What is Rotor syndrome

Rotor syndrome is a rare genetic disorder that affects the liver and bile ducts. It is characterized by impaired bilirubin metabolism, leading to the accumulation of bilirubin in the body. Bilirubin is a yellow pigment produced during the breakdown of red blood cells and is normally excreted in bile.

Individuals with Rotor syndrome may experience symptoms such as jaundice, which causes yellowing of the skin and eyes, dark urine, and pale stools. These symptoms occur due to the elevated levels of bilirubin in the bloodstream.

The exact cause of Rotor syndrome is not fully understood, but it is believed to be an inherited condition. It is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the disorder.

Diagnosis of Rotor syndrome involves blood tests to measure bilirubin levels and imaging studies to assess the liver and bile ducts. Treatment focuses on managing symptoms and may include medications to improve bilirubin excretion.

While Rotor syndrome is a chronic condition, it is not life-threatening and does not typically lead to liver failure or other serious complications. With proper management and regular medical care, individuals with Rotor syndrome can lead normal, healthy lives.