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Diagnostic Testing Algorithms for Celiac Disease


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Development of Celiac Disease

Slide 4

updated June 2011

For celiac disease to develop, the proper environmental exposure must occur in an individual with genetic susceptibility.

The environmental component is exposure to protein from wheat, barley, or rye.

Collectively, the protein agent from these cereal grains is known as gluten.

The genetic component of celiac disease had been inferred from observations that the disease occurred in families, with family members of individuals with a confirmed diagnosis of celiac disease being at a greater risk of being affected themselves.  Ultimately, specific alleles of the human leukocyte antigen complex, abbreviated as HLA, were demonstrated to be responsible for much of the genetic susceptibility.  These two specific alleles are HLA-DQ2 and HLA-DQ8.  The HLA-DQ2 allele is found in approximately 90 to 95% of individuals with celiac disease; the remaining 5 to 10% possess the HLA-DQ8.  Since HLA-DQ2 or HLA-DQ8 are found in virtually all patients with celiac disease, the absence of these alleles virtually excludes celiac disease as a diagnosis.  However, the presence of either allele is not diagnostic for the disease.  In other words, the HLA alleles are necessary, but not sufficient, for celiac disease to present in a given individual.

Development of Celiac Disease


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