

The overall risk of developing celiac diseases when the genotype is unknown is 7% to 20%.Ī negative gene test excludes the possibility of later developing celiac disease, so this can be valuable information for first-degree family members. First-degree family members (parents, siblings, children), who have the same genotype as the family member with celiac disease, have up to a 40% risk of developing celiac disease. Since celiac disease is genetic, this means it runs in families.

However, if you carry HLA DQ2 and/or DQ8, your risk of developing celiac disease is 3% instead of the general population risk of 1%. Carrying HLA DQ2 and/or DQ8 is not a diagnosis of celiac disease nor does it mean you will ever develop celiac disease. People with celiac disease carry one or both of the HLA DQ2 and DQ8 genes, but so does up to 25-30% of the general population. Radiology: Some radiological findings may indicate the presence of celiac disease, e.g., small-bowel dilation, wall thickening, vascular changes, and others. Intestinal fatty acid binding protein (I-FABP): When cellular damage occurs, this cytosolic protein is released into the systemic circulation of blood and could indicate unintentional gluten intake. VCE is also useful in detecting complications linked with celiac disease. This method of testing is more sensitive at detecting macroscopic atrophies in comparison with regular upper endoscopy (92% vs. Video capsule endoscopy (VCE): VCE has a sensitivity of 89% and specificity of 95% for celiac diagnosis. If your tests were negative, but you continue to experience symptoms, consult your physician and undergo further medical evaluation. While it is very rare, it is possible for someone with celiac disease to have negative antibody test results. IgA deficiency in a patient may be indicative of other diseases that may cause villus atrophy, such as giardiasis, small-bowel bacterial overgrowth (SIBO) or common variable immunodeficiency (CVID). If you are IgA deficient, your doctor can order a DGP or tTG-IgG test.ĭeamidated gliadin peptide (DGP IgA and IgG): This test can be used to further screen for celiac disease in individuals with IgA deficiency, which affects 2-3% of patients with celiac disease, or people who test negative for tTg or EMA antibodies. Total serum IgA: This test is used to check for IgA deficiency, a condition associated with celiac disease that can cause a false negative tTG-IgA or EMA result. It is usually reserved for difficult to diagnose patients.

It is also very expensive in comparison to the tTG-IgA and requires the use of primate esophagus or human umbilical cord. About 5-10% of people with celiac disease do not have a positive EMA test. IgA Endomysial antibody (EMA): The EMA test has a specificity of almost 100%, making it the most specific test for celiac disease, although it is not as sensitive as the tTG-IgA test. There are other antibody tests available to double-check for potential false positives or false negatives, but because of potential for false antibody test results, a biopsy of the small intestine is the only way to diagnose celiac disease. There is also a slight risk of a false positive test result, especially for people with associated autoimmune disorders like type 1 diabetes, autoimmune liver disease, Hashimoto’s thyroiditis, psoriatic or rheumatoid arthritis, and heart failure, who do not have celiac disease. The same test will come back negative in about 96% of healthy people without celiac disease. This refers to the test’s sensitivity, which measures how correctly it identifies those withthe disease.

The tTG-IgA test will be positive in about 93% of patients with celiac disease who are on a gluten-containing diet. All celiac disease blood tests require that you be on a gluten-containing diet to be accurate.
#Screen marker plus
For most children and adults, the best way to test for celiac disease is with the Tissue Transglutaminase IgA antibody (tTG-IgA), plus an IgA antibody in order to ensure that the patient generates enough of this antibody to render the celiac disease test accurate.įor young children (around age 2 years or below), Deamidated Gliadin IgA and IgG antibodies should also be included.
