Presentation on theme: "The “Great Mimic” Disease"— Presentation transcript:
1 The “Great Mimic” Disease Celiac DiseaseThe “Great Mimic” Disease
2 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 misdiagnosed6-10 years is the average time a person waits to be correctly diagnosed.
3 Gastrointestinal Manifestations Chronic diarrhea with or without weight lossAbdominal painVomiting / NauseaConstipationAbdominal distension or bloating
4 Non Gastrointestinal Manifestations Dermatitis HerpetiformisIron-deficiency anemiaresistant to oral FeDental enamel hypoplasiaof permanent teethOsteopenia/OsteoporosisShort StatureDepression /Fatigue
7 Risk Factors for Celiac Disease Prevalence amongRisk factor those with risk factor (%)Dermatitis herpetiformis 100First-degree relative with 5 to 22celiac diseaseAutoimmune thyroid disease 1.5 to 14Type 1 diabetes mellitusChildren 3 to 8Adults 2 to 5Down syndrome 5 to 12Turner's syndrome 2 to 10
9 SEROLOGYSerum 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.
10 Normal small intestine Normal villiCeliac DiseaseVillous atrophy
11 Genetics Multiple genes involved The most consistent genetic component depends on the presence of HLA-DQ (DQ2 and/or DQ8) genesOne or both of these genes are found in 95% of celiac patientsHaving one or more of these genes doesn’t mean you will develop celiac, but if you have the disease you likely have the gene.Genes????HLA+GlutenCeliac Disease
12 Normal small bowelCeliac diseaseGlutenGluten-free diet
13 Treatment GLUTEN FREE DIET (dietician consult) Identification and treatment of nutritional deficienciesAdvocacy groupPneumococcal vaccine
14 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.