Fabry disease and sleep disorders: a systematic review
Bartlomiej Blaszczyk1, Mieszko Wieckiewicz2, Mariusz Kusztal3
1Student Research Club No K133, Faculty of Medicine, Wroclaw Medical University, Wrocław, Poland.
Frontiers in Neurology
|October 23, 2023
Summary
Fabry disease (FD) patients frequently experience sleep disorders like excessive daytime sleepiness. However, research is limited, necessitating further studies to understand prevalence and treatment for FD sleep issues.
Area of Science:
- Genetics and rare diseases
- Neurology and sleep medicine
- Metabolic disorders
Background:
- Fabry disease (FD) is an X-linked disorder caused by alpha-galactosidase deficiency, leading to globotriaosylceramide accumulation.
- Sleep disorders are rarely documented in FD patients, despite widespread organ involvement.
Approach:
- Systematic literature search of PubMed, Scopus, and Embase databases.
- Quality assessment of included studies using NIH and JBI tools.
- Analysis of sleep disorder types and prevalence in FD patients.
Key Points:
- Nine studies involving 330 FD patients were reviewed; most studies were of poor or fair quality.
- Excessive daytime sleepiness (EDS) was more prevalent in FD patients than obstructive/central sleep apnea (OSA/CSA).
- Sleep problems appeared years after FD onset; no clear genotype-sleep problem association or ERT effectiveness was found.
Conclusions:
- Sleep disorders are common in Fabry disease, particularly EDS.
- Limited research and poor study quality hinder accurate prevalence assessment.
- Further large-scale studies are needed to establish treatment guidelines for sleep disorders in FD.
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