Rotor’s Syndrome

Sample

1. The serum of the patient is needed.
2. The urine sample can be used.

Precautions

1. Avoid the hemolyzed sample.
2. Avoid lipemic serum.
3. Avoid serum from the light.
4. Avoid urine from exposure to light.

Pathophysiology

1. This is a rare, relatively benign (mild) autosomal recessive disease of the liver.
2. This is similar to Dubin-Johnson syndrome and both lead to increase conjugated (direct) bilirubin.

3. There is an impairment of excretion of bilirubin from hepatocytes into the bile canalicular lumen.

4. This causes defective:
   1. Excretion of conjugated bilirubin.
   2. It’s reabsorption into the blood.
   3. Excretion in the urine.
5. The difference of Rotor’s syndrome from the Dubin-Johnson syndrome is:
   1. There is no hepatic pigmentation.
   2. Oral Cholecystography also differentiates which is normal in this condition.
   3. Ultrasound shows no abnormality.
   4. Liver biopsy shows no pigmentation.

Signs and symptoms

1. This disease is usually seen in infancy or childhood.
2. There is chronic jaundice without any evidence of hemolysis.
3. Sometimes these patients may have intermittent epigastric discomfort and abdominal pain.
4. There may be an attack of fever.

Diagnosis

1. There is jaundice with increased conjugated bilirubinemia.
2. Liver biopsy is normal in histology.
3. The gallbladder can be visualized by cholecystography. This differentiates it from Dubin-Johnson syndrome.

Treatment

• This is a benign disease and no active intervention needed unless there is some other cause of liver disease.

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