Efficace Fabio, Krepper Daniela, Sparano Francesco, Fazi Paola, Voso Maria Teresa, Gurnari Carmelo
Italian Group for Adult Hematologic Diseases (GIMEMA), Data Center and Health Outcomes Research Unit, Rome, Italy.
University Hospital of Psychiatry II, Medical University of Innsbruck, Innsbruck, Austria.
EClinicalMedicine. 2025 Jul 12;86:103354. doi: 10.1016/j.eclinm.2025.103354. eCollection 2025 Aug.
VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) is a recently discovered syndrome of autoinflammatory origin affecting mainly older patients with a clinical picture encompassing a variety of hematological and rheumatological conditions. We aimed to gather current knowledge on patient-reported outcomes (PRO) and morbidity burden of VEXAS patients.
A scoping review conducted via PubMed (last updated September 2024) identified studies involving VEXAS patients, excluding studies primarily addressing hematologic adverse events or laboratory parameters, with no lower date restriction. A double-review process was applied from screening to data charting. Outcomes included the prevalence of manifestations of VEXAS-related morbidity burden and their aggregated rates, adhering to the PRISMA-ScR guidelines.
Out of 357 records, 31 studies met the inclusion criteria, analyzing 1437 patients. The median study sample size was 40 patients (IQR 16-59). Most studies (96·8%) were non-interventional and mostly conducted in France (38·7%) and the USA (32·3%). The median age at symptom onset was 67 years (IQR 66-68·6). Myelodysplastic syndrome was the most common concomitant disease, present in 93·6% of studies. No studies documenting PROs were identified. Skin and pulmonary involvement were the most frequently reported manifestations, appearing in 100% and 96·8% of studies, respectively. Moreover, skin lesions had the highest median prevalence (83·6%, IQR 76-90), followed by fever (81·2%, IQR 67·5-89) and general constitutional symptoms (76%, IQR 54·8-85·3). All symptoms identified in this review were clinician-reported.
Our findings may provide preliminary insights into future PRO assessment strategies for VEXAS syndrome. We also advocate for international concerted efforts for a rapid uptake of PRO evidence-based data that can help inform the development of patient-centric therapies for this rare disease.
This work was supported by AIRC5×1000 call "Metastatic disease: the key unmet need in oncology" to MYNERVA project, #21267 Myeloid Neoplasms Research Venture AIRC. Detailed description is available at http://www.progettoagimm.it.
VEXAS（空泡、E1酶、X连锁、自身炎症性、体细胞）是一种最近发现的自身炎症性综合征，主要影响老年患者，临床表现包括多种血液学和风湿病学病症。我们旨在收集有关VEXAS患者的患者报告结局（PRO）和发病负担的现有知识。
通过PubMed（最后更新于2024年9月）进行的范围综述确定了涉及VEXAS患者的研究，排除主要涉及血液学不良事件或实验室参数的研究，无下限日期限制。从筛选到数据图表记录采用双重审查流程。结局包括VEXAS相关发病负担表现的患病率及其汇总率，遵循PRISMA-ScR指南。
在357条记录中，31项研究符合纳入标准，分析了1437例患者。研究样本量中位数为40例患者（四分位间距16 - 59）。大多数研究（96.8%）为非干预性研究，主要在法国（38.7%）和美国（32.3%）进行。症状出现时的年龄中位数为67岁（四分位间距66 - 68.6）。骨髓增生异常综合征是最常见的伴随疾病，在93.6%的研究中存在。未发现记录PROs的研究。皮肤和肺部受累是最常报告的表现，分别出现在100%和96.8%的研究中。此外，皮肤病变的患病率中位数最高（83.6%，四分位间距76 - 90），其次是发热（81.2%，四分位间距67.5 - 89）和全身一般症状（76%，四分位间距54.8 - 85.3）。本综述中确定的所有症状均为临床医生报告。
我们的研究结果可能为VEXAS综合征未来的PRO评估策略提供初步见解。我们还倡导国际间共同努力，迅速采用基于PRO的证据数据，这有助于为这种罕见疾病以患者为中心疗法的开发提供信息。
这项工作得到了AIRC5×1000呼吁“转移性疾病：肿瘤学中关键的未满足需求”对MYNERVA项目的支持，#21267骨髓肿瘤研究风险投资AIRC。详细描述可在http://www.progettoagimm.it获取。
