Elvevi A, Elli EM, Lucà M, Scaravaglio M, Pagni F, Ceola S, Ratti L, Invernizzi P, Massironi S. Clinical challenge for gastroenterologists–Gastrointestinal manifestations of systemic mastocytosis: A comprehensive review. World J Gastroenterol 2022; 28(29): 3767-3779 [PMID: 36157547 DOI: 10.3748/wjg.v28.i29.3767]
Corresponding Author of This Article
Sara Massironi, MD, PhD, Gastroenterology Division, San Gerardo Hospital, University of Milano – Bicocca School of Medicine, Via G.B. Pergolesi 33, Monza 20900, Italy. sara.massironi@libero.it
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastroenterol. Aug 7, 2022; 28(29): 3767-3779 Published online Aug 7, 2022. doi: 10.3748/wjg.v28.i29.3767
Clinical challenge for gastroenterologists–Gastrointestinal manifestations of systemic mastocytosis: A comprehensive review
Alessandra Elvevi, Elena Maria Elli, Martina Lucà, Miki Scaravaglio, Fabio Pagni, Stefano Ceola, Laura Ratti, Pietro Invernizzi, Sara Massironi
Alessandra Elvevi, Martina Lucà, Miki Scaravaglio, Laura Ratti, Pietro Invernizzi, Sara Massironi, Gastroenterology Division, San Gerardo Hospital, University of Milano – Bicocca School of Medicine, Monza 20900, Italy
Elena Maria Elli, Hematology Division and Bone Marrow Transplant Unit, San Gerardo Hospital, Monza 20900, Italy
Fabio Pagni, Stefano Ceola, Department of Medicine and Surgery, Section of Pathology, San Gerardo Hospital, University of Milano – Bicocca School of Medicine, Monza 20900, Italy
Author contributions: Elvevi A, Elli EM, and Massironi S designed the study; Elvevi A, Elli EM, Lucà M, and Scaravaglio M wrote the first draft of the paper; Pagni F, Ceola S, and Ratti L revised the paper and wrote the final version; Massironi S and Invernizzi P reviewed the paper for important intellectual content; all authors have read and approved the final manuscript.
Conflict-of-interest statement: All authors report no relevant conflict of interest for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Sara Massironi, MD, PhD, Gastroenterology Division, San Gerardo Hospital, University of Milano – Bicocca School of Medicine, Via G.B. Pergolesi 33, Monza 20900, Italy. sara.massironi@libero.it
Received: December 3, 2021 Peer-review started: December 3, 2021 First decision: May 29, 2022 Revised: June 6, 2022 Accepted: July 11, 2022 Article in press: July 11, 2022 Published online: August 7, 2022
Abstract
Mastocytosis is a rare and heterogeneous disease characterized by various clinical and biological features that affect different prognoses and treatments. The disease is usually divided into 2 principal categories: cutaneous and systemic disease (SM). Clinical features can be related to mast cell (MC) mediator release or pathological MC infiltration. SM is a disease often hard to identify, and the diagnosis is based on clinical, biological, histological, and molecular criteria with different specialists involved in the patient’s clinical work-up. Among all manifestations of the disease, gastrointestinal (GI) symptoms are common, being present in 14%-85% of patients, and can significantly impair the quality of life. Here we review the data regarding GI involvement in SM, in terms of clinical presentations, histological and endoscopic features, the pathogenesis of GI symptoms, and their treatment.
Core Tip: Gastrointestinal (GI) involvement is frequent in systemic disease (SM); GI symptoms are frequent (second in frequency only to itching), being the main culprits of chronic disorders, and are a major determinant of quality of life. GI symptoms could be secondary both to mast cell (MC) mediator release and MC infiltration in the GI tract, causing organ dysfunction. Diagnosis of GI involvement in SM is based on clinical and endoscopic suspicion and histologic demonstration of MC infiltration in GI mucosa, using immunohistochemistry (i.e., CD117, tryptase, CD25). Symptomatic treatment is used to control mediators-release symptoms while cytoreductive therapies are necessary to reduce organ dysfunction secondary to MC infiltration and proliferation.
