Abstract
This symposium, held on the first day of the 2024 European Academy of Allergy and Clinical Immunology (EAACI) Congress, aimed to broaden clinicians’ understanding of indolent systemic mastocytosis (ISM) diagnosis, the tools available to help assess the disease burden and severity of symptoms, and the use of symptomatic therapies and novel precision medicines.
Speakers described the hallmark symptoms of ISM as typical skin lesions, anaphylaxis and other mast cell-mediator release symptoms, and bone mass loss. Serum tryptase testing and screening for KIT D816V mutation using high-sensitivity PCR assays were considered key elements of ISM diagnosis, though bone marrow study becomes essential for diagnostic confirmation.
A stepwise approach to symptomatic management was recommended, with the caveat that symptomatic treatments are used off-label for ISM. It was noted that polypharmacy is often required to achieve adequate responses, and that novel therapeutics are needed in patients with inadequately controlled disease, highlighting the remaining unmet need.
Speakers stressed that the success of ISM therapy should be measured primarily by symptom improvement, and that validated tools are needed to assess a broad range of patient-reported symptoms and quality of life. Several current and upcoming tools for this purpose were described.
Clinical trial data of several precision medicines for ISM were described. These included avapritinib, recently authorised by the European Medicines Agency (EMA) for use in adults with ISM with moderate-to-severe symptoms inadequately controlled on symptomatic treatment, and investigational medicines bezuclastinib and elenestinib.
The overall message of the symposium was that, in this era of precision medicine, the emergence of novel targeted treatments brings an opportunity to transform the management of ISM.