[Mastocytosis : Clinical aspects, diagnostics, therapy].

Area of Science:

• Hematology
• Oncology
• Genetics

Background:

• Mastocytosis is a rare disorder involving clonal proliferation of mast cells.
• It presents a heterogeneous spectrum, from indolent skin lesions to aggressive systemic disease.
• Adults often exhibit specific mutations and bone marrow involvement, unlike children with predominantly cutaneous forms.

Purpose of the Study:

• To describe the diverse clinical manifestations and characteristics of mastocytosis.
• To highlight the differences in presentation between pediatric and adult patients.
• To outline the current therapeutic approaches for mastocytosis.

Main Methods:

• Review of existing literature on mastocytosis.
• Analysis of clinical presentation, genetic mutations, and treatment outcomes.
• Characterization of disease spectrum and patient risk factors.

Main Results:

• Mastocytosis involves an increase in clonal mast cells, with varied disease severity.
• Adults frequently present with specific c-Kit mutations (D816V) and bone marrow involvement.
• Common symptoms include pruritus, diarrhea, abdominal cramps, palpitations, flush, and osteoporosis; severe anaphylaxis is a significant risk.

Conclusions:

• Mastocytosis is a complex disease with a broad clinical spectrum and significant patient impact.
• Understanding the distinct features in adults and children is crucial for diagnosis and management.
• Symptomatic treatment is standard, with cytoreductive therapies reserved for aggressive or refractory disease.