Open AccessPediatric autoimmune disorders with gastrointestinal expressions: from bench to bedside
Author(s) -
Paola Francalanci,
Barbara Cafferata,
Rita Alaggio,
Paola De Angelis,
Antonella Diamanti,
Paola Parente,
Massimo Granai,
Stefano Lazzi
Publication year - 2022
Publication title -
pathologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.243
H-Index - 18
eISSN - 1591-951X
pISSN - 0031-2983
DOI - 10.32074/1591-951x-339
Subject(s) - lamina propria , intraepithelial lymphocyte , enteropathy , medicine , pathology , malabsorption , autoimmunity , gastrointestinal tract , hyperplasia , villous atrophy , immunology , immune system , gastroenterology , disease , coeliac disease , epithelium
The gastrointestinal (GI) tract may be involved in systemic autoimmune diseases or may be the target of organ-specific autoimmunity. Autoimmune enteropathy (AIE) is a rare disorder characterized by severe and protracted diarrhea, weight loss from malabsorption and immune-mediated damage to the intestinal mucosa, generally occurring in infants and young children, only rarely in adult. The salient histopathologic features of AIE are most prominent in the small intestine: villous blunting, crypt hyperplasia, mononuclear cell inflammatory expansion of the lamina propria with intraepithelial lymphocytosis, crypt apoptosis and absence of Paneth cells, goblet cells or both. Esophagus, stomach and colon are frequently also involved. Anti-enterocyte antibodies are identified in the majority of cases, and their presence, even if variable, can help confirming the diagnosis.