What are the other Names for this Condition? (Also known as/Synonyms)

• Hyperbilirubinemia, Rotor type

What is Rotor Syndrome? (Definition/Background Information)

• Rotor Syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint
• The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. Jaundice is usually evident in infancy or early childhood, and it may come and go
• Rotor Syndrome is caused by having mutations in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner
• The disorder is generally considered benign, and no treatment is needed

(Source: Rotor Syndrome;Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Rotor Syndrome? (Age and Sex Distribution)

• Rotor Syndrome is a rare congenital disorder. The presentation of symptoms may occur in infants or young children
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Rotor Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Rotor Syndrome is inherited
• Currently, no other risk factors have been clearly identified for Rotor Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Rotor Syndrome? (Etiology)

Rotor Syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes.

• These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances 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
• The mutations in the SLCO1B1 and SLCO1B3 genes that cause Rotor Syndrome either prevent the production of the transporting proteins, or prevent them from functioning properly
• When this occurs, bilirubin is not effectively removed from the body and builds up, leading to jaundice

(Source: Rotor Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Rotor Syndrome?

The signs and symptoms of Rotor Syndrome may include:

• Abnormality of skin pigmentation
• Abnormality of the skeletal system

Very frequently present symptoms in 80-99% of the cases:

• Conjugated hyperbilirubinemia
• Jaundice

Occasionally present symptoms in 5-29% of the cases:

• Abnormality of the gastric mucosa
• Fever

(Source: Rotor Syndrome;Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Rotor Syndrome Diagnosed?

• 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
• To confirm a diagnosis 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

(Source: Rotor Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Rotor Syndrome?

The complications of Rotor Syndrome may include:

• Abnormal liver function
• Injury to the liver
• Quality of overall life is affected

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Rotor Syndrome Treated?

Rotor Syndrome is considered a benign disorder and does not require treatment.

• While no adverse drug reactions have been reported in people with Rotor Syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people
• This is because some drugs enter the liver via one of the two transporter proteins that are absent in affected people
• People with Rotor Syndrome should make sure all of their health care providers are aware of their diagnosis and should check with their healthcare providers regarding drugs that should be avoided

(Source: Rotor Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Rotor Syndrome be Prevented?

Currently, Rotor Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Rotor Syndrome? (Outcomes/Resolutions)

• The prognosis of Rotor Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Rotor Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/