Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study.

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.

• Authors: Yaroslav Winter, Max Hilz, Felix Beuschlein, Takahiro Tsukimura, Erich Seifritz, Malte Lenders, Eva Brand, Julia B Hennermann, Albina Nowak
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 140 Issue 3 Pg. 107692 (11 2023) ISSN: 1096-7206 [Electronic] United States
• PMID: 37703724 (Publication Type: Multicenter Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.

Chemical References

• alpha-Galactosidase

Topics

• Adult
• Humans
• Male
• Female
• Middle Aged
• Fabry Disease (diagnosis, genetics, complications)
• Quality of Life
• Ischemic Attack, Transient (complications, diagnosis, drug therapy)
• Cross-Sectional Studies
• alpha-Galactosidase (genetics, therapeutic use)
• Stroke (complications)
• Pain (drug therapy)
• Heart Diseases