test because it measures the combined levels of both direct and indirect bilirubin, helping doctors calculate the ratio and confirm that the elevation is primarily in the conjugated form. This distinctive pattern of elevated direct bilirubin with a high direct-to-total ratio helps distinguish Dubin-Johnson syndrome from other causes of jaundice.

Question 4

When should I get tested for Dubin-Johnson syndrome?

Accepted Answer

You should get tested if you notice persistent yellowing of your skin or the whites of your eyes, especially if multiple family members have experienced similar symptoms. Testing is also recommended if you have unexplained episodes of jaundice that worsen during illness, pregnancy, or when taking certain medications, or if routine blood work shows elevated bilirubin levels without an obvious cause. Because Dubin-Johnson syndrome is genetic, testing is particularly important if you have a family history of chronic jaundice or if you are planning to have children and want to understand your carrier status.

Question 5

What are the symptoms of Dubin-Johnson syndrome?

Accepted Answer

The primary symptom of Dubin-Johnson syndrome is chronic or intermittent jaundice, which causes a yellowish discoloration of the skin and eyes. Some people experience mild abdominal discomfort or fatigue, particularly during episodes when bilirubin levels are higher. Many individuals with this condition have no symptoms at all and are only diagnosed when elevated bilirubin is discovered during routine blood work. Symptoms may become more noticeable during periods of stress, illness, pregnancy, or when taking certain medications that affect liver function.

Question 6

Who is at risk for Dubin-Johnson syndrome?

Accepted Answer

Dubin-Johnson syndrome affects people who inherit two copies of the mutated ABCC2 gene, one from each parent. It is most common in people of Iranian Jewish, Sephardic Jewish, and Middle Eastern descent, though it can occur in any ethnic group. If both parents are carriers of the gene mutation, each child has a 25% chance of developing the syndrome. The condition typically becomes apparent in adolescence or early adulthood, though some people are diagnosed in childhood or remain undiagnosed throughout their lives if symptoms are mild.

Question 7

What happens if Dubin-Johnson syndrome is left untreated?

Accepted Answer

Dubin-Johnson syndrome is a benign condition that does not cause liver damage or reduce life expectancy, so not receiving a formal diagnosis does not lead to serious health consequences. However, getting tested and receiving a proper diagnosis is important to avoid unnecessary medical procedures and anxiety about more serious liver diseases. Without diagnosis, people may undergo extensive testing or receive inappropriate treatments for other suspected liver conditions. Knowing you have Dubin-Johnson syndrome also helps healthcare providers make informed decisions about medications and provides valuable information for family planning.

Question 8

Can Dubin-Johnson syndrome be diagnosed with a blood test?

Accepted Answer

Yes, Dubin-Johnson syndrome can be diagnosed primarily through blood tests that measure bilirubin levels. The Direct Bilirubin and Total Bilirubin tests reveal the characteristic pattern of elevated conjugated bilirubin that distinguishes this syndrome from other causes of jaundice. In most cases, these blood tests, combined with your medical history and symptoms, are sufficient for diagnosis. In some situations, doctors may perform additional tests such as genetic testing to confirm the ABCC2 mutation or a liver biopsy, which shows a distinctive dark pigment in liver cells, though these are less commonly needed.

Question 9

How is Dubin-Johnson syndrome treated?

Accepted Answer

Dubin-Johnson syndrome typically requires no specific treatment because it is a benign condition that does not damage the liver or cause serious health problems. Management focuses on monitoring bilirubin levels through periodic blood tests and avoiding factors that may worsen jaundice, such as certain medications, alcohol, and extreme physical stress. If jaundice becomes cosmetically bothersome during flare-ups, some people find that staying well-hydrated and maintaining a healthy lifestyle helps. The most important aspect of management is receiving proper diagnosis to avoid unnecessary treatments and to inform healthcare providers about your condition when prescribing medications.

Question 10

How can I prevent Dubin-Johnson syndrome?

Accepted Answer

Dubin-Johnson syndrome cannot be prevented because it is an inherited genetic condition present from birth. However, if you have a family history of the syndrome or are a known carrier of the ABCC2 gene mutation, genetic counseling can help you understand the risks of passing the condition to your children. Couples who are both carriers have a 25% chance with each pregnancy of having a child with Dubin-Johnson syndrome. Prenatal genetic testing is available for couples at high risk who want to know their baby's status during pregnancy, though many families choose not to pursue this since the condition is benign and does not significantly impact quality of life.

Question 11

What can I do at home for Dubin-Johnson syndrome?

Accepted Answer

At home, focus on maintaining overall liver health through a balanced diet rich in fruits, vegetables, and whole grains while avoiding excessive alcohol consumption. Stay well-hydrated by drinking plenty of water throughout the day, which may help support normal bilirubin processing. Keep a record of when your jaundice symptoms worsen and what factors might trigger these episodes, such as illness, stress, or certain foods or medications, and share this information with your healthcare provider. While these lifestyle measures will not cure the condition, they can help you feel your best and may reduce the frequency or severity of jaundice episodes.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Dubin-Johnson Syndrome Blood Test

What is Dubin-Johnson syndrome?

What causes Dubin-Johnson syndrome?

What is the best test for Dubin-Johnson syndrome?

When should I get tested for Dubin-Johnson syndrome?

References

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