1. A 42-year-old man born & raised in Canada is seen for a 4-month history of post-prandial stomach discomfort. At present he has heartburn symptoms up to 5 times per week. He denies any oropharyngeal or esophageal dysphagia. There have been no changes in the appearance and consistency of his stool during this time. There is no family history of GI malignancy. On physical exam, he appears well and in no distress. His vital signs are normal. Abdominal examination is normal. Lab work is also normal on review.
What would be the next appropriate step in the management of this patient?
A. Refer for endoscopic evaluation
B. Start Proton Pump Inhibitor therapy
C. Start patient on H2 blockade therapy
D. Test and treat for H.pylori infection
2. A 22-year old woman is seen your clinic for assessment and colorectal cancer screening. She is healthy and is currently on no medications. Her familial medical history is significant for HNPCC (Hereditary Non-Polyposis Colorectal Cancer) also known as the Lynch Syndrome. She had an uncle who was diagnosed with renal transitional cell carcinoma at the age of 35; Her mother was diagnosed with colorectal cancer at the age of 28; her maternal grandmother was diagnosed with endometrial cancer at age of 44 and her aunt was found to have precancerous lesions in the ascending colon at the age of 42.
What would be the next steps in her management?
A. Arrange for colonoscopy in 5 years
B. Arrange for colonoscopy at the age of 40
C. Arrange for colonoscopy now.
D. Arrange for colonoscopy in 1 year then in 3 years.
3. A 54-year-old man is evaluated in follow-up for elevated liver enzymes. He is asymptomatic and no signs of jaundice. His history is significant for type 2 diabetes mellitus, dyslipidemia and hypertension. He has no recent travel history and does not consume any alcohol. His current medications include metformin, sitagliptin, atorvastatin and ramipril. On physical examination, he is afebrile with blood pressure of 134/72 mm Hg, heart rate is 64/min. His BMI is 35. Abdominal examination revealed no scleral icterus or other extra-hepatic manifestations of liver disease. There is mild hepatomegaly on palpation of the abdomen. The lab investigations revealed: ALT 90 u/L; AST 122 u/L; ALP, Bilirubin, Ferritin levels are normal. Hepatitis B and C serology are negative for chronic/active infection but show immunity in the former.
What would be the most reasonable next step in the diagnosis of this patient?
A. Order an ultrasound of the liver
B. Order a serum ceruloplasmin levels
C. Order antimichondrial antibody (AMA) assay
D. Arrange for Fibroscan
ANSWERS
1. B- It would be appropriate to start this patient on PPI therapy given the heartburn symptoms. PPI therapy is superior in the treatment of heartburn and dyspepsia symptoms than H2 blockade therapy. Furthermore, this patient has no concerning features that would warrant endoscopic evaluation such as anemia, age onset after 50, weight loss, dysphagia or family history of malignancy. Other considerations for endoscopic evaluation would be persistence of reflux and dyspepsia symptoms despite PPI therapy. A test and treat strategy is appropriate for patients who are from endemic areas with H. pylori but also with dyspeptic symptoms without heartburn or other alarming features (underlined above).
2. C- This patient has a family history of Lynch syndrome or HNPCC which is the most common form of hereditary colorectal cancer caused by defects in the mismatch repair genes (predominantly MSH2 & MLH1). In patients with a family history of Lynch syndrome, colonoscopy screening should be done between ages of 20-25 OR 10 years prior to the age of the earliest diagnosis of colorectal cancer in the family, whichever is first. Therefore, she needs a colonoscopy now. There are also extra-colonic malignancies associated with Lynch syndrome (including but not limited to uterine, ovarian, transitional cell and gastric cancers). Click here to learn more about Hereditary Colon Cancers on Medscape.
3. A- This patient likely has a diagnosis of non-alcoholic fatty liver disease (NAFLD) and an ultrasound would be the most reasonable next step in evaluating a cause for his liver dysfunction. NAFLD is a spectrum ranging from asymptomatic hepatic steatosis to cirrhotic liver disease. Non-alcoholic steatohepatitis or NASH is associated with inflammation and fibrosis in patients with NAFLD. The treatment of NAFLD centres around weight loss and management of other comorbidities. This patient does not have any clinical features of PBC (primary biliary cirrhosis) such as pruritus nor any abnormal bilirubin levels. Therefore ordering an AMA would have limited to no clinical utility in making a diagnosis.