What is Dubin-Johnson syndrome

Dubin-Johnson syndrome is a rare genetic disorder that affects the liver's ability to process and excrete bilirubin, a yellow pigment produced during the breakdown of red blood cells. This condition is characterized by a buildup of bilirubin in the liver cells, leading to a mild form of jaundice.

Symptoms: Individuals with Dubin-Johnson syndrome may experience a yellowish discoloration of the skin and eyes, known as jaundice. However, this discoloration is usually mild and does not cause any significant health problems. Other symptoms may include fatigue, abdominal pain, and dark urine.

Cause: Dubin-Johnson syndrome is caused by mutations in a specific gene involved in the transport of bilirubin within liver cells. These mutations disrupt the normal functioning of a protein called multidrug resistance-associated protein 2 (MRP2), which is responsible for moving bilirubin out of liver cells and into bile.

Diagnosis and Treatment: Diagnosis of Dubin-Johnson syndrome involves blood tests to measure bilirubin levels and genetic testing to identify the specific gene mutations. As the condition is generally benign, treatment focuses on managing symptoms and ensuring overall liver health. This may involve avoiding certain medications that can worsen bilirubin buildup and maintaining a healthy lifestyle.

Prognosis: Dubin-Johnson syndrome is a lifelong condition, but it does not typically lead to severe liver damage or impact life expectancy. With proper management, individuals with this syndrome can lead normal, healthy lives.