Celiac disease: diagnosis, autoimmune mechanisms and treatment

Abstract

Celiac disease is a systemic autoimmune disorder triggered by the ingestion of gluten found in wheat and related grains. Once considered rare, celiac disease is now thought to affect more than one in 100 individuals, and is commonly associated with other autoimmune disorders. It predisposes patients to an increased risk of malignancy if left untreated. Celiac disease is HLA restricted as only HLA-DQ2 and -DQ8 are able to bind deamidated gluten with sufficient affinity to trigger an immune response. Both cellular and humoral immune activation occur, leading to local tissue damage and antibody formation. These antibodies, primarily to tissue transglutaminase, are the basis for highly accurate serologic testing, although the gold standard for celiac disease diagnosis remains small intestinal biopsy. Currently, the only treatment for celiac disease is a life-long gluten-free diet, although multiple novel therapeutic modalities are being studied. Although most individuals with celiac disease respond completely to gluten withdrawal, 10–20% have persistent symptoms at some point during their course and less than 1% develop refractory celiac disease, an entity of substantial morbidity.