The Great Mimic Disease. * Celiac disease is an autoimmune digestive disease that damages the villi...
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Transcript of The Great Mimic Disease. * Celiac disease is an autoimmune digestive disease that damages the villi...
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The “Great Mimic” Disease
Celiac Disease
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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.
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Gastrointestinal Manifestations
*Chronic diarrhea with or without weight loss
* Abdominal pain
* Vomiting / Nausea
* Constipation
* Abdominal distension or bloating
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Non Gastrointestinal Manifestations*Dermatitis Herpetiformis
* Iron-deficiency anemia resistant to oral Fe
*Dental enamel hypoplasia
of permanent teeth
*Osteopenia/Osteoporosis
*Short Stature
*Depression /Fatigue
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Dental Manifestations in CD
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Dermatitis herpetiformis
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Risk Factors for Celiac Disease
Prevalence among
Risk factor those with risk factor (%)
Dermatitis herpetiformis 100First-degree relative with 5 to 22 celiac diseaseAutoimmune thyroid disease 1.5 to 14Type 1 diabetes mellitus
Children 3 to 8Adults 2 to 5
Down syndrome 5 to 12Turner's syndrome 2 to 10
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Diagnosis of celiac disease
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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.
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Normal small intestine
Celiac Disease Villous atrophy
Normal villi
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*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.
HLA
?? ?
?
Gluten
Celiac Disease
+
Genes
Genetics
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Normal small bowel Celiac disease
Gluten
Gluten-free diet
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Treatment
* GLUTEN FREE DIET (dietician consult)
* Identification and treatment of nutritional deficiencies
* Advocacy group
* Pneumococcal vaccine
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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.