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Celiac Disease

Updates on Pathology and Differential Diagnosis

Dai, Yinghuan MD, PhD*; Zhang, Qin MD; Olofson, Andrea M. MD; Jhala, Nirag MD§; Liu, Xiuli MD, PhD

doi: 10.1097/PAP.0000000000000242
Review Articles

Celiac disease is a gluten-triggered immune-mediated disorder, characterized by inflammation of the enteric mucosa following lymphocytic infiltration and eventually resulting in villous blunting. There have been many developments in refining diagnostic laboratory tests for celiac disease in the last decade. Biopsy-sparing diagnostic guidelines have been proposed and validated in a few recent prospective studies. However, despite these developments, histologic evaluation of duodenal mucosa remains one of the most essential diagnostic tools as it helps in the diagnosis of celiac disease in individuals who do not fulfill the biopsy-sparing diagnostic criteria and in those not responding to a gluten-free diet. Histologic evaluation also allows for the assessment of mucosal recovery after treatment and in the identification of concurrent intestinal diseases. Therefore, pathologists should be familiar with the histologic spectrum of celiac disease and need to be aware of other disorders with similar symptoms and histopathology that may mimic celiac disease. This review aims to provide pathologists with updates on celiac laboratory testing, biopsy-sparing diagnostic criteria, histopathology, complications, and differential diagnoses of celiac disease.

*Department of Pathology, Second Xiangya Hospital of Central South University, Changsha

Department of Pathology, the Third Central Hospital of Tianjin, Tianjin, China

Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL

§Department of Pathology and Laboratory Medicine, Lewis Katz School of Medicine at Temple University, Philadelphia, PA

Y.H. and Q.Z. contributed equally.

The authors have no funding or conflicts of interest to disclose.

All figures can be viewed online in color at

Reprints: Xiuli Liu, MD, PhD, Department of Pathology, Laboratory Medicine, and Immunology, University of Florida, P.O. Box 100275, Gainesville, FL (e-mail:

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