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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| Format: | Article |
| Language: | English |
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MDPI AG
2021-10-01
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| Series: | Diseases |
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| Online Access: | https://www.mdpi.com/2079-9721/9/4/72 |
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| author | Barbara Polistena Donato Rigante Ludovico Luca Sicignano Elena Verrecchia Raffaele Manna Daniela d’Angela Federico Spandonaro |
| author_facet | Barbara Polistena Donato Rigante Ludovico Luca Sicignano Elena Verrecchia Raffaele Manna Daniela d’Angela Federico Spandonaro |
| author_sort | Barbara Polistena |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T04:17:57Z |
| format | Article |
| id | doaj.art-58de91775fa444bfa99265a44d51c3dd |
| institution | Directory Open Access Journal |
| issn | 2079-9721 |
| language | English |
| last_indexed | 2024-03-10T04:17:57Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diseases |
| spelling | doaj.art-58de91775fa444bfa99265a44d51c3dd2023-11-23T07:55:43ZengMDPI AGDiseases2079-97212021-10-01947210.3390/diseases9040072Survey about the Quality of Life of Italian Patients with Fabry DiseaseBarbara Polistena0Donato Rigante1Ludovico Luca Sicignano2Elena Verrecchia3Raffaele Manna4Daniela d’Angela5Federico Spandonaro6Department of Economic and Finance, University of Rome Tor Vergata, C.R.E.A. Sanità, via Columbia n. 2, 00133 Rome, ItalyDepartment of Life Sciences and Global Health, Fondazione Policlinico A. Gemelli IRCCS, 00168 Rome, ItalyRare diseases and Periodic Fever Research Center, Department of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyRare diseases and Periodic Fever Research Center, Department of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyRare diseases and Periodic Fever Research Center, Department of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Economic and Finance, University of Rome Tor Vergata, C.R.E.A. Sanità, via Columbia n. 2, 00133 Rome, ItalyDepartment of Economic and Finance, University of Rome Tor Vergata, C.R.E.A. Sanità, via Columbia n. 2, 00133 Rome, ItalyFabry 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.https://www.mdpi.com/2079-9721/9/4/72Fabry diseasehealth-related quality of lifepersonalized medicineinnovative biotechnologies |
| spellingShingle | Barbara Polistena Donato Rigante Ludovico Luca Sicignano Elena Verrecchia Raffaele Manna Daniela d’Angela Federico Spandonaro Survey about the Quality of Life of Italian Patients with Fabry Disease Diseases Fabry disease health-related quality of life personalized medicine innovative biotechnologies |
| 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 | Fabry disease health-related quality of life personalized medicine innovative biotechnologies |
| url | https://www.mdpi.com/2079-9721/9/4/72 |
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