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Endocrine Abstracts (2024) 99 EP97 | DOI: 10.1530/endoabs.99.EP97

ECE2024 Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (383 abstracts)

Resilience in patients with fabry disease and its association with disease course, psychosocial factors and quality of life: a multicentre cross-sectional study

Albina Nowak 1,2 & Yaroslav Winter 3


1university Hospital Zurich, Endocrinology, Zurich, Switzerland; 2University Hospital of Zürich, Zürich, Switzerland; 3University Hospital Mainz, Neurology


Fabry disease (FD) is an X-linked lysosomal storage disorder originating from mutations in the GLA-gene causing deficiency in alpha-Galactosidase A (GLA) which leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3). The classic phenotype is characterized by neuropathic pains and pain crises, anhidrosis, abdominal cramping. With advancing age, the disease leads to life-threatening complications such as renal dysfunction, left ventricular hypertrophy, hypertrophic cardiomyopathy or cryptogenic stroke. These debilitating symptoms are associated with depression and impaired quality of life. Resilience is known as an individual’s ability of coping with stressors and is characterized as high self-esteem, optimism and self-efficacy. Resilience enhancement programmes were shown to have a benefit on resilience, depression, anxiety and quality of life. 122 genetically confirmed FD patients from the university hospitals of Zurich Switzerland and Mainz Germany completed self-report questionnaires Resilience Scale 11 (RS-11), Beck Depression Inventory (BDI), Pain Disability Index (PDI), Pittsburgh Sleep Quality Index (PSQI), Trierer Inventory for Chronic (TICS-SSCS). Women indicated higher resilience scores than men (59 ± 14.4 vs 54.4 ± 19.2) and patients without enzyme replacement therapy (ERT) higher than on ERT (64.5 ± 15.9 vs 55.8 ± 16.5). Among females, resilience was higher if the FD diagnose was made at younger age (r=-0.40, P=0.02), while resilience declined with increasing age (r= -0.26, P=0.04). More symptomatic patients showed lower resilience scores (r= -0.24, P=0.01). The RS-11 showed a significant adverse correlation with BDI (r= -0.59; P=0.001), PDI (r= -0.31, P=0.006), PSQI (r= -0.53, P=0.001) and TICS-SSCS (r= -0.42, P=0.001). Our analyses show that impaired resilience is associated with depression, pains, poor sleep and chronic stress. All these factors are modifiable and treatable. Importantly, resilience enhancement programs should be offered to Fabry patients.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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