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Synonyms: Rotor, Manahan and Florentin syndrome; Rotor's type of bilirubinaemia
This a very rare syndrome of idiopathic conjugated hyperbilirubinaemia.
Pathogenesis
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 bromosulphophthalein 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.
Epidemiology
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 most common in the Philippines, where it was originally described by Arturo Belleza Rotor and co-workers in 1948.
- It is exceedingly rare in the UK and worldwide.
Presentation
It usually presents in infancy or childhood:
- Chronic jaundice without evidence of haemolysis.
- Attacks of intermittent epigastric discomfort and abdominal pain may occur but are rare.
- There may be episodic fever.
Differential diagnosis
- 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 the small or large bile ducts in children.
- Sarcoidosis.
- Amyloidosis.
Investigations
- LFTs are normal.
- Serum and urinary bilirubin are elevated and largely in conjugated (direct) form.
- Bilirubin levels are in the range of 50-130 μmol/L.[2]
- Ultrasound usually shows no abnormality.
- Oral cholecystogram is normal.[1]
- Total coproporphyrin excretion is greatly elevated in both Rotor's syndrome and Dubin-Johnson syndrome:
- The ratio of coproporphyrin I to III in urine allows differentiation of these 2 conditions.
- Around 90% as coproporphyrin I in Dubin-Johnson syndrome but much lower proportion in Rotor's syndrome.[3]
- The plasma disappearance of injected bromosulphophthalein is delayed, with no secondary rise (which is seen in Dubin-Johnson syndrome).
- Hepatic biopsy will show pigment deposition in Dubin-Johnson syndrome, but not in Rotor's syndrome.
Management
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.
Complications
Can occasionally progress to liver failure if there is another cause of hepatic compromise.
Prognosis
Usually good with a benign course, unless there is coexistent liver disease.
Further reading and references
Limdi JK, Hyde GM; Evaluation of abnormal liver function tests. Postgrad Med J. 2003 Jun79(932):307-12.
Weisiger RA; Hyperbilirubinaemia, Conjugated, eMedicine, Feb 2009
Hyperbilirubinemia, Rotor Type, Online Mendelian Inheritance in Man (OMIM)
Strassburg CP; Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin Gastroenterol. 2010 Oct24(5):555-71.
Habashi SL et al; Dubin-Johnson Syndrome: Differential Diagnoses & Workup, eMedicine, May 2009