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A 2-year-old male presents with weight loss. The mother states his pediatrician first noticed impaired growth around 12 months of age. The mother also noticed his abdomen looked more distended over the last few months and he is more irritable than usual. She describes a vague history of looser stools without overt hematochezia. Pediatric gastroenterology was consulted and sent blood work which was remarkable for mild anemia and positive anti-tissue transglutaminase immunoglobulin A antibodies (TTG IgA). The patient underwent an upper endoscopy with biopsies, which was visually remarkable for erythematous duodenal mucosa with scalloping of the intestinal folds (Figures 60-1 and 60-2).
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Histology demonstrated increased intra-epithelial lymphocytes (IEL) with villous blunting, confirming the diagnosis of celiac disease (Figure 60-3). The patient was placed on a gluten free diet and has had improved growth and normalization of laboratory values.
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Celiac disease is an autoimmune disorder related to the ingestion of gluten containing foods in genetically susceptible individuals. If unrecognized and untreated celiac disease can result in gastrointestinal symptoms, growth disturbances, and potential long-term complications.
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Celiac Sprue; Gluten Enteropathy; Gluten-sensitive Enteropathy; Nontropical Sprue.
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Worldwide distribution has been demonstrated despite the incorrect historical view that celiac disease was limited to the Caucasian population.1
Incidence of various countries:2
True incidence likely unknown given wide variation in presentation, as illustrated by the “celiac iceberg” (Figure 60-4).
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