IBD Case of the Month: Pediatric Diagnosis of IBD

1. IBD Case of the Month:Pediatric Diagnosis of IBD Developed by the CCFA Nursing Initiatives Committee Author: Kristin Madden, NP University of Nebraska Medical Center Children’s Hospital & Medical Center

2. Instructions To begin, please enter into “Presentation mode” to enable full interactivity of case and questions.When you see words or phrases that are underlined click on the underlined word and this will take you to the next screen. To continue the presentation make sure you click back in the bottom left corner.

3. Objectives • Identify ‘red flag’ symptoms and how to order labs/diagnostics to lead you to diagnosis. • Identify radiologic, laboratory, and more invasive methods of testing for diagnosis of IBD.

4. Introduction/Background • November 2011: a 21 month old female presents to clinic with chief complaint of hematochezia. • History includes 6-8 weeks of loose stools (4-5x/day) with visible mucus and bright red blood. No recent laboratory tests have been conducted.

5. What additional information will be helpful? • What is the family history? • Is there important birth history? • Is the review of systems revealing of additional factors?

6. Review of Systems (ROS)What is important & why • General: pertinent negatives – no recent travel, no recent antibiotics. This is important to evaluate as we need to consider infectious etiologies to the presenting symptoms. • Skin: no eczema, no erythema nodosum or pyodermagangrenosum. These findings are supportive evidence for allergic vs inflammatory or autoimmune diseases. • ENT: Determine if there are any additional chronic disease processes or mouth sores that could support Crohn Disease. • Respiratory: Any chronic cough, asthma or pneumonias that would indicate aspiration or compromised immune system? • Cardiovascular: Rule out chronic disease of heart, hypertension, etc. • GU: Rule out anatomical issues or urinary reflux. • Muscular/Skeletal: Is there hypotonia, developmental delay or syndromic appearances? • Hematologic/Lymphatic: Easy bruising/bleeding present (liver disease)? Any enlarged lymph nodes? • Neurologic: Headaches or irritability present? • Endocrine: Are there current Autoimmune diseases present increasing risk for GI Autoimmune Disease?

7. Physical Exam • Vitals: Temp – 36.5, Pulse – 109, Resp – 30, BP – 94/69 • Growth: Head Cir – 45.7, Height – 77.6, Weight – 9.75, Weight for Length – 35.75% • General: alert, no distress • Head: normocephalic • Eyes/Ears/Nose/Throat: sclera clear, conjunctiva pink, nose clear, throat clear, without oral lesions • Neck: supple, no masses • Lungs: clear to auscultation bilaterally • CV: regular rate and rhythm, no murmur, equal pulse and cap refill<3 sec • Abdomen: soft, nondistended, nontender, no organomegaly, normal bowel sounds, no masses/hernia/guarding. Liver edge palpable 2-3 cm below right costal margin • Skin: No eczema and no skin rash noted. • Musculoskeletal: No reported joint pain or stiffness

8. Previous Workup • Radioallergosorbenttest (RAST) positive for cows milk allergy • Complete blood count (CBC) – normal/no anemia • Liver enzymes (AST/ALT) – 614/832; elevated • Erythrocyte Sedimentation Rate (ESR) – 64; elevated inflammatory marker • C-reactive Protein (CRP) – 11.1; elevated inflammatory marker • Fecal occult blood – positive

9. Do you have red flags/cause for concern based on physical exam & previous workup? • No concern • Only minimal concern • Significant concern • Major concern indicating need for admission

10. Do you have a Differential Diagnosis? • Autoimmune hepatitis or Primary Sclerosing Cholangitis • Celiac Disease • Constipation • Crohn's Disease • Functional Abdominal Pain • Immune Deficiency • Infection • Irritable Bowel Syndrome • Metabolic Disease • Milk +/- soy protein allergy • Ulcerative Colitis

11. What would be ordered for workup? • Allergy testing • Blood work • Capsule endoscopy • CT enterography or MR enterography • Liver Biopsy • pH probe • Upper endoscopy and colonoscopy • Stool studies • Upper GI • Nothing

12. Laboratory Results • CBC – unremarkable • ESR 53 (h), CRP 0.7 • AST - 345/ALT – 925 (h) • GGT – 446 (h) • ANA – negative • SMA – 48 (+) • IgG – 1405 (h) • ANCA – 1:80 (+) • Fecal Calprotectin1207 (h) • Acute Hepatitis Panel (-) • Stool Culture, C-diff and Adeno (-) • AFP – 4 • CPK – 116 • Urine organic/serum amino (-) • Scopes (pathology) – Cecum, transverse, descending and ascending colon with focal acute colitis. • Liver biopsy (pathology) – Dense portal inflammation with cholangiolar proliferation. Cholangitis. Portal fibrosis with bridging fibrosis Stage III/IV.

13. What is your Diagnosis? • Autoimmune liver disease based on liver biopsy results: Dense portal inflammation with cholangiolar proliferation. Cholangitis. Portal fibrosis with bridging fibrosis Stage III/IV. • Cholangitis can be seen in Autoimmune or Primary Sclerosing Cholangitis. • Inflammatory Bowel Disease – likely ulcerative colitis based on pathology: Cecum, transverse, descending and ascending colon with focal acute colitis. Prefer to see both chronic and acute inflammation. But will start treatment based on these results.

14. What is your plan of care? • Treat colitis with Sulfasalazine 10mg/kg TID (maintenance dose for >2 years is 30-50 mg/kg/day) • Prednisolone 1 mg/kg BID • Azathioprine 1 mg/kg (after obtaining TPMT enzyme activity level +/- genetics) • Follow clinical response to treatment and laboratory response to treatment

15. Summary • In this case study it is important to complete a workup and not be distracted by the young age of the patient or the history of milk protein allergy as an explanation for blood in the stool. • If workup had not been completed it could have been easy to miss colitis and liver disease.

16. Thank you! We hope you enjoyed this case. Check back next month for a new case! Please complete a brief evaluation to provide us with feedback on this program: https://www.surveymonkey.com/s/ibdnurse