Rotor syndrome

Rotor syndrome is an autosomal-recessive condition characterized by a predominantly conjugated hyperbilirubinemia.

Patients are generally asymptomatic and jaundice may be an incidental finding.

More than 50% of the serum bilirubin is conjugated and bilirubinuria is typically present.

Symptomatically similar to Dubin-Johnson syndrome but the liver is histologically normal.

A benign condition with a normal life expectancy, and no specific therapy is required.

Rotor syndrome (RS) is a familial disorder of bilirubin metabolism characterized by a benign, nonhemolytic jaundice, due to chronic elevation of predominantly serum conjugated bilirubin. The unconjugated bilirubin fraction is also elevated.[1]Rotor AB, Manahan L, Florentin A. Familial non-hemolytic jaundice with direct Van Den Bergh reaction. Acta Med Phil. 1948;5:37-49.[2]Namihisa T, Yamaguchi K. The constitutional hyperbilirubinemia in Japan: studies in 139 cases reported during the period 1963 to 1969. Gastroenterol Jpn. 1973;8:311-21.[3]Fretzayas AM, Stavrinadis CS, Koukoutsakis PM, et al. Diagnostic approach of Rotor syndrome with cholescintigraphy. Clin Nucl Med. 1997;22:635-6. http://www.ncbi.nlm.nih.gov/pubmed/9298301?tool=bestpractice.com