Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.

ABSTRACT:

Background

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.

Aims

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 gene

SUBMITTER: McDool E 

PROVIDER: S-EPMC11225496 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature