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Rotor’s Syndrome

March 21, 2023Chemical pathologyLab Tests

Table of Contents

  • Rotor’s Syndrome
      • Sample for Rotor’s Syndrome
      • Precautions for Rotor’s Syndrome
      • Pathophysiology of Rotor’s Syndrome
      • Signs and symptoms of Rotor’s Syndrome
      • Diagnosis of Rotor’s Syndrome
      • Treatment of Rotor’s Syndrome
      • Questions and answers:

Rotor’s Syndrome

Sample for Rotor’s Syndrome

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

Precautions for Rotor’s Syndrome

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

Pathophysiology of Rotor’s Syndrome

  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.
Rotors syndrome mechanism

Rotors syndrome mechanism

  1. There is an impairment in the excretion of bilirubin from hepatocytes into the canalicular bile lumen.
Rotor's syndrome mechanism

Rotor’s syndrome mechanism

  1. This causes defective:
    1. Excretion of conjugated bilirubin.
    2. It’s reabsorption into the blood.
    3. Excretion in the urine.
  2. The difference between 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 of Rotor’s Syndrome

  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.
Signs and symptoms Rotor’s syndrome Dubin-Johnson syndrome
Incidence
  • Rare
  • Uncommon
Inheritance mode
  • Autosomal recessive
  • Autosomal recessive
Age at onset of jaundice
  1. It is usually adolescence
  2. Or early adulthood
  1. It is childhood
  2. May see in adolescence
Signs and symptoms
  • There is asymptomatic jaundice.
  • There is asymptomatic jaundice in young adults
Bilirubin level
  1. It is 2 to 7 mg/dL
  2. Rarely ≤20 mg/dL
  3. Direct bilirubin = ∼60%
  1. It is 2 to 7 mg/dL
  2. It may be ≤25 mg/dL
Mechanism of rotor’s syndrome
  1. It is impaired biliary excretion of conjugated bilirubin
  2. It is impaired biliary excretion of organic anions
  1. It is impaired biliary excretion of conjugated bilirubin
  2. It is impaired biliary excretion of organic anions
BSP (Impaired excretion of dye)
  1. It is impaired
  2. There is a slow clearance
  3. There is no later increase
  1. It is impaired
  2. There is an initial rapid fall
  3. Later on, there is a rise in 45 to 90 minutes
Oral cholecyctogram
  • It is normal
  • The gallbladder is usually not visualized
Liver biopsy
  • There are no pigments
  • There are characteristic pigmentation
Treatment
  • There is no need for treatment
  • Not needed

Diagnosis of Rotor’s Syndrome

  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 of Rotor’s Syndrome

  • This is a benign disease, and no active intervention is needed unless another cause of liver disease exists.

Questions and answers:

Question 1: What is the main difference between Rotor's syndrome and Dubin Johnson syndrome?
Show answer
In case of Dubin Johnson syndrome on cholecyctography gallbladder is not visualized while in Rotor's syndrome, it is seen.
Question 2: What is the treatment of Rotor's syndrome?
Show answer
Rotor's syndrome is a benign disease, and no active treatment is needed.

Possible References Used
Go Back to Chemical pathology

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