Symptom patterns before and after indolent systemic mastocytosis: A matched cohort analysis

Area of Science:

• Hematology
• Oncology
• Dermatology

Background:

• Systemic mastocytosis (SM) is a clonal mast cell disorder, frequently driven by the KIT D816V mutation.
• The patient experience and symptom evolution surrounding SM diagnosis are not well understood.

Purpose of the Study:

• To longitudinally characterize the real-world patient journey in the year preceding and following SM diagnosis.
• To identify key symptoms and comorbidities associated with SM.

Main Methods:

• Retrospective, observational study of confirmed SM patients within a large health system.
• Analysis of physician-coded diagnoses, medication dispensing, and patient-reported symptoms.
• Comparison with matched cohorts of chronic spontaneous urticaria (CSU) and non-SM/CSU patients.

Main Results:

• SM patients exhibited higher rates of cardiovascular disease, hepatosplenomegaly, osteoporosis, anemia, thrombocytopenia, eosinophilia, and elevated serum tryptase compared to controls.
• Gastrointestinal and neuropsychiatric symptoms were more prevalent in SM, often persisting post-diagnosis.
• Advanced SM showed more severe hematologic and GI issues, while non-advanced SM had more cutaneous and neuropsychiatric symptoms.

Conclusions:

• SM presents with heterogeneous, nonspecific symptoms that can cause diagnostic delays.
• Improved diagnostic approaches and management strategies are needed to address the full spectrum of SM patient experiences.