Rotor syndrome is a rare and typically harmless genetic condition affecting the liver. It causes jaundice, mild yellowing of skin and eyes, and generally doesn’t need treatment.
Rotor syndrome is a very rare, autosomal recessive genetic disorder – which means you need to get one gene from each parent to have it, and fewer than 1000 people in the United States have it.
The syndrome causes hyperbilirubinemia, or extra bilirubin – a yellow substance found in bile from the liver. It is a benign or harmless condition resulting from changes in the SLCO1B1 and SLCO1B3 genes.
These genes help manage the flow of bilirubin in the blood. Since the condition is harmless, there is no treatment needed.
Read on to learn more about Rotor syndrome.
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- chronic, mild jaundice (skin and eyes appear yellow), often appearing in childhood or adolescence but sometimes present from birth
- non-itching jaundice
- dark-colored urine
- fatigue
- rarely, mild abdominal discomfort
- rarely, low grade fever
Most people with Rotor syndrome don’t have any other symptoms.
Rotor syndrome is caused by inheriting mutations in two genes, SLCO1B1 and SLCO1B3, on chromosome 12.
These changes affect two proteins, OATP1B1 and OATP1B3, that help transport bilirubin into liver cells so it can be processed and excreted.
Changes in these proteins cause the bilirubin to accumulate in the bloodstream, and the extra bilirubin causes jaundice.
Having parents who have mutations in either the SLCO1B1 or SLCO1B3 genes
Because Rotor syndrome is an autosomal recessive condition, meaning you need got get one mutated gene from each parent to have the condition, having parents who are related may increase the risk of passing it on.
It has been described in diverse populations worldwide.
To diagnose Rotor syndrome, your doctor may use a combination of exams and tests, including:
Clinical exams: You may have a physical exam and a review of your medical history to determine if you have jaundice, and if so, for how long. They may also look for symptoms that may rule out Rotor syndrome, such as itching, fever, or pain, which are symptoms of other liver conditions and not Rotor syndrome.
Testing: Your doctor may order tests that measure liver function and the amount of bilirubin in your blood, such as:
- blood testing for bilirubin levels
- liver function tests
- urine tests to measure coproporphyrin (a substance that helps make the arts of blood cells that carry oxygen)
- ultrasound of the gallbladder (to rule out gallbladder conditions)
Genetic screening: A genetic test will confirm or rule out mutations in the SLCO1B1 and SLCO1B3 genes.
There is no treatment for Rotor syndrome because the condition causes no health concerns. However, individuals may choose to have genetic testing to see if they are likely to pass the condition on to future children.
If you have Rotor syndrome, your doctor may monitor your liver function and advise you to eat a well-balanced diet, avoid excessive alcohol consumption, and use caution when taking prescription medication like statins or methotrexate, because your liver may not metabolize some medications the same way people without Rotor syndrome do.
Rotor syndrome is a lifelong condition; however, it does not negatively affect your liver, cause any adverse health effects, or affect life expectancy.
Most people with Rotor syndrome remain healthy with only mild, fluctuating jaundice. Serious complications are very rare except in individuals who have another underlying liver condition or who may need to take certain medications that may not metabolize as expected.
No. Rotor syndrome does not cause liver damage or liver failure.
While most people with Rotor syndrome have some form of mild jaundice; however, it may be so mild that it may only be seen in the whites of the eyes (sclera jaundice).
You may need to check with your doctor or healthcare professional before beginning any medications – be sure to let them know that you have Rotor syndrome, and you may want to have your pharmacist add it to your pharmacy records as well – just in case. You may also want to avoid potential liver toxins, like consuming excessive alcohol and taking unnecessary medications.
Rotor syndrome is a rare but harmless genetic liver disorder characterized by mild but lifelong jaundice. It’s an autosomal recessive condition, which means you need two copies—one from each parent — of a mutated SLCO1B1 or SLCO1B3 gene.
You do not need treatment if you have Rotor syndrome since it doesn’t cause health problems or complications. But you’ll need to let your doctor or healthcare professional know you have Rotor syndrome so they can manage any medications you may need to be sure your body will metabolize them as expected and that they are safe and effective for you.