Journal Article

Burden of illness of Pompe disease in patients only receiving supportive care

van der Beek, Nadine A. M. E., Rutten, Frans F. H., van der Ploeg, Ans T., Kanters, Tim A., Hakkaart, Leona, Hagemans, Marloes L. C.

2011

Overview

Background Pompe disease is an orphan disease for which enzyme replacement therapy (ERT) recently became available. This study aims to estimate all relevant aspects of burden of illness—societal costs, use of home care and informal care, productivity losses, and losses in health-related quality of life (HRQoL)—for adult Pompe patients only receiving supportive care. Methods We collected data on all relevant aspects of burden of illness via a questionnaire. We applied a societal perspective in calculating costs. The EQ-5D was used to estimate HRQoL. Results Eighty adult patients (87% of the total Dutch adult Pompe population) completed a questionnaire. Disease severity ranged from mild to severe. Total annual costs were estimated at €22,475 (range €0–169,539) per adult Pompe patient. Patients on average received 8 h of home care and 19 h of informal care per week. Eighty-five percent of the patients received informal care from one or more caregivers; 40% had stopped working due to their disease; another 20% had reduced their working hours. HRQoL for Pompe patients who only received supportive care was estimated at 0.72, 17% lower than the Dutch population at large. Conclusions Adult Pompe disease is associated with a considerable burden of illness at both the societal and patient levels. The disease leads to substantial costs and dependency on medical devices, home care, and informal care, and has a high impact on the patient’s social network. In addition, patients are limited in their ability to work and have significantly reduced HRQoL.

• Publisher: Springer Netherlands,Springer,Blackwell Publishing Ltd
• Subject: Absenteeism / Adult / Aged / Biochemistry / Biological and medical sciences / Cost of Illness / Efficiency / Employment - statistics & numerical data / Female / Follow-Up Studies / Glycogen Storage Disease Type II - economics / Glycogen Storage Disease Type II - epidemiology / Glycogen Storage Disease Type II - therapy / Health Care Costs / Hospitalization - economics / Hospitalization - statistics & numerical data / Human Genetics / Humans / Internal Medicine / Male / Medical genetics / Medical sciences / Medicine / Medicine & Public Health / Metabolic Diseases / Middle Aged / Original / Original Article / Palliative Care - economics / Palliative Care - methods / Pediatrics / Quality of Life / Surveys and Questionnaires