Journal: Orphanet journal of rare diseases
This publication provides evidence-based, expert-formulated recommendations for managing adult patients with various forms of mastocytosis, including:
- Nonadvanced or indolent cutaneous mastocytosis (CM)
- CM with primary mast cell activation syndrome (MCAS)
- Indolent systemic mastocytosis (SM)
- Bone marrow mastocytosis
- Smoldering mastocytosis
The publication highlights the clinical variability of the disease, which ranges from isolated skin involvement in 15% of adults to systemic involvement in 85%, often accompanied by cutaneous lesions.
Symptoms, driven by mast cell accumulation and activation, can vary widely in severity. They may be life-threatening and significantly impact patient quality of life.
The protocol aims to guide clinicians in addressing the complexity and heterogeneity of these rare disorders.