The first study in Europe to assess the perceived burden of systemic mastocytosis (SM) from both the patient and healthcare provider (HCP) point of view brings attention to SM’s negative impact on quality of life, particularly its high symptom burden.
The survey, titled Perceptions, Realities and Insights on Systemic Mastocytosis (PRISM), is the largest international study to date that assesses the impact of SM through patient-reported experiences and HCP perspectives. Findings from the study were recently published in Clinical & Experimental Allergy.
The study included 540 patients and 618 HCPs from seven European countries who completed surveys designed by a team of patients and experts in SM. The goal of the research was to understand difficulties along the path from diagnosis to treatment, as well as impacts on quality of life.
Overall, patients reported difficulty obtaining a diagnosis. Results showed that 52% of respondents were diagnosed at least one year after their symptoms began, with participants having to visit an average of four HCPs before receiving their diagnosis.
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These findings are consistent with the responses of HCPs, who reported an average perceived time from symptom onset to diagnosis of 15.5 months. Hematologists and oncologists most often diagnosed SM, followed by allergists and dermatologists.
Notably, more than half of the HCPs did not know whether their patients were tested for KIT gene mutations. “These results highlight the need for more HCP education on the importance of KIT testing for patients with SM and the diagnostic tools available,” the authors said.
What is a KIT gene mutation?
SM is usually caused by a sporadic mutation in the KIT gene, which codes for a protein called CD117 transmembrane tyrosine kinase. The protein is involved in the growth, survival and migration of mast cells. The most common KIT mutation associated with SM is the D816V mutation, which results in the amino acid aspartic acid being replaced by the amino acid valine in the protein chain.
Patients with indolent SM, the most common and least severe subtype, reported an average total symptom score of 40.5 out of 110, while patients with advanced SM reported an average score of 58.7. Scores of at least 28 are indicative of moderate disease, while scores of at least 42 suggest severe disease. Skin-related symptoms, gastrointestinal symptoms and anaphylaxis were reported as the most distressing symptoms.
Participants with indolent SM took an average of eight different medications, while those with advanced SM took an average of 15 medications to manage their symptoms. In spite of this, 43% of respondents with indolent SM and 82% of those with advanced SM said that their disease affected their ability to work.
Similarly, HCPs reported that patients’ lives were impacted significantly by SM. The most important goals among HCPs included improving quality of life (23%) and survival (29%).
“The PRISM data highlight the need for greater disease awareness, the importance of a multidisciplinary approach to diagnosis, including new diagnostic tools, management of SM and novel improved therapies,” the study concluded.
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