1. Celiac Disease in Primary Care Dustin M Adkins Spring 2007

2. Essentials of Celiac Disease Autoimmune disorder triggered by gluten “Gluten” is a collective term for the storage proteins of wheat, rye, and barley. Adaptive/innate immune response damages villi in the proximal small intestine Not just GI complaints! A multisystem disorder with highly variable presentation Increased risk of Non Hodgkins Lymphoma (2.7-6.3x) and overall mortality (1.9-3.4x)

3. Epidemiology Not as “rare” as once thought Affects 1:100 in USA (AGA 2007) Under- diagnosed

4. Classical (Textbook) Celiac Disease Symptoms and complications of malabsorption Hallmark: Diarrhea/steatorrhea (chronic) Abdominal distension, edema, extreme lethargy, weight loss, failure to thrive Onset at any age, gradual or rapid Often fulfills criteria for IBS. Be suspicious of refractory IBS-D especially with associated celiac symptoms! http://www.pigur.co.il/imgceliac/celiac.jpg

5. http://webedit.caregroup.org/content/bidmc/Departments/Medicine/Gastroenterology/images/DHimage.jpg http://pathmicro.med.sc.edu/ghaffar/mhcderm.jpg http://merck.micromedex.com/images/bpm/BPM01DE05F09.gif Dermatitis Herpetiformis is “classically” associated with Celiac Disease. Only in a minority of patients.

6. Atypical Celiac Disease MOST COMMON presentation Extra-intestinal manifestations dominate Blood, Bones, & Babies  Iron deficiency anemia: Unexplained or iron- therapy-refractory (2.3%-5.0%)  Osteoporosis: Premature onset (1.0%-3.4%)  Infertility: Unexplained, recurrent fetal loss (2.1%-4.1%) Many other S/Sx: short stature, fatigue, delayed puberty, vitamin deficiencies…

7. Clinical Presentation of Celiac Disease Summary of the clinical presentation of celiac disease. Included 170 biopsy-diagnosed celiac disease patients diagnosed between 1993 and 2000 (Lo 2003).

8. Asymptomatic Celiac Disease Often detected when screening 1° relatives, or incidentally during EGD Risk of complications, lymphoma, mortality still exists!

9. Associated Disorders (HLA DQ2/DQ8) Autoimmune (10-fold ↑)  Thyroiditis (3%)  Type I Diabetes (1-12%)  Sjögren’s syndrome  Addison’s disease  Autoimmune liver disease  Cardiomyopathy Other related disorders  Down syndrome (3-12%)  Turners syndrome  Williams syndrome  Ulcerative colitis  Crohns disease  IgA nephropathy  Occipital calcifications  Neuropsychiatric d/o’s

10. Diagnosis Anti-tTG IgA is the single most effective test for PCPs! (95% Sens; 98% Spec) Genetic tests can only rule out Celiac disease (HLA DQ2/DQ8) Duodenal biopsy (EGD) remains the Gold Standard http://www.glutenfreeworks.com/gluten_explained.php http://www.bidmc.harvard.edu/display.asp?node_id=7715

11. Treatment: Lifelong Gluten-Free Diet Difficult task for the patient. Should see a registered dietician Complicated by fast- food lifestyles, hidden ingredients, poor labeling, and costly/unavailable specialty foods. Lifelong diet normalizes mortality/comborbidity risks Never advise a patient to start a Gluten-Free Diet before biopsy! It alters the histopathology requiring additional testing ($$$), and ticks off the gastroenterologist!

12. Lifelong care for the Celiac Patient Take a good history! Symptom improvement doesn’t mean all gluten has been removed from the diet. Make sure the patient has support  Celiac support groups  Tons of online info on gluten-free dieting Work with pharmacist to avoid gluten in drugs  Nardil, Humira, Flonase, Claritin…look it up!  Inactive ingredients (dextri-maltose, dusting powder, starches) Watch out for anemia, osteoporosis, infertility, and vitamin deficiencies

13. Participation time! Which is gluten-free? Modified Food Starch Malt Restaurant Contamination? Wheat