Recognizing Systemic Mastocytosis: Closing the Diagnostic Gap

Welcome back to another Pharmacy Times Practice Pearls series. In this episode titled, "Recognizing Systemic Mastocytosis: Closing the Diagnostic Gap," Anthony Perissinotti led the conversation about the following questions:

Systemic mastocytosis (SM) has historically been underrecognized. Let's start by grounding everyone in the disease landscape — what's driving increased recognition of this disease in clinical practice today?

What factors have historically contributed to the underdiagnosis of systemic mastocytosis, and what has changed in recent years to improve identification?

Perissinotti, Lewis-Gonzalez, and Smith highlighted that SM has long been underdiagnosed due to a lack of sensitive assays capable of detecting the disease's associated mutations, often leading to patients being misdiagnosed with conditions such as severe allergies or gastrointestinal disorders. The panelists noted that growing community education has driven increased provider awareness, referrals, and diagnostic workups, while an expanding array of treatment options has further fueled clinical interest in identifying these patients. They also pointed to the World Health Organization (WHO) and International Consensus Classification (ICC) criteria as key frameworks that have helped standardize diagnosis of this highly heterogeneous disease.

Throughout the conversation, the experts provided a comprehensive reflection on the field and the factors that may shape how clinicians approach care moving forward.

In the next episode, "The KIT D816V Mutation: Unlocking the Biology of Systemic Mastocytosis," panelists continue their discussion on systemic mastocytosis and highlight how the KIT D816V mutation drives disease pathology, the distinction between indolent and advanced disease, and the pharmacist's role in identifying C-findings.