Dataset Information

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study.

ABSTRACT:

Context

Fabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of glycosphingolipids. Enzyme replacement and chaperone therapies are only partially effective. It remains unclear if FD-related endocrine disorders contribute to the observed morbidity.

Objective

To investigate the function of the endocrine system in patients with FD.

Design

We conducted an observational prospective study from 2017 to 2020.

Setting and patients

We included 77 patients with genetically confirmed FD (27 men, 20/27 Classic, 7/26 Late Onset phenotype, 50 women, 41/50 and 9/50 respectively), who are systematically followed by our reference centre.

Results

36/77 (46.8%) patients had VitD deficiency (25(0H)VitD <20 μg/L) despite the fact that 19/36 (52.8%) were substituted with cholecalciferol. Only 21/77 (27.3%) patients had normal VitD levels without VitD substitution. 11/77 (14.3%) had significant hypophosphatemia (p < 0.80 mmol/L). Three new cases (3.9%) of subclinical, two (2.6%) of overt and six (7.8%) of known hypothyroidism were identified. Of note, men had significantly higher renin levels than women [61.4 (26.1-219.6) vs.25.4 (10.9-48.0) mU/L, p = 0.003]. There were no major abnormalities in adrenal, growth and sex-hormone axes. Patients of Classic phenotype had significantly higher High-Density Lipoprotein Cholesterol (HDL-C) levels (p = 0.002) and in men those levels were positively correlated with globotriaosylsphingosin (Lyso-Gb3) values. 10/77 (13%) of the patients were underweight.

Conclusions

VitD supplementation should be considered for all patients with FD. Thyroid screening should be routinely performed. Malnutrition should be prevented or treated, particularly in Classic phenotype patients. Overall, our data suggest that FD specialists should actively seek and diagnose endocrine disorders in their patients.

SUBMITTER: Bothou C

PROVIDER: S-EPMC8888367 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Publications

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study.

Bothou Christina C Beuschlein Felix F Nowak Albina A

Endocrine 20211109 3

<h4>Context</h4>Fabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of glycosphingolipids. Enzyme replacement and chaperone therapies are only partially effective. It remains unclear if FD-related endocrine disorders contribute to the observed morbidity.<h4>Objective</h4>To investigate the function of the endocrine system in patients with FD.<h4>Design</h4>We conducted an observational prospective study from 2017 to 2 ...[more]

PMID: 34751898

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Project description: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.

Project description:OBJECTIVES:Fatigue is common and debilitating among dialysis patients. The aim of this study was to understand the longitudinal trajectory of fatigue and consider sociodemographic, clinical, and psychological factors that are related to variation in fatigue levels over time. DESIGN:A prospective study of fatigue with yearly assessments over 3 years among prevalent in-centre haemodialysis (HD) patients. METHODS:Fatigue severity was measured using the Chalder Fatigue Questionnaire and fatigue-related functional impairment using the Work and Social Adjustment Scale. The trajectories of fatigue outcomes were examined using piecewise growth models, using length of time on dialysis as time. Sociodemographic, clinical, and psychological predictors of fatigue were assessed using linear growth models, using follow-up time. RESULTS:One hundred and seventy-four prevalent HD patients completed baseline measures, 118 at 12 months, 84 at 24 months, and 66 at 36 months. Fatigue severity scores decreased by 0.15 each year. Fatigue-related functional impairment increased by 1.17 each year. In adjusted linear growth models, non-white ethnicity was a significant predictor of lower initial fatigue severity (B = -2.95, 95% CI -5.51 to -0.40) and a greater reduction in fatigue severity of 1.60 each year (95% CI 0.35-2.36). A one-point increase in damage beliefs was associated with a 0.36 increase in fatigue-related functional impairment each year (95% CI -0.61 to -0.01). CONCLUSION:Damage beliefs predicted an increase in fatigue-related functional impairment over time. However, the data strongly suggested that fatigue outcomes vary by length of time on dialysis. Statement of contribution What is already known on this subject? At least 1 in 2 haemodialysis (HD) patients are clinically fatigued. Growing evidence is available on the important role of psychological factors in fatigue across chronic conditions. The contribution of psychological factors, beyond distress, to fatigue in HD has not been examined to date. What does this study add? Ethnicity played a role in the initial level of fatigue severity and over time. Damage beliefs predicted an increase in fatigue-related impairment over time. Data strongly suggested that fatigue outcomes vary by length of time on dialysis.

Dataset Information

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study.

Context

Objective

Design

Setting and patients

Results

Conclusions

Publications

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study.

Similar Datasets

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