1. Clinical Vignette: Medical Grand Rounds Joshua L. Denson MD Internal Medicine PGY2 January 7, 2013 U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

2. The patient is a 36 year-old man who presented with bloody diarrhea and abdominal pain for 10 days. Chief Complaint U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

3. 3 weeks prior to presentation, the patient complained of daily small volume, loose, bloody bowel movements. He had urgency to move his bowels and crampy left sided abdominal pain. No recent antibiotic use or hospitalizations History of Present Illness U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

4. Additional History Past Medical History: Hyperlipidemia Past Surgical History: None Social History: Denies tobacco, alcohol, and drug use. No recent travel. Lives with his wife, monogamous. No children. No pets. Works as an accountant. U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

5. Additional History Family History: Denies family history of colon cancer or inflammatory bowel disease. Allergies: No Known Drug Allergies Medications: None

6. Physical Examination General: well developed man in mild distress, appears uncomfortable Vital Signs: list T: 100.2 BP: 125/70 HR: 99 RR:18 and O2 sat: 100% on ambient air Abdomen: tender to palpation left lower quadrant, some voluntary guarding Remainder of Physical Exam normal U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

7. Laboratory Findings CBC: hemoglobin level was 10.6 g/dl. Remainder of CBC was within normal limits Basic Metabolic panel: within normal limits Hepatic panel: within normal limits Stool culture, ova, and parasites within normal limits Fecal Leukocytes were positive U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

8. Other Studies CT Abdomen and Pelvis revealed proctosigmoiditis and left sided colitis consistent with inflammatory bowel disease Colonoscopy revealed friable granular tissue involving the rectum and sigmoid colon confirming ulcerative colitis U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

9. Ulcerative Colitis Working Diagnosis U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

10. Hospital Day 1: –Patient was begun on po and rectal 5- aminosalicylate acid (5-ASA) as well as po steroids Hospital Day 2-3: –The patients’ symptoms improved and he was subsequently discharged home. Hospital Course U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

11. Follow up Clinic Visit at 6 weeks –The patient was unable to be tapered off steroids and was begun on azathioprine Follow Up U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

12. Follow up Clinic Visit 10 weeks: –Repeat CBC revealed severe leukopenia –Thiopurine methyltransferase (TPMT) enzyme activity and genotype were sent Follow Up U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

13. Follow up Clinic Visit 12 weeks: –TPMT enzyme activity returned low –TPMT genotype was homozygous for mutant allele –The patient was switched to infliximab therapy Follow Up U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS

14. Ulcerative Colitis with mutation in the TPMT gene potentiating myelosuppressive effects of azathioprine Final Diagnosis U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS