Challenges in Celiac Disease. Adam Stein, MD Director of Nutrition Support Northwestern University Feinberg School of Medicine

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1 Challenges in Celiac Disease Adam Stein, MD Director of Nutrition Support Northwestern University Feinberg School of Medicine

2 Disclosures None

3 Overview Celiac disease Cases

4 Celiac disease Inappropriate immune reaction to gluten Genetic predisposition Small bowel enteropathy Wide variety of clinical symptoms ~1% prevalence

5 Gluten Protein (Latin- glue) Found in wheat, rye, barley Provides a flexible quality to baked goods

6 Celiac disease: diagnosis Duodenal biopsy Serologic markers Response to gluten-free diet HLA type

7 Celiac disease: serologic markers * These numbers are all over the place in the literature. REMEMBER: patients must have adequate ability to make IgA, IgG

8 Celiac disease: treatment Gluten free diet

9 Celiac disease: follow up Rubio-Tapla et al. Am J Gastroenterol 2013

10 Case #1: Initial diagnosis

11 Case #1 31yoF without any medical problems Bloating, constipation x 6 months Fatigue / brain fog Minimal improvement with various bowel regimens

12 When to suspect celiac disease 300+ associated symptoms Asymptomatic GI Really anything Non-GI Iron deficiency Dermatitis herpetiformis (DH) brain fog Bone thinning Family history Other autoimmune diseases Screen everyone??

13 Celiac disease: workup Rubio-Tapla et al. Am J Gastroenterol 2013

14 Controversy in kids (diagnosis) ESPGHAN No biopsy needed to confirm Celiac if: TTGA > 10x ULN EMA positive on two separate blood samples HLA predisposition Husby et al. J Pediatr Gastroenterol Nut 2012; 54:136-60

15 Celiac disease: workup Rubio-Tapla et al. Am J Gastroenterol 2013

16 Case #1 TTGA IgA: 87 u/ml (normal < 10 U/mL) (TTGA = Tissue Transglutaminase Antibody)

17 Celiac disease: workup Rubio-Tapla et al. Am J Gastroenterol 2013

18 Case #1

19 Case #1 Freeman. Can J Gastroenterol 2008; 22:

20 Marsh classification IELs >25/100 enterocytes Shuppan et al. Dtsch Arztebl Int 2013; 110:

21 Celiac disease: workup Rubio-Tapla et al. Am J Gastroenterol 2013

22 Not all that atrophies is celiac Medications (ARBs) Infection Viral Tropical sprue Giardia Whipple disease Bacterial overgrowth Malnutrition in general GVHD CVID Crohn s Peptic damage Eosinophillic gastroenteritis

23 Case #2: Diagnosis on a gluten gree diet

24 Case #2 38yoF without medical problems Gluten free diet Constipation/bloating

25 Celiac disease: workup (gluten-free) Rubio-Tapla et al. Am J Gastroenterol 2013

26 Case #2 TTGA IgA: 5 u/ml (normal < 10 U/mL)

27 Celiac disease: workup (gluten-free) Rubio-Tapla et al. Am J Gastroenterol 2013

28 Case #2 HLA DQ2/DQ7

29 Celiac disease: workup (gluten-free) Rubio-Tapla et al. Am J Gastroenterol 2013

30 Case #3: Problems on a Gluten Free Diet

31 Case #3 49yoM with celiac disease x 5 years Bloating, irregular bowel habits New iron deficiency anemia

32 Case #3 Rubio-Tapla et al. Am J Gastroenterol 2013

33 Case #3 TTGA IgA: 93 u/ml (normal < 10 U/mL) Dietitian appointment

34 Case #3 Rubio-Tapla et al. Am J Gastroenterol 2013

35 Celiac disease: follow up Rubio-Tapla et al. Am J Gastroenterol 2013

36 Case #3 Repeat labs 3 months later No longer iron deficient TTGA IgA now 7 u/ml

37 Case #3 Returns 6 months later Bloating/constipation worse Gained 10 lbs

38 Common problems after diagnosis Bloating/constipation Weight gain Periods of symptom relapse

39 Bloating/constipation Common problem on a gluten free diet Ensure no active inflammation Consider abdominal Xray Treat like IBS-C Bowel regimen (polyethylene glycol) Hydrate Adjust fiber intake Reassurance

40 Weight gain More common than weight loss

41 Gluten versus Gluten Free

42 Case #4: Ongoing inflammation

43 Case #4 44yoF with celiac disease x 1 year Strict gluten free diet Ongoing diarrhea Serologies + biopsy still abnormal

44 Case #4 Rubio-Tapla et al. Am J Gastroenterol 2013

45 Refractory celiac disease 12+ months of persistent/recurrent villous atrophy on a strict gluten free diet Prevalence 1-2% Type 1 Mucosal lymphocytes are identical (clonal) to Celiac disease Treatment- steroids/azathioprine,?mesalamine, symptom control, nutritional interventions Type 2 Mucosal lymphocytes are abnormal (premalignant T-cell lymphoma) CD3 T-cells lack CD8 expression Oligoclonal T-cell expansion (lack of diversity) Same therapy, less likely to work, usually need TPN Poor prognosis Rubio-Tapla et al. Am J Gastroenterol 2013

46 Celiac disease: take-home points Find a good dietitian Secure the diagnosis Follow an algorithm for follow up Find the gluten Watch for weight gain and IBS-C Refractory celiac is rare

47 Questions??

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