Orphanet Journal of Rare Diseases | Study on the Daily Impact and Economic Burden of Lysosomal Storage Diseases

Recommend:

This study provides the first systematic assessment of the daily impact and economic burden of Lysosomal Storage Diseases (LSDs) on patients and caregivers in Spain, revealing a decline in quality of life and significant medical expenditures, offering important insights for policymakers and healthcare systems.

 

Literature Overview

The article titled 'Human, economic, and social impact of lysosomal storage diseases' published in the journal Orphanet Journal of Rare Diseases reviews and summarizes the impact of lysosomal storage diseases (LSDs) on the quality of life and economic burden of patients and their caregivers. Based on a cross-sectional questionnaire survey involving 86 patients and caregivers, the study analyzes health resource utilization, decline in quality of life (QoL), and economic burden of LSDs in Spain, providing empirical evidence for formulating comprehensive support strategies.

Background Knowledge

Lysosomal storage disorders (LSDs) are a group of rare metabolic diseases caused by deficiencies in lysosomal enzymes, leading to the accumulation of macromolecules within cells, which affects cellular function and survival. LSDs encompass over 70 diseases, such as Sanfilippo, Fabry, and Hurler syndromes, typically presenting with symptoms in visceral organs, eyes, blood, bones, and the nervous system. The diseases can manifest from infancy to adulthood and are progressive in nature, significantly reducing patients' quality of life, while also affecting caregivers emotionally and professionally. Currently, only a few LSDs have pharmacological treatments, such as enzyme replacement therapy (ERT), while other approaches, including hematopoietic stem cell transplantation, substrate reduction therapy, and gene therapy, are still under development. Despite the relatively low overall incidence of LSDs, individual patients bear heavy disease burdens, consume high healthcare resources, and require long-term informal caregiving, placing continuous stress on families and healthcare systems. This study aims to evaluate the health, economic, and social impacts of LSDs in Spain from the perspectives of patients and caregivers, providing data for policy formulation.

 

A practical tool that quickly maps DNA or RNA sequences to the genome.

Learn More

 

Research Methods and Procedures

This study adopted a cross-sectional questionnaire design, consisting of five stages: 1) literature review, 2) focus groups with patients and medical experts, 3) questionnaire design, 4) survey of patients and caregivers, and 5) cost analysis. Led by a scientific committee (7 medical experts and 1 patient representative), the questionnaire was developed based on literature and focus group feedback, covering sociodemographic, clinical, quality-of-life (QoL), and economic cost aspects. Data were collected from 86 participants, including 22 self-reported and 64 caregiver-reported responses, representing 12 LSD subtypes. Healthcare resource use data were provided by caregivers and medical experts, with unit costs estimated using the eHealth database and Royal Decree. Costs were categorized into direct (medical expenses), indirect (productivity loss), and out-of-pocket family expenses, all annualized and averaged per person.

Key Findings and Insights

• The average total annual cost per LSD patient is €228,232.60, with 81.4% covered by the Spanish healthcare system, 15.9% indirect costs (informal caregiving and productivity loss), and only 2.7% paid out-of-pocket by families.
• Patients average 107.8 medical visits annually, with physiotherapy (28.6 visits/year), general practice (15.4 visits/year), and speech therapy (13.1 visits/year) being the most common. Some visits require out-of-pocket payments.
• Over 60% of patients receive specific treatments, with enzyme replacement therapy (ERT) being most common, followed by small molecule drugs, hematopoietic stem cell transplantation, and gene therapy.
• Approximately 29.1% of patients have severe to profound functional limitations, and 31.4% experience cognitive impairments, significantly affecting their quality of life, particularly in mobility, leisure, and daily activities.
• Both patients and caregivers report emotional disturbances, with anxiety, depression, nervousness, and irritability being the most frequently reported symptoms, affecting mental health.
• About 40% of patients were hospitalized in the past year due to the disease, with an average stay of 11.5 days. Approximately 48% received formal care, of which 57.1% was paid by families.
• The average annual out-of-pocket cost for families is €6,170.20, primarily spent on formal caregiving, medications, and uncovered healthcare services.

Significance and Future Directions

The study highlights the profound socioeconomic and emotional impact of LSDs on patients and families, particularly in terms of caregiving burden and out-of-pocket medical expenses. It calls for comprehensive policies to reduce family strain, including psychological support, caregiver subsidies, and coverage of treatment costs. Future research should adopt longitudinal designs to evaluate how different treatment modalities affect disease burden and explore personalized therapeutic strategies. Additionally, the study recommends implementing national-level financial compensation policies to reduce economic vulnerability among families affected by rare diseases.

 

Evaluates the pathogenic potential of gene variants, providing a reference for variant functional analysis.

Learn More

 

Conclusion

This study systematically analyzed the health and economic burdens of lysosomal storage diseases (LSDs) in Spain, revealing declines in patient quality of life, prolonged informal caregiving hours, and substantial medical expenditures. Results show that the average annual medical cost per patient exceeds €228,000, with the majority covered by the Spanish healthcare system, but families still pay €6,170 out-of-pocket, primarily for physiotherapy, psychological services, and uncovered medications. Additionally, the study found that over half of patients receive specific treatments, yet the disease continues to significantly affect their ability to live and work independently. The study advocates for more comprehensive support policies, including mental health services, caregiver financial assistance, and national funding for treatment costs. Future studies should further refine the relationship between disease subtypes and treatment responses to optimize resource allocation and patient management.

 

Eduardo Brignani, María José de Castro-López, Antonio Gonzalez-Meneses, Gabriel Fernando Ballester-Lozano, and Héctor David de Paz. Human, economic, and social impact of lysosomal storage diseases. Orphanet Journal of Rare Diseases.