Clinical challenge for gastroenterologists–Gastrointestinal manifestations of systemic mastocytosis: A comprehensive review

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.

Keywords: Systemic mastocytosis; Gastrointestinal involvement; Gastrointestinal symptoms

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.