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The “Great Mimic” Disease

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1 The “Great Mimic” Disease
Celiac Disease The “Great Mimic” Disease

2 What Is Celiac 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.

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

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

5 Dental Manifestations in CD

6 Dermatitis herpetiformis

7 Risk Factors for Celiac Disease
Prevalence among Risk factor those with risk factor (%) Dermatitis herpetiformis 100 First-degree relative with 5 to 22 celiac disease Autoimmune thyroid disease 1.5 to 14 Type 1 diabetes mellitus Children 3 to 8 Adults 2 to 5 Down syndrome 5 to 12 Turner's syndrome 2 to 10

8 Diagnosis of celiac disease

9 SEROLOGY 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
Normal villi Celiac Disease Villous atrophy

11 Genetics 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. Genes ? ? ? ? HLA + Gluten Celiac Disease

12 Normal small bowel Celiac disease Gluten Gluten-free diet

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

14 Take Home messages 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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