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Celiac disease, also known as gluten-sensitive enteropathy (as well as two older and less preferred terms, nontropical sprue and celiac sprue) is a multisystem disorder estimated to affect approximately 1% of Americans (1). It results from an inappropriate T-cell–mediated immune response to ingested gluten that causes inflammatory injury to the small intestine in genetically predisposed persons. Damage to the proximal small intestinal mucosa results in the malabsorption of nutrients. The average age of diagnosis is in the fifth decade of life but only an estimated 10% to 15% of persons with celiac disease in the United States have been diagnosed (2). The prevalence of celiac disease in the United States seems to have increased 4- to 5-fold over the past 3 to 4 decades (3). Disease manifestations are protean, and gastrointestinal symptoms are not always present. Virtually every body system can be affected, with dermatologic, hematologic, neurologic, musculoskeletal, endocrine, reproductive, and digestive systems most commonly involved. Moreover, celiac disease is associated with a variety of autoimmune conditions whose clinical course may be affected by the diagnosis and treatment of celiac disease. Although patients respond well to treatment with a gluten-free diet, unrecognized or untreated celiac disease is associated with both increased mortality (3, 4) and risk for intestinal lymphoma (5).
Dermatitis herpetiformis. This disorder is an intensely pruritic papulovesicular rash affecting extensor surfaces, such as the shoulders (top), elbows, knees, back, and buttocks (bottom). Although all patients with dermatitis herpetiformis have the intestinal lesions of celiac disease, few have gastro-intestinal symptoms. Immunofluorescent detection of IgA deposits at the dermal–epidermal junction in a perilesional biopsy of a fresh skin lesion is sufficient for diagnosis and precludes the need for intestinal biopsies.
Endoscopic appearance of celiac disease. Such features include scalloping or notching of the folds, as shown. Fissuring or cracking of the flat intervening mucosa between the folds can also be seen. These endoscopic features are helpful for targeting biopsy sites, but their absence does not rule out the diagnosis; as such, intestinal biopsies should be obtained during upper endoscopy for evaluation of potential celiac disease.
Histologic appearance of celiac disease. Characteristic features of the intestinal mucosa in celiac disease include inflammation and varying degrees of villous atrophy. Inflammation comprises lymphocytes, plasma cells, macrophages, and other chronic inflammatory cells in the lamina propria. It also includes intraepithelial lymphocytes, which are more prominent toward the tips of the villi. The biopsy depicted here shows partial villous atrophy with characteristic inflammatory changes.
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