The “Great Mimic” Disease Celiac Disease
Feb 23, 2016
The “Great Mimic” Disease
Celiac Disease
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.
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
Dermatitis herpetiformis
Risk Factors for Celiac Disease
Prevalence among Risk factor those with risk factor (%)
Dermatitis herpetiformis 100First-degree relative with5 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
Diagnosis of celiac disease
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.
Normal small intestine
Celiac Disease Villous atrophy
Normal villi
*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
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Gluten
Celiac Disease
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Genes
Genetics
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Normal small bowel Celiac disease
Gluten
Gluten-free diet
Treatment
* GLUTEN FREE DIET (dietician consult)
* Identification and treatment of nutritional deficiencies* Advocacy group* Pneumococcal vaccine
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.