A 42-year-old man comes to the office to discuss abnormal blood work results that were obtained at a local health fair. The patient currently feels well and reports no symptoms. Temperature is 37.6 C (99.7 F), blood pressure is 125/72 mm Hg, pulse is 82/min, and respirations are 13/min. Examination shows no scleral icterus. Heart and lung sounds are normal; skin and abdominal examination are normal. Laboratory results are as follows: Right upper quadrant ultrasound is normal. The patient undergoes magnetic resonance cholangiopancreatography, which reveals luminal irregularities with mild focal dilatations within both intrahepatic and extrahepatic biliary ducts. Which of the following additional testing should be obtained from this patient?

Question

A 42-year-old man comes to the office to discuss abnormal blood work results that were obtained at a local health fair.  The patient currently feels well and reports no symptoms.  Temperature is 37.6 C (99.7 F), blood pressure is 125/72 mm Hg, pulse is 82/min, and respirations are 13/min.  Examination shows no scleral icterus.  Heart and lung sounds are normal; skin and abdominal examination are normal.  Laboratory results are as follows:  Right upper quadrant ultrasound is normal.  The patient undergoes magnetic resonance cholangiopancreatography, which reveals luminal irregularities with mild focal dilatations within both intrahepatic and extrahepatic biliary ducts.  Which of the following additional testing should be obtained from this patient?

Quizplus · Accepted Answer

11ec25c8_d81e_3d9d_bc81_5132fcd73a19_MD0003_00 This patient has laboratory and magnetic resonance cholangiopancreatography (MRCP) findings consistent with primary sclerosing cholangitis (PSC), a chronic disorder that causes progressive biliary fibrosis and stricturing. Many patients are asymptomatic at the time of diagnosis and have only elevations in alkaline phosphatase and gamma-glutamyl transpeptidase (ie, cholestatic pattern). As the disease progresses, obstruction of the bile ducts leads to jaundice, pruritus, and direct hyperbilirubinemia. Ultrasound may remain normal but can show bile duct wall thickening and dilations. However, MRCP findings of multifocal intrahepatic and extrahepatic biliary strictures and segmental dilations are considered diagnostic. Up to 90% of patients with PSC also have inflammatory bowel disease (IBD), with ulcerative colitis being more common than Crohn disease. To rule out underlying IBD, a colonoscopy should be performed in all patients with a new diagnosis of PSC. Patients with both PSC and IBD should have annual colonoscopies because they are at a markedly elevated risk for colon cancer (~5 times higher than those with IBD alone). (Choices B and E) Hereditary hemochromatosis also causes chronic liver disease and cirrhosis; however, patients demonstrate a hepatocellular pattern of liver injury, skin hyperpigmentation and diabetes mellitus is typical, and biliary stricturing is unexpected. Although echocardiograms (to assess for heart failure) and serum ferritin levels are indicated in these patients, they are not required in PSC. (Choice C) Wilson disease, which occurs from impaired intracellular copper transportation, can also cause liver disease; however, patients have a hepatocellular pattern of liver injury, most demonstrate neuropsychiatric symptoms, and biliary stricturing is unexpected. Slit-lamp demonstrates Kayser-Fleischer rings. (Choice D) Alpha-1 antitrypsin deficiency presents with early onset emphysema (diagnosed with pulmonary function studies) and hepatitis. Although cholestasis can occur, segmental dilations and strictures are more consistent with PSC. Educational objective: Primary sclerosing cholangitis is often diagnosed in asymptomatic individuals with high alkaline phosphatase and gamma-glutamyl transpeptidase levels (cholestatic pattern). Magnetic resonance cholangiopancreatography findings of multifocal intrahepatic and extrahepatic biliary strictures with segmental dilations are diagnostic. A colonoscopy is recommended at the time of diagnosis because many patients also have inflammatory bowel disease. References: Radiologic manifestations of sclerosing cholangitis with emphasis on MR cholangiopancreatography. (http://www.ncbi.nlm.nih.gov/pubmed/10903686) ACG clinical guideline: primary sclerosing cholangitis. (http://www.ncbi.nlm.nih.gov/pubmed/25869391)

A 42-Year-Old Man Comes to the Office to Discuss Abnormal