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Abstract

Celiac disease (CD) is a complex multifactorial disorder with autoimmune features occurring only in genetically predisposed individuals, carrying the human leukocyte antigen (HLA)-DQ2 and/or -DQ8 alleles, upon ingestion of gluten-containing dietary products. HLA predisposition explains only 35 % of the disease genetic susceptibility, while the remaining is due to numerous non-HLA genes that singularly contribute to a much lower extent to CD heritability. The prevalence of the disease is about 1 % of the general population; environmental factors in addition to gluten, such as dysbiosis, viral infection, and infancy feeding practices, may contribute to disease development. From a pathogenic standpoint, CD is characterized by a gluten-specific immune-mediated reaction arising in the small-intestinal mucosa that finally leads to tissue damage. The typical histological hallmarks of CD are an increased infiltration of intraepithelial lymphocytes, crypts hyperplasia, and villous atrophy. These microscopic features, together with the detection of CD-specific autoantibodies, allow the clinical diagnosis of CD. Its clinical presentation could widely vary from asymptomatic subjects to severe malabsorption leading to diarrhea and nutritional deficiencies. CD is often associated with other autoimmune condition (such as type-1 diabetes) and other congenital disorders (such as Down syndrome). The only currently available treatment is represented by a lifelong strict gluten-free diet, but many new potential therapies are under investigation and will be hopefully available in the nearest future.

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Guandalini, S., Discepolo, V. (2016). Celiac Disease. In: Guandalini, S., Dhawan, A., Branski, D. (eds) Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. Springer, Cham. https://doi.org/10.1007/978-3-319-17169-2_40

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