Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Neto, Nilton Salles Rosa; Bento, Judith Campos de Barros; Pereira, Rosa Maria Rodrigues

doi:10.1590/2326-4594-jiems-2021-0016

J. inborn errors metab. screen.

2021

DOI: 10.1590/2326-4594-jiems-2021-0016

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Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Nilton Salles Rosa Neto

Judith Campos de Barros Bento

Rosa Maria Rodrigues Pereira

Abstract: Background: Fabry disease (FD) is caused by pathogenic variants in the GLA gene. A143T and R118C variants are considered not disease causing. Patient-reported outcomes provide information concerning the effects of their disease but should be carefully analyzed in rare diseases. Objectives: To evaluate pain, depression, sleep disturbances, disability and quality of life in A143T or R118C Brazilian subjects and compare to data published for classic FD patients. Methods: Nineteen subjects -8:11 male:female -were … Show more

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2023

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Fabry disease and sleep disorders: a systematic review

Blaszczyk,

Wieckiewicz,

Kusztal

et al. 2023

Front. Neurol.

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BackgroundFabry disease (FD) is an X-chromosome-linked disorder characterized by a reduced or complete absence of the enzyme α-galactosidase, resulting in the accumulation of lysosomal globotriaosylceramide. Despite the presence of these deposits in multiple organs, the problem of sleep disorders within this population has very rarely been documented.ObjectiveThis study aimed to investigate the types and prevalence of sleep disorders among patients with FD.MethodsScreening of the following medical databases using key terms was performed on 10 February 2023: PubMed, Scopus, and Embase. A total of 136 records were identified. The quality assessment of the studies was conducted by using tools from the National Institutes of Health (NIH) and critical appraisal tools from the Joanna Briggs Institute (JBI).ResultsThe study included nine studies on sleep disorders in patients with FD. The overall quality of the majority of these studies was assessed as either poor or fair. Among 330 patients, there was a slightly higher representation of female patients (56%). Sleep problems manifested 4–5 years after the onset of FD and sometimes even after 10–11 years. Genotypes of disease associated with sleep problems were rarely described. Within the FD population, the most commonly reported conditions were excessive daytime sleepiness (EDS) as well as obstructive and central sleep apnea (OSA, CSA). However, EDS occurred more frequently in FD patients, while the prevalence of OSA and CSA was within the ranges observed in the general population. The studies included indicated a lack of association between organ impairment by primary disease and EDS and OSA. The effectiveness of enzyme replacement therapy (ERT) in treating sleep disorders was not demonstrated.ConclusionThe findings of this report revealed the presence of many sleep-related disorders within the FD population. However, very few studies on this subject are available, and their limited results make it difficult to truly assess the real extent of the prevalence of sleep disturbances among these individuals. There is a need to conduct further studies on this topic, involving a larger group of patients. It is important to note that there are no guidelines available for the treatment of sleep disorders in patients with FD.

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Fabry disease and sleep disorders: a systematic review

Blaszczyk,

Wieckiewicz,

Kusztal

et al. 2023

Front. Neurol.

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Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Cited by 1 publication

References 46 publications

Fabry disease and sleep disorders: a systematic review

Fabry disease and sleep disorders: a systematic review

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