Systemic Mastocytosis: Multidisciplinary Approach

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 but 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 frequently to organ infiltration, typical of more aggressive variants. Diagnosis may be challenging, and symptoms can be aspecific and involve several organs. 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 aims to summarize the main manifestations of the disease and describe 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.

Successful Imatinib Treatment for Systemic Mastocytosis Associated With Myelodysplastic/Myeloproliferative Neoplasm: Report of a Case and Literature Review

“…Although its prognosis depends on both the SM variant and the associated disease, SM-AHN is generally considered to be an advanced variant, multilineage-mutated myeloid neoplasia with a fatal outcome. It is also often difficult to accurately relate the B/C findings to SM or associated disease, and thus the correct classification of the SM variant ( 8 ).…”

Personalized Management Strategies in Mast Cell Disorders: ECNM-AIM User’s Guide for Daily Clinical Practice

“…[72][73][74][75][76][77][78][79] In patients with SM suffering from bee or wasp venom allergy, life-long immunotherapy is recommended. 31,33,74,80 In severe, treatment-resistant cases, combinations of the aforementioned drugs and approaches may be required. [81][82][83][84] In these patients, a high burden of MCs may sometimes be documented.…”

“…[18][19][20][21][22][23][24][25][26][27][28][29] A critical point is that in a number of patients, 2 or even 3 MC-involving pathologies may be detected, which potentially act together to initiate or aggravate symptoms in these patients. [30][31][32][33] In this article, we include an overview of new diagnostic markers and therapeutic concepts in MC disorders, with special emphasis on multidisciplinary aspects and challenges. In addition, we provide a user's guide for application of biomarkers, diagnostic algorithms, and disease management strategies in routine medical practice.…”

Recent Developments in the Field of Mast Cell Disorders: Classification, Prognostication, and Management

“…An emerging concept in the prognostication and management of patients with various MC disorders is that several different predisposing conditions and comorbidities may be detected in the same patient and that these conditions and pathologies may act in concert to trigger disease evolution and manifestations. [21][22][23][24][25] For example, a patient with SM may also suffer from an IgEdependent allergy with extensive MC activation, and both conditions then contribute to the severity of mediator-related symptoms. In other patients with SM, severe osteoporosis or an associated hematologic neoplasm (AHN) may develop.…”

“…Therefore, proper diagnosis, accurate prognostication, and optimal management require a multidisciplinary approach following the principles of personalized medicine. [21][22][23][24][25] Indeed, in most patients with SM, multiple organ systems are involved and several different mechanisms and comorbidities may contribute to MC expansion and activation. In MCADs including MCASs, the most important comorbidities are allergic disorders.…”