Rotor's Syndrome

May be synonymous with some descriptions of hepatic storage disease

This a very rare syndrome of idiopathic conjugated hyperbilirubinaemia, usually presenting in infancy or childhood. It occurs sporadically in families, and is thought to be inherited in an autosomal recessive fashion.¹ It appears to be commonest in The Philippines, where it was originally described by Arturo Belleza Rotor and co-workers in 1948.² It was once thought to be synonymous with Dubin-Johnson syndrome, but can be distinguished on the grounds of the absence of hepatic pigmentation (a feature of Dubin-Johnson syndrome), and 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.

There are no available population-based figures for its prevalence or incidence. It is exceedingly rare in the UK and worldwide, with the possible exception of parts of SE Asia.

• 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

• Serum and urinary bilirubin is elevated and is largely in conjugated (direct) form
• Bilirubin levels in range 50–130 μmol/l³
• Ultrasound usually shows no abnormality, as do LFTs
• Oral cholecystogram is normal (the hepatobiliary system is not visualised in Dubin-Johnson syndrome)
• 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, and much lower proportion in Rotor).¹
• The plasma disappearance of injected bromosulphopthalein is delayed, with no secondary rise (as is seen in Dubin-Johnson).
• 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.