Sheffield Centre for Health and Related Research (SCHARR), University of Sheffield, Sheffield, England.
Orphanet J Rare Dis. 2024 Jul 4;19(1):252. doi: 10.1186/s13023-024-03256-0.
Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders, consisting of over 70 diseases that are characterised by lysosomal dysfunction. Due to their varied and progressive symptoms, LSDs have a continual impact on patients' health-related quality of life (HRQoL). Several recently published studies have provided insight into the HRQoL of individuals with LSDs. However, it is challenging to meaningfully synthesise this evidence, since studies often focus upon a particular type of LSD and / or utilise different self-report questionnaires or patient-reported outcome measures (PROMs) to assess HRQoL.
The aim of this study was to review the published literature in LSDs, to identify the PROMs which have been used to assess HRQoL and generate a conceptual map of HRQoL domains measured in individuals diagnosed with LSDs.
Three electronic databases were searched in March 2022. Primary studies of any design which utilised multi-item PROMs to assess at least one aspect of HRQoL in individuals with LSDs since 2017 were identified. Data were extracted to assess both the characteristics of each study and of the PROMs utilised within each study. The extraction of HRQoL domains and synthesis were informed by an a priori framework, inductively modified to reflect data emerging from the identified literature. Selection and extraction was undertaken independently by two reviewers; discrepancies were ratified by a third reviewer.
Sixty nine studies were identified which were published 2017-2022, with a combined total of 52 PROMs (71 variants) used to assess HRQoL in individuals with LSDs. The final extracted HRQoL framework included 7 domains (Activities; Physical sensations; Autonomy; Cognition; Feelings and emotions; Self-identity; Relationships), characterised by 37 sub-domains.
This review highlights the breadth and variety of HRQoL domains assessed in individuals with LSDs, across three broad domains of physical, psychological and social functioning. The resultant framework and mapped PROMs will aid researchers and clinicians in the selection of PROMs to assess aspects of HRQoL in people living with LSDs, based on their conceptual coverage.
溶酶体贮积症（LSD）是一组罕见的遗传性代谢疾病，由 70 多种疾病组成，其特征是溶酶体功能障碍。由于其多样且进行性的症状，LSD 持续影响患者的健康相关生活质量（HRQoL）。最近发表的几项研究深入了解了 LSD 患者的 HRQoL。然而，由于研究通常集中在特定类型的 LSD 上，并且/或者使用不同的自我报告问卷或患者报告的结果测量（PROM）来评估 HRQoL，因此很难对这些证据进行有意义的综合分析。
本研究旨在综述 LSD 相关文献，确定用于评估 HRQoL 的 PROM，并生成个体诊断为 LSD 时测量的 HRQoL 领域的概念图。
2022 年 3 月检索了三个电子数据库。确定了自 2017 年以来，使用多项目 PROM 评估 LSD 患者至少一个 HRQoL 方面的任何设计的原始研究。提取数据以评估每项研究的特征以及每项研究中使用的 PROM 的特征。HRQoL 领域的提取和综合由一个预先确定的框架提供信息，该框架经过修改以反映从已确定文献中出现的数据。选择和提取由两名评审员独立进行；如有分歧，则由第三名评审员批准。
确定了 2017-2022 年发表的 69 项研究，共使用 52 种 PROM（71 种变体）评估 LSD 患者的 HRQoL。最终提取的 HRQoL 框架包括 7 个领域（活动；身体感觉；自主；认知；情感和情绪；自我认同；关系），由 37 个子领域组成。
本综述强调了 LSD 患者评估的 HRQoL 领域的广度和多样性，涵盖身体、心理和社会功能三个广泛领域。由此产生的框架和映射的 PROM 将帮助研究人员和临床医生根据其概念涵盖范围，选择用于评估 LSD 患者生活质量的 PROM。
