ArticleJournal of patient-reported outcomes2022
Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan.
Article in Journal of patient-reported outcomes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 3 of them syntheses that pooled it.
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Who cites it
7 citing papers in PubMed, 3 syntheses or guidelines pooled it, 8 citations in OpenAlex.
- Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework.Journal of patient-reported outcomes · 2026Pooled it
- A systematic literature review on the health-related quality of life and economic burden of Fabry disease.Orphanet journal of rare diseases · 2024Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
- Experiences of Patients and Families Living with Krabbe Disease.Journal of patient experience · 2025Article
- Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.Orphanet journal of rare diseases · 2024Article
- Reliability assessment using the test-retest method and minimal important changes in the Adult Fabry Disease Quality of Life Scale.Therapeutic advances in rare diseaseArticle
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry 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 conducted based on guidelines for scale development. Exploratory factor analysis was used to clarify the factor structure and confirm internal consistency. As a measure of QOL, construct validity was of the scale was verified based on its correlations with the Short Form-8 (SF-8) scale.
resultsThe newly created Adult Fabry Disease QOL (AFQOL) scale comprises 39 items that cover five factors: "neuropathic pain and abdominal symptoms," "impact on work and school," "relationship challenges," "ophthalmologic and otolaryngologic symptoms," and "cardiovascular and renal symptoms." Cronbach's alpha coefficient for all factors was above 0.8, and the AFQOL total scores were significantly correlated with the physical and mental components of the SF-8 (rs = - 0.508 and - 0.400, respectively).
conclusionsThe AFQOL scale assesses physical symptoms and social difficulties experienced by adult patients with Fabry disease. A strength of the scale is its ability to assess the impact of work and relationships on patients. The scale can be useful in objectively assessing QOL for a group or for individual patients. Future research should explore further aspects of the scale's validity and reliability.
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