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

Barbara Polistena; Donato Rigante; Ludovico Luca Sicignano; Elena Verrecchia; Raffaele Manna; Daniela d'Angela; Federico Spandonaro

doi:10.3390/diseases9040072

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

Diseases. 2021 Oct 15;9(4):72. doi: 10.3390/diseases9040072.

Authors

Barbara Polistena¹, Donato Rigante², Ludovico Luca Sicignano³, Elena Verrecchia³, Raffaele Manna³, Daniela d'Angela¹, Federico Spandonaro¹

Affiliations

¹ Department of Economic and Finance, University of Rome Tor Vergata, C.R.E.A. Sanità, via Columbia n. 2, 00133 Rome, Italy.
² Department of Life Sciences and Global Health, Fondazione Policlinico A. Gemelli IRCCS, 00168 Rome, Italy.
³ Rare diseases and Periodic Fever Research Center, Department of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Abstract

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.

Keywords: Fabry disease; health-related quality of life; innovative biotechnologies; personalized medicine.