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Review
. 2021 Nov 1;13(1):e2021068.
doi: 10.4084/MJHID.2021.068. eCollection 2021.

Systemic Mastocytosis: Multidisciplinary Approach

Roberta Zanotti  1   2 , Ilaria Tanasi  1   2 , Lara Crosera  1 , Massimiliano Bonifacio  1   2 , Donatella Schena  2   3 , Giovanni Orsolini  2   4 , Francesca Mastropaolo  2   4 , Morena Tebaldi  2   5 , Elisa Olivieri  2   6 , Patrizia Bonadonna  2   6
Affiliations
Review

Systemic Mastocytosis: Multidisciplinary Approach

Roberta Zanotti et al. Mediterr J Hematol Infect Dis. .

Abstract

Systemic mastocytosis (SM) is a heterogeneous group of diseases that affect almost exclusively adults and are defined by the proliferation and accumulation of clonal mast cells (MC) in various tissues. Disease subtypes range from indolent to rare aggressive forms. Although SM is classified as a rare disease, it is believed to be likely underdiagnosed. Major signs and symptoms mainly depend on MC activation and less frequent organ infiltration, typical of more aggressive variants. Diagnosis may be challenging, and symptoms can be aspecific and involve several organs. Therefore, it is advisable to refer patients to specialized centers, having sufficient knowledge of the disease, sensitive diagnostic procedures, offering a personalized and multidisciplinary diagnostic approach, including at least hematological, allergological, dermatological, and rheumatological evaluations. A precise and timely diagnosis is required for: a) adequate counseling of patients and their physicians; b) beginning of symptomatic treatment (anti-mediator therapy); c) prevention of severe manifestations of the disease (i.e., recurrent anaphylaxis, osteoporosis, and bone fractures); d) cytoreductive treatment of advanced SM variants. This review summarizes the disease's main manifestations and describes the ideal diagnostic approach for adult patients with suspected SM, giving physicians the main notions for correct patient diagnosis and management. This review also highlights the importance of a multidisciplinary approach in this very complex disease.

Keywords: Anaphilaxis; Cytoreductive therapy; Mastocytosis; Multidisciplinary approach; Osteoporosis.

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Conflict of interest statement

Competing interests: The authors declare no conflict of Interest.

Figures

Figure 1
Figure 1
Bone marrow histology of two patients with D816V KIT-mutated ISM. Case 1 (upper panel) shows an aggregate of more than 15 mast cells, i.e. the major diagnostic criterion (A: H&E; B: CD117 staining, C: CD25 staining). Case 2 (lower panel) shows isolated spindle-shaped paratrabecular atypical mast cells (A: H&E; B: tryptase staining, C: CD25 staining). (courtesy of dr Alice Parisi).
Figure 1
Figure 1
Maculopapular cutaneous mastocytosis (or Urticaria Pigmentosa) (courtesy of dr Donatella Schena).
See this image and copyright information in PMC

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