Mucosal Inflammation as a Component of Tufting Enteropathy

Abstract

Background & Aims: Tufting enteropathy (TE) or intestinal epithelial cell dysplasia is an autosomal recessive inherited condition that is histologically characterized by intestinal tract mucosal changes including villous atrophy, crypt abnormalities and presence of intestinal epithelial cell ‘tufts’. In our TE cohort from the Maltese islands, an inflammatory component was noted in the initial biopsies. The aim of this study was to determine whether inflammation was a significant feature in the small and large bowel mucosal biopsies in this population. Methods: We retrospectively identified and recruited eight patients, including two sets of siblings, with a diagnosis of TE, made during the period 1985-2012 in the Maltese islands and confirmed by negative epithelial cell adhesion molecule (EpCAM) immunohistochemical staining. Clinical, nutritional, endoscopic and histological data were collected from the patient’s medical notes and compared with clinical outcomes. Serial biopsies were taken from infancy and throughout childhood and adulthood as part of routine patient care to monitor disease progression. Results: All eight patients demonstrated a significant chronic inflammatory component in the lamina propria of both their small and large intestine, comprising increased density of plasma cells, eosinophils and lymphocytes. The median follow-up period was 18 years. These inflammatory infiltrates spontaneously resolved completely after a median of 13 years and 15 years respectively. Conclusion: An inflammatory component in both the small and large bowel of the Maltese TE cohort was a significant histological component and thus diagnosis of TE should not be limited to cases with absence of inflammation. Immunogastroenterology 2013; 2:62-67