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

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 patients, caregivers and HCPs.

Results: Symptom burden was found to be high in the adolescent population, with 'pain' and 'intolerance to heat or cold' commonly reported symptoms, both by patients and to HCPs. Eleven of the 14 patients surveyed were receiving enzyme replacement therapy (ERT), with their post-ERT symptomology showing improvement when compared to symptoms before receiving ERT. The majority of caregivers believe their child's overall health has improved since starting ERT. While there was a positive outlook towards ERT noted by the patients and caregivers, 4/5 HCPs believed there is 'a need for more efficacious treatment options' and all HCPs noted that there is 'a need for more manageable treatment options'. FD was shown to place a burden on caregivers, who reported feelings of guilt and absences from work.

Conclusions: Data show there is a significant symptom burden for the adolescent, which affects their QoL and mental health, as well as placing a burden on the wider family. While ERT is an effective treatment and provides symptom relief for many of the respondents in the survey, they still reported symptom burden. Additionally, there was reporting of reluctance to engage in treatment or difficulties associated with the treatment. Heterogeneity in symptom presentation suggests that the treatment regimen needs to be tailored to the individual. Physicians therefore need to have a choice of treatment options available to help them manage symptoms and disease where the benefit to risk ratio is in favour of undergoing treatment.