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.
*Chronic diarrhea with or without
weight loss
* Abdominal pain
* Vomiting / Nausea
* Constipation
* Abdominal distension or bloating
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*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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Dermatitis herpetiformis
Prevalence among
Risk factor
Dermatitis herpetiformis
First-degree relative with
celiac disease
Autoimmune thyroid disease
Type 1 diabetes mellitus
Children
Adults
Down syndrome
Turner's syndrome
those with risk factor (%)
100
5 to 22
1.5 to 14
3
2
5
2
to 8
to 5
to 12
to 10
* 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
Normal villi
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.
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Genes
?
?
?
HLA
?
+
Gluten
Celiac Disease
Normal small bowel
Celiac disease
Gluten
Gluten-free diet
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* GLUTEN FREE DIET (dietician consult)
* Identification and treatment of
nutritional deficiencies
* Advocacy group
* Pneumococcal vaccine
*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.