Open AccessVery Early Onset-IBD: evidence for the need of a multidisciplinary approach
Author(s) -
Paola Parente,
Mario Pastore,
Federica Grillo,
Matteo Fassan,
Paola Francalanci,
A. Dirodi,
Chiara Rossi,
Giovanni Arpa,
Paola De Angelis,
Irene Gullo,
Luca Mastracci,
Rita Alaggio,
Alessandro Vanoli
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-336
Subject(s) - medicine , context (archaeology) , inflammatory bowel disease , primary immunodeficiency , pediatrics , disease , intensive care medicine , enterocolitis , differential diagnosis , immunodeficiency , colitis , immunology , pathology , immune system , paleontology , biology
Very early onset inflammatory bowel disease (VEO-IBD) represents approximately 25% of cases of IBD-like colitis occurring during childhood and, by definition, it is characterized by an onset prior to 6 years of age. This subgroup of patients presents significant differences from IBD occurring in older children and in adults, including a more severe clinical course, a reduced responsiveness to conventional IBD therapy, and a greater proportion of cases featuring an underlying monogenic disorder. Histological findings from gastro-intestinal (GI) biopsies are characterized by an IBD-like, apoptotic or enterocolitis-like pattern, complicating the differential diagnosis with other pediatric diseases involving GI tract. Moreover, individuals with monogenic disorders may develop significant comorbidities, such as primary immunodeficiency (PID), impacting treatment options. Without an appropriate diagnosis, the clinical course of VEO-IBD has greater potential for escalated treatment regimens involving extensive surgery, more intensive medical therapies and, even more important, inadequate recognition of underlying monogenic defect that may lead to inappropriate (sometimes fatal) therapy. For these reasons, an adequate context leading to an appropriate diagnosis is imperative, calling for a close collaboration between pediatricians, pathologists, geneticists, and immunologists.