Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan.

ABSTRACT:

Background

Fabry disease is a rare X-linked lysosomal storage disorder. It is associated with physical distress and social challenges that may affect adults differently compared to pediatric patients. However, there is no disease-specific quality of life (QOL) scale that can provide a detailed assessment of QOL for adults with Fabry disease. Therefore, we aimed to determine the factor structure and assess the validity of a scale that was created to assess the QOL of adult patients with Fabry disease. This study was conducted in two phases. First, scale feasibility was confirmed through a questionnaire survey of nine patients. Second, a cross-sectional questionnaire survey of patients (aged ≥ 18 years) diagnosed with Fabry disease was conducted. Item development and refinement were

SUBMITTER: Koto Y 

PROVIDER: S-EPMC9672224 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature