[Systemic mastocytosis]

Area of Science:

• Hematology
• Immunology
• Genetics

Background:

• Mastocytosis is a rare disorder characterized by abnormal mast cell proliferation.
• The underlying pathology and mechanisms of mast cell growth are not fully understood.
• The diverse symptomology necessitates multidisciplinary specialist collaboration.

Purpose of the Study:

• To evaluate the diagnostic and therapeutic strategies employed at the Gdansk Mastocytosis Centre.
• To analyze patient data for insights into mastocytosis management.
• To contribute to the understanding of rare mast cell disorders.

Main Methods:

• Retrospective analysis of 14 mastocytosis patients (9 adults, 5 children).
• Bone marrow biopsy for disease staging, including pathological, cytological, cytofotometry, and C-KIT mutation analysis.
• Diagnostic skin prick tests and serum-specific IgE (sIgE) for food allergy and wasp venom anaphylaxis.

Main Results:

• All patients presented with urticaria pigmentosa and anaphylaxis.
• Indolent mastocytosis was diagnosed in six subjects.
• Treatment with antihistamines, corticosteroids, cromones, and immunotherapy led to significant symptom reduction.

Conclusions:

• Mastocytosis is a rare and diagnostically challenging condition.
• Multidisciplinary assessment and tailored treatment are crucial for managing mastocytosis symptoms.
• The Gdansk Mastocytosis Centre experience demonstrates effective symptom control through various therapeutic modalities.