Rotor syndrome

Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice.

There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin.^[1][2]

To confirm a disgnosis of Rotor syndrome, a person may have the following performed:

• testing for serum bilirubin concentration
• testing for bilirubin in the urine
• testing for hemolysis and liver enzyme activity (to rule out other conditions)
• cholescintigraphy (also called an HIDA scan)
• testing for total urinary porphyrins^[2]