Rotor syndrome



Rotor syndrome



Rotor syndrome


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USMLE® Step 1 questions

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Rotor syndrome

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USMLE® Step 1 style questions USMLE

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A 51-year-old man comes to his outpatient provider for evaluation of epigastric abdominal pain and unintentional weight loss. The symptoms began 6 months ago and the patient has lost 4 kg (8.8 lb) during this time period. Review of systems is notable for fatigue and pruritus over this same time period. Past medical history is notable for alcohol use disorder. The patient has a 35-pack-year smoking history. In the office, his temperature is 37.6°C (99.7°F), blood pressure is 125/77 mmHg, and pulse is 72/min. Physical examination shows an enlarged, palpable, but non-tender, gallbladder. Examination of the patient’s eyes reveals the following finding:  

Reproduced from: Wikimedia Commons   
Cardiac and pulmonary exams are noncontributory. Serum carbohydrate antigen 19-9 levels are elevated. Which of the following laboratory findings would most likely be present in this patient?  

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Rotor syndrome p. 402, 402

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Rotor syndrome is a rare, relatively benign autosomal recessive bilirubin disorder. It is caused by mutations in SLCO1B1 and SLCO1B3 genes, which leads to conjugated and unconjugated hyperbilirubinemia, with no hemolysis. Signs and symptoms of Rotor syndrome include recurrent jaundice, which initially presents soon after birth or during childhood. Typically, there is no treatment required.


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