title: Celiac disease: an immune dysregulation syndrome.
abstract: Celiac disease is a chronic immune-mediated condition that develops in genetically predisposed individuals. It is characterized by the presence of circulating auto-antibodies in addition to an enteropathy and at times, other extra-intestinal manifestations triggered by exposure to the gliadin fraction of gluten, a family of proteins found in wheat, barley, and rye. There seems to be a rise in reported adverse reactions to gluten, an entity currently termed non-celiac gluten (or perhaps more accurately, wheat) sensitivity, where neither the enteropathy nor the auto-antibodies are present. Celiac disease has protean extra-intestinal manifestations, and an accurate diagnosis should be sought in people suffering from seemingly unrelated complaints, such as fatigue, anorexia, delayed puberty, short stature, decreased bone density, unusual skin rashes, unexplained iron deficiency, and infertility. The presence of an enteropathy, in conjunction with the positive serology, is considered the diagnostic gold standard for making the diagnosis of celiac disease. It is important to stress that the elimination of gluten, even in asymptomatic patients, brings about health benefits, particularly in relation to bone health, as well as a decrease in the incidence of small bowel malignancy, especially lymphoma. Better understanding of the pathophysiology of celiac disease and the molecular mechanisms involved in antigen recognition and processing has provided the impetus for the development of pharmacologic agents that might block the recognition of gluten and its conversion to a toxic antigenic target. Inhibition of tight junction dysregulation could also prevent or minimize the damage triggered by gluten. Work on genetically modified wheat cultivars has progressed, and the possibility of a vaccine to block the immune mediated trigger is being actively investigated. Education and guidance by a knowledgeable nutritionist or registered dietitian can go a long way in minimizing the stress and facilitating the acceptance of the diet and the life-style changes that it represents.
authors.affiliation: Department of Pediatrics, New York University School of Medicine, New York, NY.
authors.forename: Joseph
authors.initials: J
authors.lastname: Levy
authors.affiliation: Department of Pediatrics, New York University School of Medicine, New York, NY.
authors.forename: Leora
authors.initials: L
authors.lastname: Bernstein
authors.affiliation: Department of Pediatrics, New York University School of Medicine, New York, NY.
authors.forename: Nicole
authors.initials: N
authors.lastname: Silber
mesh_terms: D002446:Celiac Disease / Q000178:diet therapy* / Q000276:immunology / Q000503:physiopathology; D002648:Child; D002664:Child Nutritional Physiological Phenomena; D055050:Diet, Gluten-Free; D037001:Directive Counseling; D006801:Humans; D010349:Patient Compliance / Q000706:statistics & numerical data*; D010353:Patient Education as Topic