Individuals with CD may present with a severe or mild enteropathy at different times of their life. In fact, some individuals have had normal jejunal biopsy results while taking a normal diet but at some other time have had a flat jejunal biopsy specimen and recovered while using a gluten-free diet. For such individuals, the definition of latent CD has been proposed. This definition can also be applied to “late relapsers” (10–12).
The diagnosis of CD requires both a jejunoduodenal biopsy specimen that shows the characteristic findings of intraepithelial lymphocytosis, crypt hyperplasia, and villous atrophy (Figure 1) and a positive response to a gluten-free diet. The diagnostic criteria developed by the European Society for Pediatric Gastroenterology and Nutrition (2) require only clinical improvement with the diet, although histological improvement with a gluten-free diet is frequently sought and is recommended for adults because villous atrophy may persist despite a clinical response to the diet. In most patients, the diagnosis is easily established. However, roughly 10% of cases are difficult to diagnose because of a lack of concordance among the serological, clinical, and histological findings (1–3).
The most sensitive antibody tests for the diagnosis of CD are of the IgA class. The recognition that the enzyme tissue transglutaminase is the autoantigen for the development of endomysial antibodies has allowed the development of automated enzyme-linked immunoassays that are less expensive than the endomysial antibody test. Overall, the sensitivity of the tests for both endomysial antibodies and anti–tissue transglutaminase antibodies is greater than 90%, and a test for either marker is considered the best means of screening for CD (Table 5). The titers of endomysial antibodies and anti–tissue transglutaminase antibodies correlate with the degree of mucosal damage; as a result, the sensitivity of these antibody tests declines when a greater number of patients with lesser degrees of villous atrophy are included in studies. The various commercially available assays for anti–tissue transglutaminase antibodies have different characteristics and resultant sensitivities and specificities.
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