Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study
Winter Y, Hilz M, Beuschlein F, Tsukimura T, Seifritz E, Lenders M, Brand E, Hennermann JB, Nowak A (2023)
Publication Type: Journal article
Publication year: 2023
Journal
Book Volume: 140
Article Number: 107692
Journal Issue: 3
DOI: 10.1016/j.ymgme.2023.107692
Abstract
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. In order to improve health care of FD-patients, knowledge of its predictors is important. The aim of our study was to evaluate health-related quality of life (HrQol) in FD and to identify its independent determinants by exploring a wide range of demographic, social and clinical parameters. Results: In this cross-sectional multicenter study, 135 adult patients with FD were recruited at three specialized European centers in Germany and Switzerland. Demographics, social status and clinical parameters as well as data on HrQol (EQ5D, EQ VAS) and depression were collected by means of self-reporting questionnaires and confirmed by medical records. HrQol and its predictors were evaluated by univariate and multivariate regression analyses. The study population consisted of 78 female and 57 male FD patients (median age 48 yrs) of whom 80.7% (N = 109) were on enzyme replacement therapy (ERT) and 10.4% (N = 14) were on chaperone treatment. Univariate analysis revealed various factors reducing HrQol such as age > 40 years, classic phenotype, organ involvement (kidney and heart disease, stroke/transient ischemic attack (TIA), gastrointestinal disturbances), depression, and burning limb pain. However, only the following factors were identified as independent predictors of decreased HrQol: classic phenotype, kidney and heart disease, stroke/TIA, depression, and burning limb pain. ERT and chaperone therapy were independent determinants of increased HrQol. Conclusions: Modifiable factors, such as burning limb pain and depression, identified as independent predictors of HrQol-deterioration should be addressed in programs aiming to improve HrQol in FD. A multidisciplinary approach is essential in FD-patients since diverse organ involvement prominently compromises HrQol in affected patients. Our findings showed that the classic phenotype is a strong predictor of worsening HrQol.
Involved external institutions
Universitätsmedizin der Johannes Gutenberg-Universität Mainz
Germany (DE)
Icahn School of Medicine at Mount Sinai
United States (USA) (US)
Universitätsspital Zürich (USZ)
Switzerland (CH)
Meiji Pharmaceutical University / 明治薬科大学
Japan (JP)
Psychiatrische Universitätsklinik Zürich
Switzerland (CH)
Universitätsklinikum Münster
Germany (DE)
Germany (DE)
Icahn School of Medicine at Mount Sinai
United States (USA) (US)
Universitätsspital Zürich (USZ)
Switzerland (CH)
Meiji Pharmaceutical University / 明治薬科大学
Japan (JP)
Psychiatrische Universitätsklinik Zürich
Switzerland (CH)
Universitätsklinikum Münster
Germany (DE)
How to cite
APA:
Winter, Y., Hilz, M., Beuschlein, F., Tsukimura, T., Seifritz, E., Lenders, M.,... Nowak, A. (2023). Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study. Molecular Genetics and Metabolism, 140(3). https://dx.doi.org/10.1016/j.ymgme.2023.107692
MLA:
Winter, Yaroslav, et al. "Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study." Molecular Genetics and Metabolism 140.3 (2023).
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