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Rotor’s Syndrome

November 6, 2023Chemical pathologyLab Tests

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.

How will you describe different types of inherited jaundice?

Clinical parameters Unconjugated Hyperbilirubinemia Conjugated Hyperbilirubinemia
Gilbert’s disease Type 1 Criggler-Najjar Type II Criggler-Najjar syndrome Rotor’s syndrome Dubon-Jhonson syndrome
Inherited mode Autosomal dominant Autosomal recessive Autosomal dominant Autosomal recessive Autosomal recessive
Incidence <7% of the population Very rare Uncommon Rare Uncommon
Age at onset In adolescence In infancy
  1. In childhood
  2. Adolescence
 Early adulthood
  1. Childhood
  2. Adolescence
Pathogenesis Glucoronyl transferase  enzyme deficiency (GTE) GTE decreased Marked decrease Impaired conj. bilirubin excretion Impaired cong. bilirubin excretion
Bilirubin level
  1. Mostly indirect
  2. Decreased in fasting
 Mainly indirect Mainly indirect
  1. Direct around 60%
  2. 2 to 7  and ≤20
  1. Direct around 60%
  2. 2 to 7 and ≤25
Clinical signs/symptoms
  1. Appear in early adulthood
  2. Mostly found in fasting
  3. Hemolysis is seen in ≤40%
  1. Jaundice
  2. May see kernicterus in infants and young adults
  1. Asymptomatic jaundice
  2. Kernicterus is rarely seen
 Asymptomatic jaundice in young adults Asymptomatic jaundice
Effect of phenobarbitone Decreased to normal There is no effect Marked decrease —– —–
BSP (Dye excretion) test May be mildly impaired in <40% of cases It is absent _____ Positive, Initial rapid fall and then rise in 40 to 90 minutes Positive, Slow clearance and no rise
Oral cholecyctography Normal Normal Normal Normal GB usually not visualized
Liver biopsy Normal —- —- No pigments Characteristic pigments
Treatment Not needed There is no treatment Not needed

Questions and answers:

Question 1: What is the main difference between Rotor's syndrome and Dubin Johnson syndrome?
Question 2: What is the treatment of Rotor's syndrome?
Possible References Used
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