ArticleMolecular genetics and metabolism reports2020
Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 3 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 3 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- 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 and sleep disorders: a systematic review.Frontiers in neurology · 2023Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.Orphanet journal of rare diseases · 2024Article
- Palm-Plant Pain, Sign of a Severe Systemic Disease? Case Report and Review of Literature.Genes · 2023Review
- Quality of life in patients with Fabry's disease: a cross-sectional study of 86 adults.Cardiovascular diagnosis and therapy · 2022Article
- Reduced α-galactosidase A activity in zebrafish (Molecular genetics and metabolism reports · 2022Article
- Multidisciplinary Management of Fabry Disease: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.JIMD reports · 2021Article
- The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.Orphanet journal of rare diseases · 2021Article
- Review of Mechanisms, Pharmacological Management, Psychosocial Implications, and Holistic Treatment of Pain in Fabry Disease.Journal of clinical medicine · 2021Review
- Review
- The Association of Self-Reported Iron and Vitamin D Levels on Sleep Quality and Pain Perception in a Subset of Saudi Population.Risk management and healthcare policy · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is a lysosomal disease in which mutations affect the
objectivesTo evaluate pain, depression, sleep disturbances, disability and disease impact on quality of life in a cohort of Brazilian FD patients and compare between groups stratified by the Mainz Symptom Severity Index (MSSI) Methods: Thirty-seven genotype confirmed classic FD patients - 16 male and 21 female - (mutations: C142R, A156D, L180F, R227X, W262X, G271A, P293S, Y264SX) were evaluated and answered the following questionnaires: Brief Pain Inventory (BPI), Hamilton Depression Rating Scale (HAM-D), Pittsburgh Sleep Quality Index (PSQI), Health Assessment Questionnaire Disability Index (HAQ-DI), Short-Form Health Survey 36 (SF-36).
resultsIn FD patients, mean ± SD BPI severity result was 2.78 ± 2.66 for severe; 2.80 ± 2.55 for moderate and 1.55 ± 2.38 for mild severity patients. Mean ± SD BPI interference result was 2.55 ± 2.44 for severe; 2.80 ± 3.18 for moderate and 1.36 ± 2.83 for mild patients. BPI severity and interference values correlated with MSSI scores (
conclusionsDepression, sleep disturbances and disability were under-recognized in FD patients. HAQ-DI revealed worse disability according to MSSI severity status. The lowest raw scores from the SF-36 questionnaire were for the domains general health perception and physical role functioning. Standardized assessments should be routine care and started as early as diagnosis of Fabry disease is made.
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