Rotor syndrome

Rotor syndrome is a benign, inherited liver disorder that leads to a chronic elevation of predominantly conjugated bilirubin in the blood. This condition is characterized by nonhemolytic hyperbilirubinemia, meaning that the increase in bilirubin is not due to the breakdown of red blood cells. Despite the higher bilirubin levels, the liver tissue remains normal upon examination. Because no significant liver damage is observed, the condition is considered benign. The diagnosis is typically based on the pattern of elevated bilirubin levels along with normal findings on liver histology. The information available emphasizes the non-progressive and generally mild nature of the syndrome.

The primary sign of Rotor syndrome is a chronic increase in conjugated bilirubin in the blood. This rise in bilirubin may sometimes cause a mild yellowing of the skin and eyes, known as jaundice. Other than this, people with the condition typically do not experience additional symptoms.

Rotor syndrome is inherited and has been linked to changes in two genes: SLCO1B3 and SLCO1B1. These genes are involved in the function of liver transport proteins. Alterations in these genes affect the normal processing of bilirubin, leading to the features seen in this condition.

Information about treatment is currently limited for this condition.

The outlook for people with Rotor syndrome is generally very good. Since the condition is benign and does not lead to liver damage, most individuals maintain normal liver function and experience a stable quality of life.

Information about research is currently limited for this condition.