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 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

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.