Carlo Catassi; Alessio Fasano


Curr Opin Gastroenterol. 2008;24(6):687-691. 

In This Article

Abstract and Introduction


Purpose of Review: Recent advances in the clinical, epidemiological, genetic, and therapeutic aspects of celiac disease have made this condition a superb model of autoimmunity. This review will outline the most significant work that contributed to our current knowledge of the disease.
Recent Findings: Celiac disease is not confined to the Caucasian population as previously believed; rather its prevalence is approximately 1% worldwide. In addition to the HLA genes, many other genes involved in innate and adaptive immunity, intestinal barrier regulation, and autoimmunity have been identified as integral genetic components of the disease. Based on this information and on a better understanding of celiac disease pathogenesis, novel therapies alternative to the gluten-free diet are currently in advanced phase of development.
Summary: The outcome of these new findings will most likely have a significant impact in clinical practice, including diagnosis and management of the disease. Furthermore, celiac disease can be used as a unique model to gain more insights on the pathogenesis of autoimmune diseases.


Celiac disease is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Gluten is the major protein component of wheat, rye, and barley. The major predisposing genes are the histocompatibility leukocyte antigen (HLA)-DQ2 and DQ8 genotypes found in at least 95% of patients. Celiac disease is one of the most common lifelong disorders on a worldwide basis affecting 0.5-1% of the general population in the USA and other developed countries. The development of celiac enteropathy is paralleled by the appearance of serum antibodies, especially the IgA class antitissue transglutaminase (antitTG), antiendomysial antibody (EMA) and antigliadin antibodies (AGA), and eventually clinical manifestations. The clinical spectrum of celiac disease is wide including cases with either typical intestinal features (chronic diarrhea, weight loss, etc.) or 'atypical' extraintestinal features (anemia, osteoporosis, neurological disturbances, etc.), and silent forms that are occasionally discovered because of serological screening. Celiac disease prevalence is increased in at-risk conditions such as family history of celiac disease, autoimmune diseases, especially type 1 diabetes (T1D) and thyroiditis, IgA deficiency, and some genetic syndromes (Down, Turner, and William syndromes). Due to atypical features, many celiac disease cases currently escape diagnosis and are exposed to the risk of long-term complications, for example infertility and lymphoma. Celiac disease is a permanent condition that requires treatment by the complete exclusion of gluten-containing products from the diet. In Western countries, gluten-containing food makes a substantial contribution to daily energy intake and is enjoyable to eat. The changes needed to begin and maintain a gluten-free diet (GFD) are not trivial and have a major impact on the quality of daily life.[1,2]

During these last years, there has been a growing interest on the different aspects of celiac disease. In this paper, we will briefly review some of the major advances on the epidemiology, genetics, and treatment of this common disorder.


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