Histologic alterations are common in Monogenic Disease patients with ‘healthy’ endoscopy: Results from a GIPAD-GIPPI multicenter study

IF 2.7 2区医学 Q2 PATHOLOGY

Human pathology Pub Date : 2025-03-01 DOI:10.1016/j.humpath.2025.105763

Jacopo Ferro , Paola Francalanci , Valentina Angerilli , Barbara Cafferata , Maria D'Armiento , Anna Maria Buccoliero , Raduan Ahmed Franca , Alessandro Vanoli , Maria Cristina Macciomei , Luisa Santoro , Rita Alaggio , Matteo Fassan , Luca Mastracci , Diana Sacchi , Carla Giordano , Emanuela Pilozzi , Maria Cristina Giustiniani , Iacopo Panarese , Federica Grillo , Paola Parente

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引用次数: 0

Abstract

Objective

Very early-onset inflammatory bowel disease (VEO-IBD) is a clinical umbrella term referring to IBD-like symptoms arising in children before 6 years of age, encompassing ‘pure’ IBD (Crohn's Colitis/Ulcerative Colitis)/non IBD colitis, and monogenic diseases (MDs), the latter often related to primary immunodeficiency disorders. A multidisciplinary approach is imperative for correct therapeutic management, as endoscopy and histology are not always completely informative. In this setting, the study aims to describe the extent/features of histologic lesions in both endoscopically damaged mucosa and otherwise endoscopically healthy (normal/near normal) mucosa.

Methods

Endoscopic data were retrospectively recorded, and histologic slides were collegially re-evaluated in a 93 VEO-IBD multicenter cohort, 76 (76/93 - 81,7 %) of which with complete endoscopic/histologic data.

Results

At endoscopy, lesions were reported by the clinician in 66/76 (86,8 %) cases. When endoscopic lesions were reported, histologic damage was also seen. Interestingly, histologic mucosal damage was also documented in 43,3 % (13/30) of cases with endoscopically healthy/nearly healthy mucosa. This misalignment between endoscopy and pathology was seen in about a third of (29,1 % - 7/24) ‘true’ IBD and all MDs (100 % - 6/6) (p = 0.0029).

Conclusion

In VEO-IBD, histologic lesions can be present in endoscopically ‘healthy’ intestinal mucosa. This finding is more frequent in MDs, suggesting the need to accurately sample all the mucosal tract in VEO-IBD patients, even when no endoscopic lesions are seen at endoscopy.

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来源期刊

Human pathology 医学-病理学

CiteScore

5.30

自引率

6.10%

发文量

206

审稿时长

21 days

期刊介绍： Human Pathology is designed to bring information of clinicopathologic significance to human disease to the laboratory and clinical physician. It presents information drawn from morphologic and clinical laboratory studies with direct relevance to the understanding of human diseases. Papers published concern morphologic and clinicopathologic observations, reviews of diseases, analyses of problems in pathology, significant collections of case material and advances in concepts or techniques of value in the analysis and diagnosis of disease. Theoretical and experimental pathology and molecular biology pertinent to human disease are included. This critical journal is well illustrated with exceptional reproductions of photomicrographs and microscopic anatomy.