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Rotor syndrome


Other Names for this Disease

  • Hyperbilirubinemia, Rotor type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is rotor syndrome?

What are the signs and symptoms of Rotor syndrome?

What causes Rotor syndrome?

How is Rotor syndrome diagnosed?

How might Rotor syndrome be treated?



What is rotor syndrome?

Rotor syndrome is a hereditary disorder of bilirubin metabolism. In Rotor syndrome there is an increase in the amount of bilirubin in the blood (hyperbilirubinemia). Rotor syndrome is characterized by jaundice, which is a yellowing of the skin and whites of the eyes.[1][2] Rotor syndrome is caused by mutations in the SLCO1B1 and SLCO1B3 genes. Mutations in both genes are required for the condition to occur.[3][4] This condition is inherited in an autosomal recessive fashion.[1][2]
Last updated: 12/12/2013

What are the signs and symptoms of Rotor syndrome?

Jaundice is usually the only symptom of Rotor syndrome. Some people with Rotor syndrome develop nonspecific symptoms. Unlike other causes of hyperbilirubinemia, itchiness (pruritus) is not a symptom of Rotor syndrome. Rotor syndrome is not associated with an increased risk for liver scarring (liver fibrosis or cirrhosis).[1]
Last updated: 12/17/2010

What causes Rotor syndrome?

The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. These genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells where they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body.[3]

The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.[3]

Last updated: 12/12/2013

How is Rotor syndrome diagnosed?

Rotor syndrome is diagnosed based on a collection of laboratory and clinical findings. In Rotor syndrome serum liver studies, blood count, lipids, and serum albumin are normal. The excess bilirubin in the blood is a combination of unconjugated and conjugated (conjugated bilirubin has a sugar added to it, while unconjugated bilirubin does not). Bilirubin levels tend to be between 50-100nM/l but levels over 400mN/l are possible. Oral contraceptives and pregnancy can increase hyperbilirubinemia. Liver biopsy is not necessary, but does not show abnormalities. In Rotor syndrome the total coproporphyrin excretion in urine is elevated 2 to 5 fold with 65% of cases constituting coproporphyrin I. The coproporphyrin urine excretion analysis is useful in differentiating Rotor syndrome from a similar disorder called Dubin-Johnson syndrome.[1]
Last updated: 12/17/2010

How might Rotor syndrome be treated?

Rotor syndrome is considered a benign disease and requires no treatment.[1][2]
Last updated: 12/17/2010

References
  1. Strassburg CP. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin Gastroenterol. 2010 Oct;
  2. Crawford JM, Liu C. Liver and Biliary Tract. In: Kumar eds.,. Robbins and Cotran Pathologic Basis of Disease, Professional Edition , 8th ed. Philadelphia, PA: Saunders; 2009;
  3. Rotor syndrome. Genetics Home Reference (GHR). March 2013; http://ghr.nlm.nih.gov/condition/rotor-syndrome. Accessed 12/12/2013.
  4. Hyperbilirubinemia, Rotor Type. Online Mendelian Inheritance in Man (OMIM). July 2013; http://omim.org/entry/237450. Accessed 12/12/2013.


Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.