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Systemic Mastocytosis: Multidisciplinary Approach.

Roberta Zanotti1,2, Ilaria Tanasi1,2, Lara Crosera1

  • 1Hematology Unit, Department of Medicine, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.

Mediterranean Journal of Hematology and Infectious Diseases
|November 22, 2021
PubMed
Summary

Systemic mastocytosis (SM) is a rare, underdiagnosed adult disease involving clonal mast cell (MC) proliferation. Early, multidisciplinary diagnosis is crucial for patient counseling, symptomatic treatment, and preventing severe complications.

Keywords:
AnaphilaxisCytoreductive therapyMastocytosisMultidisciplinary approachOsteoporosis

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Area of Science:

  • Hematology
  • Immunology
  • Rare Diseases

Background:

  • Systemic mastocytosis (SM) is a rare clonal mast cell (MC) disorder affecting adults.
  • Disease presentation is heterogeneous, ranging from indolent to aggressive forms, often underdiagnosed due to nonspecific symptoms.
  • Symptoms stem from MC activation and organ infiltration, necessitating specialized diagnostic approaches.

Purpose of the Study:

  • To review the main manifestations of systemic mastocytosis in adults.
  • To describe an optimal diagnostic pathway for suspected SM.
  • To emphasize the importance of a multidisciplinary approach for accurate diagnosis and management.

Main Methods:

  • Literature review summarizing SM manifestations and diagnostic strategies.
  • Emphasis on a multidisciplinary diagnostic approach involving hematology, allergy, dermatology, and rheumatology.
  • Highlighting the need for specialized centers with expertise in SM.

Main Results:

  • SM diagnosis can be challenging due to nonspecific and varied symptoms.
  • A timely and precise diagnosis is essential for patient counseling and treatment.
  • Multidisciplinary evaluation is key for comprehensive patient care and management.

Conclusions:

  • Accurate diagnosis of SM requires a personalized, multidisciplinary approach.
  • Early diagnosis facilitates symptomatic and potentially cytoreductive treatment.
  • Referral to specialized centers improves diagnostic accuracy and patient outcomes.