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Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe

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To assess the health-related quality of life (HRQOL) of patients with mucopolysaccharidosis (MPS) and their caregivers and to quantify the disease-related costs from a societal perspective.


In the context of a multi-country study of rare diseases (BURQOL-RD project), a cross-sectional survey was performed among MPS patients in seven European countries. Data on demographic characteristics, health resource utilization, informal care, and loss of labor productivity were collected. The EQ-5D, Barthel index (BI), and Zarit burden interview (ZBI) questionnaires were used to assess patients’ and their informal caregivers’ quality of life, patients’ functional ability, and caregivers’ burden, respectively.


Altogether, 120 patients (children 62 %, females 40 %) and 66 caregivers completed the questionnaire. Patients’ mean age was 16.5 years and median age at diagnosis was 3 years. Adult patients’ average EQ-5D and EQ VAS scores varied across countries from 0.13 to 0.43 and 30.0 to 62.2, respectively, mean BI was 46.7, and ZBI was 32.7. Mean informal care time was 51.3 h/week. The mean total annual cost per patient (reference year 2012) was €24,520 in Hungary, €25,993 in France, €84,921 in Italy, €94,384 in Spain, and €209,420 in Germany. Costs are also shown to differ between children and adults. Direct costs accounted for most of the costs in all five countries (80, 100, 99, 98, and 93 %, respectively).


MPS patients experience substantial loss of HRQOL and their families take a remarkable part in their care. Although utilization of health and social care resources varies significantly across countries, MPS incurs considerable societal costs in all the countries studied.

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The authors wish to thank: National Alliance of People with Rare Diseases (NAPRD), Bulgaria; Alliance Maladies Rares, France; ACHSE, Germany; Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ), Hungary; Federazione Italiana Malattie Rare (UNIAMO), Italy; the Consulta Nazionale delle Malattie Rare, Italy; Rare Diseases Sweden; Federación Española de Efermedades Raras (FEDER), Spain; Rare Disease UK and Rare Diseases Europe (EURORDIS); National Mucopolysaccharidosis Association, Bulgaria; Gesellschaft für Mukopolysaccharidosen e.V., Germany; Magyar Mukopoliszaccharidózis Társaság, Hungary, A.I.MPSAssociazione italiana mucopolisaccaridosi e malattie affini, Italy; Asociación Española de las Mucopolisacaridosis y Síndromes Relacionados and Asociación Valenciana de Sanfilippo i altres mucopolisacaridosis, Spain.

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Correspondence to Márta Péntek.

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Supported by the Social/Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe Project, which received funding from the European Union within the framework of the Health Programme [Grant A101205]. The Executive Agency of the European Union is not responsible for any use that may be made of the information contained herein.

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The authors declare that they have no conflicts of interest.

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Members of the BURQOL-RD Research Network listed in Supplementary Annex 1.

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Péntek, M., Gulácsi, L., Brodszky, V. et al. Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe. Eur J Health Econ 17 (Suppl 1), 89–98 (2016).

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