In Fabry Disease, Indicators of Low Quality of Life Are Identified
In patients with Fabry disease, older age and male gender predict lower health-related quality of life over time, according to a new study.
To determine the effect of Fabry disease—a progressive, X-linked, lysosomal storage disorder that results in multiorgan dysfunction—on health-related quality of life (HRQOL), researchers at the Centre for Rare Disorders in Oslo, Norway, assessed the longitudinal outcomes in the HRQOL of 43 patients with Fabry disease who had follow-up visits at their clinic from 2006 to 2020.
In addition, the researchers evaluated the trajectories of physical and mental HRQOL scores on the physical and mental composite scores on the Short-Form-36 Health Survey (SF-36) from initial registration at baseline to the 2 follow-up visits made after 3 to 5 years and 7 to 13 years.
They also explored the possibility of associations between age, gender, or medical complications and these trajectories by running 2 hierarchical linear models. The researchers analyzed retrospective data extracted from medical records until 2020, when data was collected prospectively. Participants’ ages ranged from 18 to 81 years at baseline.
Results of the analysis showed that mean baseline scores on the domains of the SF-36 were all significantly lower for the patients with Fabry disease compared with those for the general Norwegian population. Although most patients had experienced a decrease in physical and mental HRQOL, their scores on the 8 domains of the SF-36 generally remained stable during the 13 years of follow-up. Only scores on the physical and social functioning domains deteriorated to a clinically significant extent during the follow-up period.
Moreover, results of linear modeling revealed that age older than 47 years, male gender, small fiber neuropathy, renal dysfunction, and cerebrovascular events were all significantly associated with lower HRQOL over time.
“Medical complications in combination with older age and male [gender] are important predictors of lower HRQOL in [patients with Fabry disease], the researchers concluded. “The findings provide indicators that can guide treatment decisions to improve physical and mental HRQOL outcomes.”
Sigurdardottir S, Bjerkely B, Jenssen TG, et al. The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease. Orphanet J Rare Dis. 2021;16(1):427. https://doi.org/10.1186/s13023-021-02066-y