A Real-World Cross-Sectional Study on Suspected Mast Cell Activation Syndrome: Multiple Heterogeneous Symptoms...

Area of Science:

• Immunology
• Medical research

Background:

• Mast cell activation syndrome (MCAS) presents with various clinical signs and symptoms.
• However, specific symptom patterns and associated organ systems in MCAS have not been well-described.

Purpose of the Study:

• To describe symptom patterns and linked organ systems in patients with suspected mast cell activation syndrome (MCAS).
• To identify distinct patient clusters using machine learning analysis.

Main Methods:

• A cross-sectional online survey collected symptom data from 592 adults with suspected or diagnosed MCAS.
• Symptoms were coded using MedDRA, and analyzed with unsupervised machine learning.
• Patient-reported outcome measures assessed mental health and quality of life.

Main Results:

• Hierarchical clustering did not identify distinct patient clusters.
• 43% of patients met the diagnostic criteria for MCAS.
• Commonly reported symptoms included depression (39%), general anxiety (34%), and impaired quality of life (28%), while skin symptoms were infrequent.

Conclusions:

• Patients with suspected MCAS display highly heterogeneous symptoms.
• Nearly 50% meet the first diagnostic criterion for MCAS.
• Given that over a third tested positive for other diseases, evaluating for common, treatable diagnoses is recommended.