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

Barbara Polistena,Donato Rigante,Daniela D’Angela,Raffaele Manna,Elena Verrecchia,Federico Spandonaro,Ludovico Luca Sicignano

doi:10.3390/diseases9040072

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.

Highlights

Fabry disease (FD) is a rare X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme alpha-galactosidase A and basically characterized by the progressive accumulation of complex glycolipids in the vascular endothelium of several organs, including kidney, heart, nervous system, and skin [1]
Treatment of FD is based on two main options: enzyme replacement therapy (ERT), agalsidase alfa and beta, administered intravenously every 14 days, and chaperone therapy, taken orally every other day [1,2], which is only indicated for patients with FD caused by specific genetic variants defined as “amenable”
A special algorithm allowed the mapping of the EQ-5D, translating results in terms of quality-adjusted life years (QALY)

Summary

Introduction

Fabry disease (FD) is a rare X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme alpha-galactosidase A and basically characterized by the progressive accumulation of complex glycolipids in the vascular endothelium of several organs, including kidney, heart, nervous system, and skin [1]. The disease is marked by increasingly severe and permanent damage to different tissues and systems. Non-catabolized lipids can accumulate in the kidney, where they cause microalbuminuria, proteinuria, and progressive loss of function up to renal failure, and in the myocardium, where they cause biventricular hypertrophy and arrhythmias. FD patients might display ocular, audiological and skin involvement with occurrence of angiokeratomas, while male patients are usually characterized by the most severe and complete clinical phenotypes [1]. Treatment of FD is based on two main options: enzyme replacement therapy (ERT), agalsidase alfa and beta, administered intravenously every 14 days, and chaperone therapy (migalastat), taken orally every other day [1,2], which is only indicated for patients with FD caused by specific genetic variants defined as “amenable”

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