Summary about Disease
Dubin-Johnson syndrome (DJS) is a rare, inherited liver disorder characterized by chronic, mild jaundice (yellowing of the skin and eyes). It is caused by a defect in the liver's ability to excrete bilirubin, a yellow pigment produced during the normal breakdown of red blood cells. This leads to a buildup of bilirubin in the liver cells, giving them a dark color, and its subsequent spillover into the bloodstream.
Symptoms
The primary symptom of DJS is mild, intermittent jaundice. This jaundice may be more pronounced during periods of illness, stress, pregnancy, or after taking certain medications (e.g., oral contraceptives). Other symptoms, if present, are usually mild and nonspecific, and may include:
Fatigue
Abdominal pain (rare)
Dark urine
Causes
DJS is caused by mutations in the ABCC2 gene (also known as *MRP2* gene). This gene provides instructions for making a protein called multidrug resistance-associated protein 2 (MRP2), which is responsible for transporting bilirubin glucuronide (a form of bilirubin that has been processed by the liver) from liver cells into the bile. Mutations in the *ABCC2* gene reduce or eliminate the function of MRP2, leading to a buildup of bilirubin glucuronide within liver cells and its subsequent leakage into the blood. DJS is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
There is no specific medication to cure DJS. Treatment focuses on managing symptoms, if any, and avoiding triggers that may exacerbate jaundice. Certain medications that might worsen jaundice should be avoided or used with caution. Cholestyramine may be used in some cases to help bind bilirubin in the gut and reduce its reabsorption, but it's not a standard treatment.
Is Communicable
No, Dubin-Johnson syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be transmitted from person to person.
Precautions
Individuals with DJS should take the following precautions:
Avoid known triggers: Be aware of factors that can worsen jaundice, such as certain medications, alcohol, and stress.
Maintain a healthy lifestyle: Eat a balanced diet, exercise regularly, and get enough sleep.
Genetic counseling: If planning a family, consider genetic counseling to understand the risk of passing the gene to their children.
Inform healthcare providers: Ensure all healthcare providers are aware of the DJS diagnosis before starting new medications or treatments.
How long does an outbreak last?
DJS does not present with "outbreaks" in the way infectious diseases do. The jaundice associated with DJS is typically intermittent. Episodes of jaundice can last for days to weeks, and may resolve spontaneously. The severity and frequency of jaundice vary among individuals.
How is it diagnosed?
Diagnosis of DJS typically involves:
Liver function tests: Elevated levels of conjugated bilirubin in the blood.
Urine bilirubin test: Presence of bilirubin in the urine.
Liver biopsy: Shows characteristic dark-pigmented granules within liver cells.
Genetic testing: Confirms the diagnosis by identifying mutations in the ABCC2 gene.
Imaging studies (e.g., ultrasound): To rule out other liver disorders.
Timeline of Symptoms
Onset: Usually, jaundice is first noticed in childhood or adolescence.
Fluctuations: Jaundice is often intermittent, with periods of normal or near-normal bilirubin levels alternating with periods of increased jaundice.
Progression: The condition is generally benign and does not lead to liver damage or failure. Symptoms typically remain mild and stable throughout life.
Important Considerations
Benign nature: DJS is generally considered a benign condition and does not usually require extensive medical intervention.
Differentiation from other liver disorders: It's important to differentiate DJS from other causes of jaundice, especially those that may require treatment.
Impact on medication metabolism: The impaired function of the MRP2 transporter protein may affect the metabolism and excretion of some medications.
Psychological impact: Although physically mild, the visible jaundice may have a psychological impact on some individuals.