Abstract

Celiac disease is a syndrome characterized by damage of the small intestinal mucosa caused by the gluten fraction of wheat proteins and similar alcohol-soluble proteins (prolamines) of barley and rye in genetically susceptible subjects. The presence of gluten in these subjects leads to a self- perpetuating mucosal damage, and the elimination of gluten results in full mucosal recovery. The clinical manifestations of celiac disease are protean in nature and vary markedly with the age of the patient, the duration and extent of disease, and the presence of extraintestinal pathologic changes. In addition to the classic gastrointestinal form, a variety of other clinical manifestations of the disease have been described, including atypical and asymptomatic forms. Although the typical form of celiac disease, characterized by failure to thrive, is still the most frequent presentation in the pediatric age group, severe growth delay is less commonly seen in developed countries. Recent epidemiologic studies suggest that celiac disease-associated growth retardation is becoming a tangible health problem in developing countries, where the problem has been historically overlooked. Given the protean nature of the clinical presentation of celiac disease, the diagnosis is extremely challenging and relies on a sensitive and specific algorithm that allows the identification of different manifestations of the disease. Serologic tests developed in the past decade provide a noninvasive tool for screening individuals at risk for the disease as well as the general population. The current gold standard for the diagnosis of celiac disease remains histologic confirmation of the intestinal damage in serologically positive individuals. The keystone treatment of celiac disease patients is a lifelong elimination diet in which food products containing gluten are avoided.

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