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The “Great Mimic”
* Celiac disease is an autoimmune digestive disease
that damages the villi of the small intestine and
interferes with the absorption of nutrients from
* 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
*Dermatitis Herpetiformis
* Iron-deficiency anemia
resistant to oral Fe
*Dental enamel hypoplasia
of permanent teeth
*Short Stature
*Depression /Fatigue
Dermatitis herpetiformis
Prevalence among
Risk factor
Dermatitis herpetiformis
First-degree relative with
celiac disease
Autoimmune thyroid disease
Type 1 diabetes mellitus
Down syndrome
Turner's syndrome
those with risk factor (%)
5 to 22
1.5 to 14
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.
Celiac Disease
Normal small bowel
Celiac disease
Gluten-free diet
* 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