Often seen, rarely recognized: mast cell activation disease--a guide to diagnosis and therapeutic options.

The article outlines the concept of mast cell activation disease (MCAD), which encompasses both mastocytosis and the more prevalent mast cell activation syndrome (MCAS). MCAS is characterized by inappropriate activation of mast cells leading to chronic multisystem symptoms, often with inflammatory or allergic characteristics, but without the significant proliferation seen in mastocytosis. The article emphasizes the need for increased awareness and recognition of MCAS due to its likely underdiagnosis and substantial prevalence. The authors discuss the complex clinical presentation, potential genetic underpinnings, and current approaches to diagnosing and managing MCAD, with a specialized focus on MCAS. They call for a more expansive understanding among clinicians to identify and treat this syndrome effectively.