An Update on Celiac Disease Histopathology and the Road Ahead

Abstract

Context.—Celiac disease (CD) is a common immune-mediated disorder that occurs in genetically predisposed individuals (carriers of HLA-DQ2 and DQ8 haplotypes) on consumption of wheat (gluten). It is characterized by inflammation of the small-intestinal mucosa and myriad gastrointestinal and systemic manifestations. Celiac disease is common in the general population (prevalence, 0.5%–1%). Currently, small-bowel biopsy is considered the gold standard for diagnosing CD. However, the role of serologic testing in the diagnosis of CD has evolved, from being a supportive test to supplanting intestinal biopsies in certain patient populations.Objective.—To summarize key aspects of histopathologic assessment, discuss the benefit of standardized pathology reports, impact of the site and number of small-bowel biopsy samples on diagnosis, and recommendations regarding serologic testing.Data Sources.—Literature review of publications on CD and experience with histopathologic review of biopsies at the Department of Pathology and Cell Biology, Columbia University Medical Center, New York-Presbyterian Hospital, New York.Conclusions.—Intraepithelial lymphocytosis in the context of villous atrophy is considered a characteristic histologic finding of CD; however, it is a rather nonspecific finding. A growing list of publications has also indicated that the detection of intraepithelial lymphocytosis in the absence of villous atrophy has rather low specificity for CD. Therefore, communication between pathologists and gastroenterologists is paramount, as is knowledge regarding the pertinent clinical and laboratory data, in distinguishing between CD and other disorders with similar histopathologic and clinical manifestations.