Clinical challenge for gastroenterologists-Gastrointestinal manifestations of systemic mastocytosis: A comprehensive review. 2022

Alessandra Elvevi, and Elena Maria Elli, and Martina Lucà, and Miki Scaravaglio, and Fabio Pagni, and Stefano Ceola, and Laura Ratti, and Pietro Invernizzi, and Sara Massironi
Gastroenterology Division, San Gerardo Hospital, University of Milano - Bicocca School of Medicine, Monza 20900, Italy.

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.

UI MeSH Term Description Entries
D008407 Mast Cells Granulated cells that are found in almost all tissues, most abundantly in the skin and the gastrointestinal tract. Like the BASOPHILS, mast cells contain large amounts of HISTAMINE and HEPARIN. Unlike basophils, mast cells normally remain in the tissues and do not circulate in the blood. Mast cells, derived from the bone marrow stem cells, are regulated by the STEM CELL FACTOR. Basophils, Tissue,Basophil, Tissue,Cell, Mast,Cells, Mast,Mast Cell,Tissue Basophil,Tissue Basophils
D008415 Mastocytosis A rare neoplastic disorder characterized by a clonal proliferation of MAST CELLS, associated with KIT-D816 mutations, and accompanied by aberrant mast cell activation. The abnormal increase of MAST CELLS may occur in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA).
D011788 Quality of Life A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral, social environment as well as health and disease. HRQOL,Health-Related Quality Of Life,Life Quality,Health Related Quality Of Life
D005767 Gastrointestinal Diseases Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Cholera Infantum,Gastrointestinal Disorders,Functional Gastrointestinal Disorders,Gastrointestinal Disorders, Functional,Disease, Gastrointestinal,Diseases, Gastrointestinal,Functional Gastrointestinal Disorder,Gastrointestinal Disease,Gastrointestinal Disorder,Gastrointestinal Disorder, Functional
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000072102 Gastroenterologists Physicians who specialize in treating diseases of the DIGESTIVE SYSTEM. Hepatologists,Gastroenterologist,Hepatologist
D034721 Mastocytosis, Systemic A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis. Systemic Mast-Cell Disease,Aggressive Systemic Mastocytosis,Indolent Systemic Mastocytosis,Aggressive Systemic Mastocytoses,Indolent Systemic Mastocytoses,Mast-Cell Disease, Systemic,Mast-Cell Diseases, Systemic,Mastocytoses, Aggressive Systemic,Mastocytoses, Indolent Systemic,Mastocytoses, Systemic,Mastocytosis, Aggressive Systemic,Mastocytosis, Indolent Systemic,Systemic Mast Cell Disease,Systemic Mast-Cell Diseases,Systemic Mastocytoses,Systemic Mastocytoses, Aggressive,Systemic Mastocytoses, Indolent,Systemic Mastocytosis,Systemic Mastocytosis, Aggressive,Systemic Mastocytosis, Indolent

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