Diagnosing Systemic Mastocytosis: Testing, Criteria, and Coordinated Care

This episode, titled "Diagnosing Systemic Mastocytosis: Testing, Criteria, and Coordinated Care," featured panelists discussing the following critical questions:

What is in the differential diagnosis for systemic mastocytosis and how is it definitively diagnosed?

What are the different types of KIT tests that are out there and what are their respective roles?

What are the WHO criteria and the role/variability of serum tryptase levels?

What is your experience in utilizing tryptase levels in clinical practice?

Which specialties are involved in the management of patients with systemic mastocytosis and how can pharmacists optimize multidisciplinary care with them?

How can care pathways be optimized from community to academic sites and vice versa?

Led by the moderator, the expert pharmacists examined the broad differential diagnosis for systemic mastocytosis (SM), including non-clonal mast cell activation syndrome, neuroendocrine tumors, myeloid neoplasms, and cutaneous mastocytosis, alongside the evolving landscape of KIT D816V mutation testing — from allele-specific PCR and digital droplet PCR to next-generation and Sanger sequencing — each with distinct sensitivity trade-offs. They reviewed the World Health Organization (WHO) diagnostic criteria, which require one major and one minor criterion, or three minor criteria, including bone marrow mast cell aggregates, aberrant surface markers, and a persistent serum tryptase level above 20 ng/mL, and discussed how baseline versus acute tryptase measurements are used to monitor disease and treatment response. The panelists also highlighted the multidisciplinary nature of SM care, spanning allergy/immunology, dermatology, gastroenterology, anesthesia, and behavioral health, with pharmacists serving as the central coordinating link across community and academic care settings.

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, "Treating Systemic Mastocytosis: From Antihistamines to Targeted Therapy," panelists continue their discussion on systemic mastocytosis and highlight the stepwise symptomatic management approach — from antihistamines and cromolyn sodium to leukotriene receptor antagonists — along with when to escalate to tyrosine kinase inhibitor therapy and the pharmacist's role in monitoring and optimizing care.