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Survey about the Quality of Life of Italian Patients with Fabry Disease

Fabry disease (FD) is a genetic disease included in the group of lysosomal storage disorders, caused by X-linked deficiency of the enzyme alpha-galactosidase A. The aim of this study was to evaluate different aspects related to the quality of life (QoL) of a multicentre cohort of Italian patients wi...

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Autores principales: Polistena, Barbara, Rigante, Donato, Sicignano, Ludovico Luca, Verrecchia, Elena, Manna, Raffaele, d’Angela, Daniela, Spandonaro, Federico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544536/
https://www.ncbi.nlm.nih.gov/pubmed/34698147
http://dx.doi.org/10.3390/diseases9040072
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author Polistena, Barbara
Rigante, Donato
Sicignano, Ludovico Luca
Verrecchia, Elena
Manna, Raffaele
d’Angela, Daniela
Spandonaro, Federico
author_facet Polistena, Barbara
Rigante, Donato
Sicignano, Ludovico Luca
Verrecchia, Elena
Manna, Raffaele
d’Angela, Daniela
Spandonaro, Federico
author_sort Polistena, Barbara
collection PubMed
description Fabry disease (FD) is a genetic disease included in the group of lysosomal storage disorders, caused by X-linked deficiency of the enzyme alpha-galactosidase A. The aim of this study was to evaluate different aspects related to the quality of life (QoL) of a multicentre cohort of Italian patients with FD. An observational survey was conducted to measure health-related quality of life (HR-QoL) in FD patients using the CAPI (Computer-Assisted Personal Interview) method: 106 patients (mostly women) responded to the questionnaire. Geographically, 53.7% of patients lived in northern Italy, 18.9% in central Italy and 27.4% in southern Italy or the Islands. All data were collected through a five-dimensional EuroQoL questionnaire referring to functional aspects (mobility, personal care, routine activities) and perception of physical/mental well-being (pain or discomfort, anxiety or depression). A descriptive analysis of responses was performed; FD patients were compared in terms of QoL with subjects suffering from other chronic diseases, such as Crohn’s disease, chronic hepatitis, cirrhosis and multiple sclerosis. Difficulty in normal daily activities was reported by 47.2% of FD patients. About one third of subjects also had mobility difficulties. Feelings of loneliness and isolation were reported by 33.3% of those being 60–69 years old. Anxiety was equally reported in both oldest and youngest patients (66.7%), while depression, relational problems, fear of other people’s judgement increased along with age, reaching 66.7% in the over-70-years group. Male patients were largely troubled about the risk of physical disability, particularly those aged 60 years or over. Furthermore, FD patients had a poorer QoL than people suffering from other chronic inflammatory disorders. Our study upholds that FD patients have a poor QoL, as already known, negatively impacting psychic well-being and social activities. Our survey has also found a worse QoL in FD patients compared with other severe chronic disorders.
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spelling pubmed-85445362021-10-26 Survey about the Quality of Life of Italian Patients with Fabry Disease Polistena, Barbara Rigante, Donato Sicignano, Ludovico Luca Verrecchia, Elena Manna, Raffaele d’Angela, Daniela Spandonaro, Federico Diseases Article Fabry disease (FD) is a genetic disease included in the group of lysosomal storage disorders, caused by X-linked deficiency of the enzyme alpha-galactosidase A. The aim of this study was to evaluate different aspects related to the quality of life (QoL) of a multicentre cohort of Italian patients with FD. An observational survey was conducted to measure health-related quality of life (HR-QoL) in FD patients using the CAPI (Computer-Assisted Personal Interview) method: 106 patients (mostly women) responded to the questionnaire. Geographically, 53.7% of patients lived in northern Italy, 18.9% in central Italy and 27.4% in southern Italy or the Islands. All data were collected through a five-dimensional EuroQoL questionnaire referring to functional aspects (mobility, personal care, routine activities) and perception of physical/mental well-being (pain or discomfort, anxiety or depression). A descriptive analysis of responses was performed; FD patients were compared in terms of QoL with subjects suffering from other chronic diseases, such as Crohn’s disease, chronic hepatitis, cirrhosis and multiple sclerosis. Difficulty in normal daily activities was reported by 47.2% of FD patients. About one third of subjects also had mobility difficulties. Feelings of loneliness and isolation were reported by 33.3% of those being 60–69 years old. Anxiety was equally reported in both oldest and youngest patients (66.7%), while depression, relational problems, fear of other people’s judgement increased along with age, reaching 66.7% in the over-70-years group. Male patients were largely troubled about the risk of physical disability, particularly those aged 60 years or over. Furthermore, FD patients had a poorer QoL than people suffering from other chronic inflammatory disorders. Our study upholds that FD patients have a poor QoL, as already known, negatively impacting psychic well-being and social activities. Our survey has also found a worse QoL in FD patients compared with other severe chronic disorders. MDPI 2021-10-15 /pmc/articles/PMC8544536/ /pubmed/34698147 http://dx.doi.org/10.3390/diseases9040072 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Polistena, Barbara
Rigante, Donato
Sicignano, Ludovico Luca
Verrecchia, Elena
Manna, Raffaele
d’Angela, Daniela
Spandonaro, Federico
Survey about the Quality of Life of Italian Patients with Fabry Disease
title Survey about the Quality of Life of Italian Patients with Fabry Disease
title_full Survey about the Quality of Life of Italian Patients with Fabry Disease
title_fullStr Survey about the Quality of Life of Italian Patients with Fabry Disease
title_full_unstemmed Survey about the Quality of Life of Italian Patients with Fabry Disease
title_short Survey about the Quality of Life of Italian Patients with Fabry Disease
title_sort survey about the quality of life of italian patients with fabry disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544536/
https://www.ncbi.nlm.nih.gov/pubmed/34698147
http://dx.doi.org/10.3390/diseases9040072
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