Rotor Syndrome

Excerpt

Rotors syndrome (also known as Rotor type hyperbilirubinemia) is an autosomal recessive disease and a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia. The disease is characterized by non-hemolytic jaundice due to chronic elevation of predominantly conjugated bilirubin (over 50%). This phenomenon results from impaired hepatocellular storage of conjugated bilirubin that leaks into plasma, causing hyperbilirubinemia. Its presenting symptom is jaundice, but Rotor Syndrome is a benign and self-limiting disorder that does not require treatment. Generally, patients are asymptomatic, and jaundice is usually an incidental finding. Regarding symptoms, it is similar to Dubin-Johnson syndrome; however, the liver is histologically normal.

As opposed to Dubin-Johnson syndrome, liver hyperpigmentation is absent in Rotor syndrome. In addition, the serum bilirubin in Gilbert syndrome is mostly unconjugated, unlike in Rotor syndrome. Rotor syndrome generally begins shortly after birth or during childhood. Jaundice could be intermittent, and conjunctival icterus could be the only clinical manifestation. The manifestation of jaundice/icterus is because of conjugated hyperbilirubinemia, excess coproporphyrin in urine, and near-absent liver uptake of anionic diagnostics, including cholescintigraphic tracers.