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Celiac Disease. 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.
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Celiac Disease 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. What Is Celiac Disease?
Chronic diarrhea with or without weight loss • Abdominal pain • Vomiting / Nausea • Constipation • Abdominal distension or bloating Gastrointestinal Manifestations
Dermatitis Herpetiformis Iron-deficiency anemia resistant to oral Fe Dental enamel hypoplasia of permanent teeth Osteopenia/Osteoporosis Short Stature Depression /Fatigue Non Gastrointestinal Manifestations
Prevalence among Risk factorthose 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 Children3 to 8 Adults2 to 5 Down syndrome 5 to 12 Turner's syndrome 2 to 10 Risk Factors for Celiac Disease
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. DeamidatedGliadin 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. SEROLOGY
Normal small intestine Normal villi Celiac Disease 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. Genes ? ? ? HLA ? + Gluten Genetics Celiac Disease
Normal small bowel Celiac disease Gluten Gluten-free diet
GLUTEN FREE DIET (dietician consult) • Identification and treatment of nutritional deficiencies • Advocacy group • Pneumococcal vaccine Treatment
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. Take Home messages