Health-Related Quality of Life in Fabry Disease: A Cross-sectional International Multicenter Study

Abstract

BackgroundFabry 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.ResultsIn this cross-sectional multicenter study, 124 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, EQVAS) and depression were collected by means of self-reporting questionnaires. HrQol and its predictors were evaluated by univariate and multivariate regression analyses.Study population consisted of 72 female and 52 male FD patients (median age 48yrs) of whom 87.9% (N=109) were on enzyme replacement therapy (ERT) (68.8% [N= 75] were on agalsidase α and 31.2% [N=34] on agalsidase β). Univariate analysis revealed various factors reducing HrQol, such as age>40 years, classic phenotype, organ involvement (kidney and heart disease, stroke/transient ischemic attack, 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 was an independent determinant of increased HrQol.ConclusionsModifiable 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 that the classic phenotype is a strong predictor of HrQol worsening.