Rotor's Syndrome

This a very rare syndrome of idiopathic conjugated hyperbilirubinaemia, usually presenting in infancy or childhood.

It can be distinguished from Dubin-Johnson syndrome because in this syndrome there is an absence of hepatic pigmentation. There are also differences in urinary coproporphyrin excretion, hepatic clearance of bromosulphopthalein and oral cholecystography.

There is an impairment of excretion of organic anions from hepatocytes into the canalicular lumen. This causes defective excretion of conjugated bilirubin, its reabsorption into the blood and excretion in the urine.

It occurs sporadically in families and is thought to be inherited in an autosomal recessive fashion.¹
There are no available population-based figures for its prevalence or incidence:

• It appears to be commonest in The Philippines, where it was originally described by Arturo Belleza Rotor and co-workers in 1948.²
• It is exceedingly rare in the UK and worldwide.

• Chronic jaundice without evidence of haemolysis.
• Attacks of intermittent epigastric discomfort and abdominal pain may occur but are rare.
• There may be episodic fever.

• Dubin-Johnson syndrome
• Viral hepatitis
• Drug-induced cholestasis (including anaesthetic reactions)
• Autoimmune hepatitis
• Wilson's disease
• Haemochromatosis
• Alpha-1 antitrypsin deficiency
• Benign recurrent cholestasis
• Any cause of obstruction of small or large bile ducts in children
• Sarcoidosis
• Amyloidosis

• LFTs are normal.
• Serum and urinary bilirubin is elevated and is largely in conjugated (direct) form.
• Bilirubin levels are in range 50–130 μmol/l.³
• Ultrasound usually shows no abnormality.
• Oral cholecystogram is normal.
• Total coproporphyrin excretion is greatly elevated in both Rotor and Dubin-Johnson syndromes:
  • The ratio of coproporphyrin I to III in urine allows differentiation of these 2 conditions.
  • Around 90% as coproporphyrin I in Dubin-Johnson but much lower proportion in Rotor.¹
• The plasma disappearance of injected bromosulphopthalein is delayed, with no secondary rise (which is seen in Dubin-Johnson).⁴
• Hepatic biopsy will show pigment deposition in Dubin-Johnson syndrome, but not in Rotor syndrome.

The condition is largely benign and does not require any active intervention in most cases.
Other hepatic disease can damage the liver preferentially in patients with the condition, so it is best to avoid alcohol, hepatotoxic drugs, exposure to viral hepatitis etc.

Can occasionally progress to liver failure if there is another cause of hepatic compromise.

Usually good with benign course unless there is co-existent liver disease.