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Rotor’s Syndrome

October 15, 2024Chemical pathologyLab Tests

Rotor’s Syndrome

What sample is needed for Rotor’s Syndrome?
  1. The serum of the patient is needed.
  2. A urine sample can be used.
What are the precautions for Rotor’s Syndrome workup?
  1. Avoid the hemolyzed sample.
  2. Avoid lipemic serum.
  3. Avoid serum from the light.
  4. Avoid urine from exposure to light.

What is the 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 increased 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

What is the mechanism of Rotor’s syndrome?
  1. There is a defect in:
    1. Excretion of conjugated bilirubin. It can not enter the biliary system.
    2. It’s reabsorption into the blood.
    3. Excretion in the urine.
What is the difference between Rotor’s syndrome and Dubon-Johnson syndrome?
  1. The difference between Rotor’s syndrome from the Dubin-Johnson syndrome is:
    1. There is no hepatic pigmentation in Rotor’s syndrome.
    2. Oral Cholecystography also differentiates, which is normal in Rotor’s syndrome.
    3. Ultrasound shows no abnormality in Rotor’s syndrome.
    4. Liver biopsy shows no pigmentation in Rotor’s syndrome.

What are the 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. This may be seen 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

How will you diagnose 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.

How will you treat 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 syndrome 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 GTE 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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