Diagnostic Criteria
Suggestive Findings Rotor syndrome should be suspected in individuals with the following clinical, laboratory, and cholescintigraphy findings and family history. Clinical findings • Mild jaundice (may be intermittent) • Conjunctival icterus (in some affected individuals) • Otherwise normal physical examination Laboratory findings (See .) • Conjugated hyperbilirubinemia with serum total bilirubin concentration usually between 2 and 5 mg/dL but possibly higher. Conjugated bilirubin usually exceeds 50% of total bilirubin. • Presence of bilirubin in the urine • Absence of hemolysis* • Normal serum alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), and gamma-glutamyl transferase (GGT) activity* • Total urinary porphyrins: elevated coproporphyrin *Tests for hemolysis and measurements of ALT, AST, ALP, and GGT activity are needed to evaluate for hemolytic anemia and hepatobiliary diseases that are considered in the of Rotor syndrome. Cholescintigraphy findings. Radiotracers (99mTc-HIDA/99mTc-N [2,6-dimethylphenyl-carbamoylmethyl] iminodiacetic acid, 99mTc-DISIDA/disofenin, 99mTc-BrIDA/mebrofenin) are taken up slowly by the liver and the liver is scarcely visualized; however, the cardiac blood pool is persistently visualized, with prominent excretion by the kidneys. Family history is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis. Table 1. Laboratory Findings in Rotor Syndrome
