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Non-Invasive Diagnostic Tests for Celiac Disease


Helen Londe, M.D.
Contributing Editor

Celiac disease (CD) is an autoimmune inflammatory disease of the small intestine that is triggered in genetically susceptible persons by the ingestion of the gluten-containing grains wheat, rye, barley, and possibly oats. The condition is thought to result from the activation of both a T-cell and B-cell immune response, leading to mucosal inflammation, villous atrophy, and crypt hyperplasia, and is self-perpetuating with continued exposure to gluten.

The classical presentation of CD, with gluten-induced abnormal intestinal mucosa and intestinal malabsorption, has now been shown to be less common than silent or atypical presentation, in which patients do not have intestinal symptoms, although they have abnormal intestinal mucosa. Atypical clinical manifestations of CD include dermatitis herpetiformis, insulin-dependent diabetes mellitus, autoimmune thyroid disease, and chronic fatigue. Untreated CD is associated with multiple important short- and long-term complications including nutritional derangements, anemia, reduced bone density, as well as intestinal lymphoma. It has been reported that gastrointestinal carcinomas or T-cell lymphomas develop in up to 15 percent of patients with untreated or refractory CD, but it is widely believed that strict adherence to a gluten free diet reduces the risk of these complications.

CD is often under-diagnosed, even in countries such as Finland where the level of awareness of the disease is high, and in the United States, a survey conducted in 2001 found that US celiac patients experience symptoms for an average of 11 years before diagnosis. Although the true prevalence of CD is difficult to estimate because of its variable presentation, recent epidemiologic studies using sensitive and specific serologic tests have revealed that it is one of the most common lifelong disorders among European and American Caucasians, with a prevalence i
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