From the Research
Rotor syndrome is a rare, benign genetic disorder characterized by chronic, non-hemolytic, conjugated hyperbilirubinemia, caused by mutations in the SLCO1B1 and SLCO1B3 genes, which encode organic anion transporting polypeptides OATP1B1 and OATP1B3, leading to impaired hepatic uptake of conjugated bilirubin from sinusoidal blood. The pathophysiology of Rotor syndrome involves the defective function of these transporters, resulting in reduced storage capacity of bilirubin in the liver cells, and elevated levels of both conjugated and unconjugated bilirubin in the blood, causing jaundice 1. Key characteristics of Rotor syndrome include:
- Chronic, non-hemolytic, conjugated hyperbilirubinemia
- Impaired hepatic uptake of conjugated bilirubin from sinusoidal blood
- Reduced storage capacity of bilirubin in the liver cells
- Elevated levels of both conjugated and unconjugated bilirubin in the blood
- Normal liver function tests aside from elevated bilirubin levels
- No liver damage or other health complications
- Inherited in an autosomal recessive pattern, requiring mutations in both alleles of the affected genes Unlike Dubin-Johnson syndrome, Rotor syndrome does not involve impaired excretion of conjugated bilirubin into bile, and the liver appears normal without pigmentation 2. The diagnosis of Rotor syndrome is important to differentiate it from other causes of jaundice, and to avoid unnecessary invasive procedures 3. No specific treatment is required for Rotor syndrome, as the condition is benign, but patients should be monitored and differentiated from those with more serious causes of jaundice 4.