Burden associated with Fabry disease and its treatment in 12-15 year olds: results from a European survey.

ABSTRACT:

Background

Fabry Disease (FD) is a rare X-linked metabolic lysosomal disorder. FD has a broad range of symptoms which vary markedly between patients. The heterogenous nature of the disease makes diagnosis difficult for health care professionals (HCPs), which in turn has a significant effect on the patient's quality of life (QoL). As few adolescent patients are eligible for treatment, to date there has been little published data on the burden of disease and impact of treatment on these patients and their caregivers. This study was developed to provide some insight into these groups.

Methods

An online-based survey was performed to gather further insights on the burden of FD in 14 adolescents aged 12-15 years old across three European countries, from the perspective of the pati

SUBMITTER: Bashorum L 

PROVIDER: S-EPMC9287883 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature