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Rotor syndrome

Rotor syndrome

GI 1

GI 1

Development of the gastrointestinal system
Gastrointestinal system anatomy and physiology
Chewing and swallowing
Appendicitis
Small bowel ischemia and infarction
Celiac disease
Lactose intolerance
Tropical sprue
Whipple's disease
Meckel diverticulum
Diverticulosis and diverticulitis
Intussusception
Hirschsprung disease
Omphalocele
Gastroschisis
Intestinal atresia
Crohn disease
Ulcerative colitis
Irritable bowel syndrome
Juvenile polyposis syndrome
Colorectal polyps
Familial adenomatous polyposis
Peutz-Jeghers syndrome
Colorectal cancer
Liver anatomy and physiology
Dubin-Johnson syndrome
Rotor syndrome
Gilbert's syndrome
Crigler-Najjar syndrome
Cirrhosis
Primary biliary cholangitis
Alcohol-associated liver disease
Non-alcoholic fatty liver disease
Cholestatic liver disease
Benign liver tumors
Hepatocellular carcinoma
Cholangiocarcinoma
Gallstones
Gallstone ileus
Biliary colic
Acute cholecystitis
Chronic cholecystitis
Gallbladder carcinoma
Primary sclerosing cholangitis
Pancreatic secretion
Acute pancreatitis
Chronic pancreatitis
Pancreatic cancer

Key Takeaways

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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Rotor syndrome

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Questions

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A 51-year-old man comes to the internal medicine PA 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:  



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?