Clinical Information

Celiac disease (CD) is a genetically inherited autoimmune digestive disease and tends to occur in families of European descent. Family members of people with CD or dermatitis herpetiformis are at increased risk of CD.

CD is characterized by a permanent intolerance to gluten. When gluten is ingested, the immune system triggers an isolated inflammatory response in the small intestinal mucosa.

A lifetime gluten-free diet can completely stop the immune response. Once the patient is on a gluten-free diet, the small intestine begins to repair itself and the antibody levels decline and eventually disappear. However, reintroduction of gluten-containing products stimulates the immune response again. A significant reduction in morbidity and mortality occurs when patients adhere to the gluten-free diet.

Patients with CD produce various autoantibodies, including endomysial (EMA), tissue transglutaminase (tTG), gliadin, and reticulin antibodies, as part of the immune response. IgA antibodies usually predominate although patients may also produce IgG autoantibodies. The levels of these antibodies decline following institution of a gluten-free diet.

tTG is the primary autoantigen recognized by EMA antibodies in patients with CD and is currently considered the most useful first level screening test for CD. Reticulin antibodies are no longer considered useful in the diagnosis of CD because they lack the sensitivity and specificity of the EMA and tTG tests.

Serological screening offers a minimally invasive option for rapid identification of those likely to have CD and to select those who should be subjected to biopsy. Markedly positive (serologically) individuals are highly likely to have CD and should undergo biopsy to confirm the diagnosis.