Celiac disease: clinical, endoscopic, and histopathologic review

Abstract

Celiac disease, also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy, is a chronic immune-mediated disorder that occurs in genetically predisposed populations. Patients affected by the disease may be asymptomatic or manifest classic malabsorption symptoms of abdominal pain, bloating, weight loss, diarrhea, and steatorrhea after gluten ingestion (and related derivatives found in other grains). The astute clinician must be aware of a more subtle GI picture as well as non-GI signs and symptoms (eg, iron-deficiency anemia, abnormal liver function tests, type 1 diabetes mellitus, and gluten ataxia). Diagnosis and screening begin with the use of serologic tests: IgA anti-tissue transglutaminase (tTG), IgA antiendomysial antibodies (EMAs), and serum IgA level. Duodenal biopsy, still considered by many as the criterion necessary for diagnosis, demonstrates the pathologic findings of small intestinal villous atrophy, intraepithelial lymphocytosis, and crypt hyperplasia that occur on exposure to dietary gluten. These changes exhibit improvement after withdrawal of gluten from the diet. Resolution of clinical symptoms after initiation of gluten-free diet is considered to be part of the diagnostic picture. Genetic tests revealing permissive haplotypes may be helpful in confirming the diagnosis as well as identifying susceptible individuals. Celiac disease remains a complex clinicopathologic diagnosis. This review discusses the clinical, endoscopic, and pathologic features of celiac disease, with an emphasis on the importance of clinician and pathologist communication.