The “Great Mimic” Disease * Celiac disease is an autoimmune digestive disease that damages the villi of the small intestine and interferes with the absorption of nutrients from food. * It occurs in reaction to gluten, a protein found in rye, barley, and wheat. * Eating gluten triggers an immune response in the small intestine producing inflammation. * 1% of the population (3 million people) have it. * It is estimated that 83% of Americans who have this disease are undiagnosed or misdiagnosed * 6-10 years is the average time a person waits to be correctly diagnosed. *Chronic diarrhea with or without weight loss * Abdominal pain * Vomiting / Nausea * Constipation * Abdominal distension or bloating 3 *Dermatitis Herpetiformis * Iron-deficiency anemia resistant to oral Fe *Dental enamel hypoplasia of permanent teeth *Osteopenia/Osteoporosis *Short Stature *Depression /Fatigue 4 Dermatitis herpetiformis Prevalence among Risk factor Dermatitis herpetiformis First-degree relative with celiac disease Autoimmune thyroid disease Type 1 diabetes mellitus Children Adults Down syndrome Turner's syndrome those with risk factor (%) 100 5 to 22 1.5 to 14 3 2 5 2 to 8 to 5 to 12 to 10 * Serum immunoglobulin A (IgA) endomysial antibodies and IgA tissue transglutaminase (tTG) antibodies. Sensitivity and specificity > 95%. * Testing for gliadin antibodies is no longer recommended because of the low sensitivity and specificity for celiac disease. * Deamidated Gliadin Peptide [DGP]) may yield far higher diagnostic accuracy (sensitivity 94 %, specificity 99 %) * The tTG antibody test is less costly because it uses an enzyme- linked immunosorbent assay; it is the recommended single serologic test for celiac disease screening in the primary care setting.. * Serologic testing may not be as accurate in children less than age five and is less accurate before age two. * Confirmatory testing, including small bowel biopsy, is advised. Normal small intestine Celiac Disease Normal villi Villous atrophy *Multiple genes involved *The most consistent genetic component depends on the presence of HLA-DQ (DQ2 and/or DQ8) genes *One or both of these genes are found in 95% of celiac patients *Having one or more of these genes doesn’t mean you will develop celiac, but if you have the disease you likely have the gene. 11 Genes ? ? ? HLA ? + Gluten Celiac Disease Normal small bowel Celiac disease Gluten Gluten-free diet 12 * GLUTEN FREE DIET (dietician consult) * Identification and treatment of nutritional deficiencies * Advocacy group * Pneumococcal vaccine *CD is common. *IgA tTG -good screening test for CD. ( exceptions- < 2 years) *If CD is suspected, confirm by biopsy before initiation of gluten free diet. ( expensive and lifelong diet ) *NCGS – may be common; more studies needed.