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Patient Story

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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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FIGURE 60-1

Endoscopic findings of scalloping in celiac disease. Note the notching of the mucosal folds (red circle). The mucosal surface also demonstrates a mosaic pattern found in celiac disease. (Used with permission from Jonathan Moses, MD.)

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FIGURE 60-2

Endoscopic findings of nodularity in celiac disease. The duodenal mucosa shows a diffuse, nodular pattern which is an abnormality found in celiac disease. There is also significant erythema of the duodenal mucosa due to the inflammation. (Used with permission from Jonathan Moses, MD.)

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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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FIGURE 60-3

Histological findings in celiac disease. A. Marsh grade I changes with increased intraepithelial lymphocytes and intact villi. B. Marsh III changes with increased intraepithelial lymphocytes, crypt hyperplasia, and villous atrophy. (Used with permission from Thomas Plesec, MD.)

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Introduction

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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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Synonyms

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Celiac Sprue; Gluten Enteropathy; Gluten-sensitive Enteropathy; Nontropical Sprue.

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Epidemiology

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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

    • US—1:100 to 1:200.

    • Europe—1:88 to 1:262.

    • Middle East—1:87 to 1:166.

    • South America—1:67 to 1:681.

    • India—1:100 to 1:310.

  • True incidence likely unknown given wide variation in presentation, as illustrated by the “celiac iceberg” (Figure 60-4).

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FIGURE 60-4

The “celiac iceberg” as an illustration of the various manifestations of celiac disease. The top level represents symptomatic patients with typical mucosal lesions. The middle level represents asymptomatic patients with typical mucosal lesions. The bottom level represents asymptomatic patients with normal mucosa ...

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