Division of Hematology, University Hospital Basel, 4031, Basel, Switzerland.
University Medical Library, University of Basel, 4051, Basel, Switzerland.
Orphanet J Rare Dis. 2020 Sep 17;15(1):249. doi: 10.1186/s13023-020-01532-3.
The introduction of new therapy modalities has significantly improved the outcome of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients. However, relatively little is known about the exact disease burden of AA/PNH since standardized assessments of symptoms including health-related quality of life (HRQoL) are frequently missing or inadequately designed for this rare patient group. We aimed to develop AA/PNH-specific questionnaires for self-reporting of symptoms, which could be included in electronic platforms for data collection and patient care.
By scoping review, we extracted any reported symptoms in AA/PNH and their prevalence from the literature (Phase I). Consensus rounds with patients and medical experts were conducted to identify core symptoms reported in the literature and to add missing items (Phase II). Ultimately, AA/PNH-specific patient-reported outcome (PRO) questionnaires including the selected measures were designed (Phase III).
AA symptoms from 62 and PNH symptoms from 45 observational studies were extracted from the literature. Twenty-four patients and seven medical experts identified 11 core symptoms including HRQoL issues after three consensus rounds. Significant differences in the symptom ranking of patients versus medical experts could be observed. Therefore, patient- as well as expert-centered PRO questionnaires in AA and PNH were created following the concepts of validated instruments.
The development of symptom self-reporting questionnaires for AA and PNH was feasible and the disease-specific PRO questionnaires can now be validated within a web-based workflow in a subsequent feasibility study.
新治疗方法的引入显著改善了再生障碍性贫血(AA)和阵发性睡眠性血红蛋白尿症(PNH)患者的预后。然而,由于缺乏标准化的症状评估,包括健康相关生活质量(HRQoL)评估,对于 AA/PNH 患者的确切疾病负担了解甚少,而这些评估对于这一罕见患者群体是非常重要的。我们旨在开发用于报告症状的 AA/PNH 特异性问卷,以便将其纳入电子平台进行数据收集和患者护理。
通过范围综述,我们从文献中提取了 AA/PNH 中报告的任何症状及其患病率(第 I 阶段)。通过与患者和医学专家进行共识会议,确定了文献中报告的核心症状,并补充了缺失的项目(第 II 阶段)。最终,设计了包括选定措施的 AA/PNH 特异性患者报告结局(PRO)问卷(第 III 阶段)。
从 62 项 AA 观察性研究和 45 项 PNH 观察性研究的文献中提取了 AA 症状和 PNH 症状。经过三轮共识会议,24 名患者和 7 名医学专家确定了 11 个核心症状,包括 HRQoL 问题。可以观察到患者和医学专家对症状的排名存在显著差异。因此,根据经过验证的工具的概念,为 AA 和 PNH 创建了患者和专家为中心的 PRO 问卷。
开发 AA 和 PNH 的症状自我报告问卷是可行的,并且可以在随后的可行性研究中在基于网络的工作流程中验证这些疾病特异性的 PRO 问卷。