Human, economic, and social impact of lysosomal storage diseases

TL;DR

Lysosomal storage diseases cause severe health and financial burdens for patients and families, with high healthcare costs and significant quality of life impacts.

Contribution

This study quantifies the economic and social impact of LSDs in Spain, highlighting the need for targeted support and policy changes.

Findings

Patients with LSDs require an average of 107.8 medical visits per year, with high out-of-pocket expenses.

The total annual cost per patient is €228,232.60, with 81.4% borne by the Spanish Health System.

Families face an average annual cost of €6,170.20 for formal care and uncovered medical expenses.

Abstract

Lysosomal storage disorders (LSDs) are a group of rare metabolic conditions caused by enzyme deficiencies, leading to the accumulation of macromolecules within lysosomes. These disorders significantly impact patients’ quality of life (QoL) and impose substantial financial burdens on families and healthcare systems. This study aimed to evaluate the daily life impact and economic burden of LSDs on patients, caregivers, the Spanish Health System (SHS), and society.

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 (HCPs). Data were collected on sociodemographic characteristics, clinical variables, QoL, and economic costs. Caregivers provided responses on behalf of both themselves and the patients. Direct and indirect costs were assessed based on healthcare resource utilisation, productivity losses, and patient-incurred expenses.

The study included data on 86 patients, with 22 patients responding on their own behalf and 64 caregivers responding on behalf of themselves and their patient. Twelve different LSDs were identified, with Sanfilippo (22.1%) and Fabry (18.1%) being the most prevalent. The mean age at diagnosis was 9.9 years, with an average diagnostic delay of 4.3 years. Patients required an average of 107.8 medical visits per year, many of which were out-of-pocket, particularly for physiotherapy (28.6 visits/year) and psychological services. The total annual cost per patient was €228,232.60, with direct costs to the SHS accounting for 81.4% of this amount. Indirect costs, primarily due to informal caregiving and productivity losses, represented 15.9%. Families bore an average annual cost of €6,170.20, mainly for formal care and non-covered medical expenses. Clinically, 29.1% of patients had severe-to-profound functional limitations, and 31.4% had cognitive limitations, significantly affecting their daily activities, mobility, and emotional well-being.

LSDs impose a substantial economic and social burden on patients and their families, with high healthcare costs and significant productivity losses. The study underscores the need for comprehensive support strategies addressing both economic and social challenges faced by affected families. Future research should explore country-specific economic impacts and develop policies to mitigate the financial strain on these families.

The online version contains supplementary material available at 10.1186/s13023-025-04053-z.

Figures