Question: A 30-year-old Jewish Male Presents To Your Office With A Complaint Abdominal Pain And Distention, Non-bloody Diarrhea, Mild Nausea And Vomiting. He Has No Prior Medical History And Has Not Had Any Surgeries. His Mother Has Inflammatory Bowel Disease. The Pain And Diarrhea Has Been Ongoing For The Three Months And He Has Lost 30lbs Since Its Onset. He …

A 30-year-old Jewish male presents to your office with acomplaint abdominal pain and distention, non-bloody diarrhea, mildnausea and vomiting. He has no prior medical history and has nothad any surgeries. His mother has inflammatory bowel disease. Thepain and diarrhea has been ongoing for the three months and he haslost 30lbs since its onset. He is febrile with a temperature of38.5 C. Examination reveals multiple oral aphthous ulcers,hyperactive bowel sounds, and a grossly distended, diffusely tenderabdomen without an appreciable mass. Abdominal radiographs revealmultiple air-fluid levels in the small bowel with minimal colonicgas consistent with small bowel obstruction. He had a colonoscopy 2weeks ago and a biopsy was completed. The report in the chart showsthe following: chronic granulomatous lesions with a cobblestoneappearance surrounded by inflammation and ulceration.

Questions

1. The clinical scenario is most consistent with which disorder?You may simply list your answer below using a bullet point format.This does not have to be in a complete sentence.

2. What data in the clinical scenario supports your diagnosis? Youmay simply list your answers below using a bullet point format.This does not have to be in a complete sentence. Interpret the labsthat you list as part of your answer by indicating normal, high orlow.

3. What risk factor(s) led to this person’s diagnosis? You maysimply list your answer below using a bullet point format. Thisdoes not have to be in a complete sentence.

4. Describe the key pathophysiologic concepts. To answer thisquestion completely, you must answer all of the sub-questions belowusing complete sentences. Each sub-question may be answered in 1-6sentences.
   1. Which genetic mutation is associated with the development ofthe disorder identified in question 1?
   2. What is the most common site affected by the disorder.
   3. What is the pathological process which explains this patient’sweight loss?

5. For what actual or potential complications related to thediagnosis in question 1 does she need to be monitored? You maysimply list your answer(s) below using a bullet point format. Thisdoes not have to be in a complete sentence.