OBJECTIVES: Lysosomal storage disorders (LSDs) are a group of metabolic disorders caused by lysosomal enzyme deficiencies. These complex conditions impose substantial financial burdens on the Spanish Health System (SHS), society, and affected families. This research aims to estimate the socio-economic impact of LSDs on the SHS, society, patients and caregivers.

METHODS: This cross-sectional study used an ad-hoc questionnaire targeting Spanish LSD patients and their caregivers. The questionnaire was based on a literature review and insights from patients/caregivers and healthcare professionals.

RESULTS: 86 respondents (22 patients and 64 caregivers) completed the questionnaire. Sanfilippo (22.1%) and Fabry (18.1%) were the most represented LSDs. Patients and caregivers had a mean (SD) age of 23.1 (17.0) and 47.6 (8.9) years, respectively and 48.8% and 71.9% being women. 28.1% of caregivers were unemployed due to their role, and 44.8% of employed caregivers had to reduce their worktime.

The total cost of LSD per patient-year (p/y) was 126.784,4€, comprising direct costs to SHS (66.5%), indirect costs (28.7%), and direct costs incurred by the patient (4.9%). The mean direct cost was 84,267.53€ p/y, primarily due to treatment expenses (80.1%). Indirect cost was 36,346.72€ p/y, mainly corresponding to the informal care (89.0%). Direct costs incurred by the patient were 6,170.20€ p/y, primarily due to formal care (38.3%) and non-financed pharmacological treatment (20.3%). Notably, some specialists, such as physiotherapists and speech-language therapist, require frequent visits (28.5 and 13.1 visits p/y, respectively), which are often not covered by the SHS.

CONCLUSIONS: LSDs create a significant economic burden on the SHS and affected families. Most indirect costs are due to informal care, highlighting the impact on caregivers. Furthermore, affected families experience a loss of employment opportunities and an increase in out-of-pocket costs. Thus, addressing the challenges of LSDs requires integrated strategies that consider both economic and social needs.