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Clinical Vignette: Medical Grand Rounds Joshua L. Denson MD Internal Medicine PGY2 January 7, 2013 UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Chief Complaint •The patient is a 36 year-old man who presented with bloody diarrhea and abdominal pain for 10 days. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS History of Present Illness •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 UNITED STATES DEPARTMENT OF VETERANS AFFAIRS 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. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Additional History • Family History: Denies family history of colon cancer or inflammatory bowel disease. • Allergies: No Known Drug Allergies • Medications: None 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 UNITED STATES DEPARTMENT OF VETERANS AFFAIRS 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 UNITED STATES DEPARTMENT OF VETERANS AFFAIRS 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 UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Working Diagnosis • Ulcerative Colitis UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Hospital Course • Hospital Day 1: – Patient was begun on po and rectal 5aminosalicylate acid (5-ASA) as well as po steroids • Hospital Day 2-3: – The patients’ symptoms improved and he was subsequently discharged home. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Follow Up • Follow up Clinic Visit at 6 weeks – The patient was unable to be tapered off steroids and was begun on azathioprine UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Follow Up • Follow up Clinic Visit 10 weeks: – Repeat CBC revealed severe leukopenia – Thiopurine methyltransferase (TPMT) enzyme activity and genotype were sent UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Follow Up • 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 UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Final Diagnosis • Ulcerative Colitis with mutation in the TPMT gene potentiating myelosuppressive effects of azathioprine UNITED STATES DEPARTMENT OF VETERANS AFFAIRS