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

  • Márta PéntekEmail author
  • László Gulácsi
  • Valentin Brodszky
  • Petra Baji
  • Imre Boncz
  • Gábor Pogány
  • Julio López-Bastida
  • Renata Linertová
  • Juan Oliva-Moreno
  • Pedro Serrano-Aguilar
  • Manuel Posada-de-la-Paz
  • Domenica Taruscio
  • Georgi Iskrov
  • Arrigo Schieppati
  • Johann Matthias Graf von der Schulenburg
  • Panos Kanavos
  • Karine Chevreul
  • Ulf Persson
  • Giovanni Fattore
  • BURQOL-RD Research Network
Original Paper



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.


Mucopolysaccharidosis Health-related quality of life Cost-of-illness Caregiver EQ-5D 

JEL Classification




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.

Compliance with ethical standards


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.

Conflict of interest

The authors declare that they have no conflicts of interest.

Supplementary material

10198_2016_787_MOESM1_ESM.docx (16 kb)
Supplementary material 1 (DOCX 16 kb)
10198_2016_787_MOESM2_ESM.doc (41 kb)
Supplementary material 2 (DOC 41 kb)


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Márta Péntek
    • 1
    Email author
  • László Gulácsi
    • 1
  • Valentin Brodszky
    • 1
  • Petra Baji
    • 1
  • Imre Boncz
    • 2
  • Gábor Pogány
    • 3
  • Julio López-Bastida
    • 4
    • 5
  • Renata Linertová
    • 5
    • 6
  • Juan Oliva-Moreno
    • 5
    • 7
  • Pedro Serrano-Aguilar
    • 5
    • 8
  • Manuel Posada-de-la-Paz
    • 9
  • Domenica Taruscio
    • 10
  • Georgi Iskrov
    • 11
    • 12
  • Arrigo Schieppati
    • 13
  • Johann Matthias Graf von der Schulenburg
    • 14
  • Panos Kanavos
    • 15
  • Karine Chevreul
    • 16
    • 17
    • 18
  • Ulf Persson
    • 19
  • Giovanni Fattore
    • 20
  • BURQOL-RD Research Network
  1. 1.Department of Health EconomicsCorvinus University of BudapestBudapestHungary
  2. 2.Institute for Health Insurance, University of PécsPécsHungary
  3. 3.Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ)BudapestHungary
  4. 4.University of Castilla-La ManchaTalavera de la ReinaSpain
  5. 5.Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC)MadridSpain
  6. 6.Fundación Canaria de Investigación Sanitaria (FUNCANIS)Las Palmas de Gran CanariaSpain
  7. 7.University of Castilla-La ManchaToledoSpain
  8. 8.Evaluation and Planning Service at Canary Islands Health ServiceSanta Cruz de TenerifeSpain
  9. 9.Institute of Rare Diseases Research, ISCIII, SpainRDR & CIBERERMadridSpain
  10. 10.National Centre for Rare Diseases, Istituto Superiore di Sanità (ISS)RomeItaly
  11. 11.Institute of Rare DiseasesPlovdivBulgaria
  12. 12.Department of Social Medicine and Public Health, Faculty of Public HealthMedical University of PlovdivPlovdivBulgaria
  13. 13.Centro di Ricerche Cliniche per Malattie Rare Aldo e Cele Daccò, Istituto di Ricerche Farmacologiche Mario NegriRanica (Bergamo)Italy
  14. 14.Centre for Health Economics Research Hannover (CHERH)Leibniz Universität HannoverHannoverGermany
  15. 15.Department of Social Policy and LSE HealthLondon School of Economics and Political ScienceLondonUK
  16. 16.URC Eco Ile de France, AP-HP, Hôtel DieuParisFrance
  17. 17.Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123ParisFrance
  18. 18.INSERM, ECEVE, U1123ParisFrance
  19. 19.The Swedish Institute for Health EconomicsLundSweden
  20. 20.Centre for Research on Health and Social Care Management (CERGAS)Bocconi UniversityMilanItaly

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