Triggiani Massimo, Hobart Jessica, Alvarez-Twose Iván, Livideanu Cristina Bulai, Ruëff Franziska, Barete Stéphane, Bonadonna Patrizia, Bouillet Laurence, Butt Nauman M, Drummond Mark, Guilarte Mar, Hartmann Karin, Beaux Amélie, Finnerty Celeste C, Hegmann Nicole, Marcis Patrizia, Ribada Eugenia, Schinhofen Waltraud, Coletti Gabriela, Dugdale Andrew, Perez Cristian, Powell Dakota, Green Teresa, Sullivan Erin, Radia Deepti H, Mesa Ruben
Division of Allergy and Clinical Immunology, University of Salerno, Salerno, Italy.
The UK Mastocytosis Support Group, London, UK.
Clin Exp Allergy. 2025 Jun 27. doi: 10.1111/cea.70101.
Systemic mastocytosis (SM) is a clonal mast cell disease primarily driven by the KIT D816V mutation and often characterised by unpredictable and debilitating symptoms. The Perceptions Realities and Insights on Systemic Mastocytosis (PRISM) survey queried patient and provider perceptions of SM in Europe.
PRISM (funded by Blueprint Medicines Corporation) was composed of two independent surveys: a 119-item patient survey on diagnosis, symptom burden, quality of life (QoL) and work impact; and a 103-item healthcare provider (HCP) survey on approaches to SM diagnosis and management.
Data were evaluated from 540 patient respondents from Italy (n = 136), France (n = 112), the UK (n = 101), Germany (n = 83), Spain (n = 64), Austria (n = 26) and Switzerland (n = 18). Patients reported a high symptom burden and reduced physical functioning and mental health due to SM, despite taking, on average, seven medications. A majority of patients reported that SM impacted their ability to work (58.9%). A total of 618 HCP responses were collected from Italy (n = 203), Germany (n = 123), the UK (n = 110), Austria (n = 63), France (n = 56), Switzerland (n = 44) and Spain (n = 19). Various HCP types reported treating patients with SM; the majority were haematologists/oncologists (n = 167) and general practitioners (n = 178). HCPs perceived that SM impacted their patients' QoL, with 54% reporting SM affected patients' lives 'quite a bit'. The most frequently reported treatment goals were improving QoL and survival.
PRISM is the largest international and first European survey to evaluate the burden of SM from both patient and HCP perspectives. Patients and HCPs perceived a high symptom burden, reduced QoL and reduced ability to work due to SM.
系统性肥大细胞增多症（SM）是一种主要由KIT D816V突变驱动的克隆性肥大细胞疾病，其特征通常是症状难以预测且使人衰弱。系统性肥大细胞增多症的认知、现实与见解（PRISM）调查询问了欧洲患者和医疗服务提供者对SM的看法。
PRISM（由蓝图医药公司资助）由两项独立调查组成：一项针对119个项目的患者调查，内容涉及诊断、症状负担、生活质量（QoL）和工作影响；另一项针对103个项目的医疗服务提供者（HCP）调查，内容涉及SM的诊断和管理方法。
对来自意大利（n = 136）、法国（n = 112）、英国（n = 101）、德国（n = 83）、西班牙（n = 64）、奥地利（n = 26）和瑞士（n = 18）的540名患者受访者的数据进行了评估。患者报告称，尽管平均服用七种药物，但由于SM，症状负担仍然很高，身体功能和心理健康状况下降。大多数患者报告称SM影响了他们的工作能力（58.9%）。共收集到来自意大利（n = 203）、德国（n = 123）、英国（n = 110）、奥地利（n = 63）、法国（n = 56）、瑞士（n = 44）和西班牙（n = 19）的618份HCP回复。不同类型的HCP报告称治疗过SM患者；大多数是血液科医生/肿瘤学家（n = 167）和全科医生（n = 178）。HCP认为SM影响了患者的QoL，54%的人报告称SM对患者生活“有很大影响”。最常报告的治疗目标是改善QoL和提高生存率。
PRISM是最大规模的国际调查，也是首个从患者和HCP角度评估SM负担的欧洲调查。患者和HCP都认为由于SM，症状负担很高，QoL下降，工作能力降低。
