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The Great Mimic Disease. * Celiac disease is an autoimmune digestive disease that damages the villi of the small intestine and interferes with the absorption.

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Presentation on theme: "The Great Mimic Disease. * Celiac disease is an autoimmune digestive disease that damages the villi of the small intestine and interferes with the absorption."— Presentation transcript:

1 The Great Mimic Disease

2 * 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.

3 * Chronic diarrhea with or without weight loss * Abdominal pain * Vomiting / Nausea * Constipation * Abdominal distension or bloating 3

4 * Dermatitis Herpetiformis * Iron-deficiency anemia resistant to oral Fe * Dental enamel hypoplasia of permanent teeth * Osteopenia/Osteoporosis * Short Stature * Depression /Fatigue 4

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6 Dermatitis herpetiformis

7 Prevalence among Risk factor those with risk factor (%) Dermatitis herpetiformis100 First-degree relative with5 to 22 celiac disease Autoimmune thyroid disease1.5 to 14 Type 1 diabetes mellitus Children3 to 8 Adults2 to 5 Down syndrome5 to 12 Turner's syndrome2 to 10

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9 * 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.

10 Normal small intestine Celiac DiseaseVillous atrophy Normal villi

11 * 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 doesnt mean you will develop celiac, but if you have the disease you likely have the gene. HLA ? ? ? ? Gluten Celiac Disease + Genes 11

12 12 Normal small bowel Celiac disease Gluten Gluten-free diet

13 * GLUTEN FREE DIET (dietician consult) * Identification and treatment of nutritional deficiencies * Advocacy group * Pneumococcal vaccine

14 * 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.


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