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 is febrile with a temperature of 38.5°C. Examination reveals multiple oral aphthous ulcers, hyperactive bowel sounds, and a grossly distended, diffusely tender abdomen without an appreciable mass. Abdominal radiographs reveal multiple air-fluid levels in the small bowel with minimal colonic gas consistent with a small bowel obstruction. He had a colonoscopy 2 weeks ago and a biopsy was completed. The report in the chart shows the following: chronic granulomatous lesions with a cobblestone appearance 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? You may simply list your answers below using a bullet point format. This does not have to be in a complete sentence.  

3. What risk factor(s) led to this person’s diagnosis? You may simply list your answer below using a bullet point format. This does not have to be in a complete sentence.
4. Describe the key pathophysiologic concepts. To answer this question completely, you must answer all of the sub-questions below using complete sentences. Each sub-question may be answered in 1-6 sentences.
   1. Which genetic mutation is associated with the development of the 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’s weight loss?
5. For what actual or potential complications related to the diagnosis in question 1 does she need to be monitored? You may simply list your answer(s) below using a bullet point format. This does not have to be in a complete sentence.

Answer 1

* The clinical scenario states IBS inflammatory bowel disorder.

* the clinical signs supporting are:

# abdominal pain

# diarhea

# fever

# weight loss

# physical examination reveals hyperactive bowel sounds

* The risk factors are:

# family history

# diarrhea