Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults

Abstract

Background: Fabry disease (FD) is a multi-organ disorder associated with severe physical and psychological impairments, particularly in adulthood. To date, comprehensive data on the psychological burden of FD are lacking. The present study assessed quality of life (QOL) in a representative cohort of adults with FD.Methods: Patient-reported outcome measures were retrospectively analyzed in 86 adults with FD (49.6± 16.6 years; 62.8% female) and compared to adults with congenital heart defects (ACHD) which is another lifelong disease and affliction. QOL was assessed using the European Quality of Life 5 Dimensions 5 Levels questionnaire (EQ-5D-5L).Results: Subjects affected by FD reported an overall reduced QOL (EQ-VAS: 71.8±20.0). Most frequently reported complaints occurred within the dimensions pain/discomfort (69.7%), daily activities (48.9%) and anxiety/depression (45.4%). Compared to ACHD, individuals with FD scored significantly lower in the areas of pain/discomfort, usual activities and mobility (all P<0.05). Older age and female sex were particularly associated with diminished QOL (P=0.05).Conclusions: Patients with FD are at high risk for impaired QOL. They require additional support to cope with disease-related challenges. Increased attention should be directed towards improving their subjective well-being to potentially increase their QOL and long-term health outcomes.

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations

“…Today, more than 1,000 GLA gene variants have been identified in the chromosomal region Xq22.1, including splicing alterations, deletions, translocations, complex gene rearrangement, and point missense variants ( 5 , 6 ), but an exact genotype-phenotype correlation in FD cannot be established. The signs and symptoms of FD are heterogeneous with high variability among patients ( 7 ). Males carrying the defective gene will develop the pathology with often severe clinical manifestations while females, once thought to be just asymptomatic carriers, could develop the disease with mild to severe signs ( 8 ).…”