Human, economic, and social impact of lysosomal storage diseases.

ABSTRACT:

Background

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.

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 (HCPs). Data were collected on sociodemographic characteristics, clini

SUBMITTER: Brignani E 

PROVIDER: S-EPMC12645673 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature