Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe

  • Julio López-BastidaEmail author
  • Renata Linertová
  • Juan Oliva-Moreno
  • Manuel Posada-de-la-Paz
  • Pedro Serrano-Aguilar
  • Panos Kanavos
  • Domenica Taruscio
  • Arrigo Schieppati
  • Georgi Iskrov
  • Petra Baji
  • Claudia Delgado
  • Johann Matthias Graf von der Schulenburg
  • Ulf Persson
  • Karine Chevreul
  • Giovanni Fattore
  • The BURQOL-RD Research Network
Original Paper



The aim of this study was to determine the economic burden from a societal perspective and health-related quality of life (HRQOL) of patients with Prader-Willi syndrome (PWS) in Europe.


We conducted a cross-sectional study of patients with PWS from Spain, Bulgaria, Hungary, Germany, Italy, the UK, Sweden and France. Data on demographic characteristics, healthcare resource utilisation, informal care, labour productivity losses and HRQOL were collected from questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D) questionnaire.


A total of 261 patients completed the questionnaire. The average annual costs ranged from € 3937 to € 67,484 between countries; the reference year for unit prices was 2012. Direct healthcare costs ranged from € 311 to € 18,760, direct non-healthcare costs ranged from € 1269 to € 44,035, and loss of labour productivity ranged from € 0 to € 2255. Costs were also shown to differ between children and adults. The mean EQ-5D index score for adult PWS patients ranged between 0.40 and 0.81 and the mean EQ-5D visual analogue scale score ranged between 51.25 and 90.00.


The main strengths of this study lie in our bottom-up approach to costing and in the evaluation of PWS patients from a broad societal perspective. This type of analysis is very scarce in the international literature on rare diseases in comparison with other illnesses. We conclude that PWS patients incur considerable societal costs and experience substantial deterioration in HRQOL.


Prader-Willi syndrome Cost of illness Health-related quality of life Economic burden 



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 Enfermedades Raras (FEDER), Spain; Rare Disease UK and Rare Diseases Europe (EURORDIS); Association Prader-Willi France; Prader Willi Syndrom Vereinigung Deutschland e.V., Germany; Klub a Prader-Willi Gyermekekért, Hungary; F.A.P.W. Federazione fra le associazioni per l’aiuto sai soggetti con la sindrome di Prader Willi e le loro famiglie, Italy; Asociación Española para el Síndrome de Prader-Willi and Asociación Valenciana, Catalana y Andaluza de Prader Willi, Spain; Prader-Willi Syndrome Association, UK.

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.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Supplementary material

10198_2016_788_MOESM1_ESM.docx (16 kb)
Supplementary material 1 (DOCX 16 kb)
10198_2016_788_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

  • Julio López-Bastida
    • 1
    • 2
    Email author
  • Renata Linertová
    • 2
    • 3
  • Juan Oliva-Moreno
    • 2
    • 4
  • Manuel Posada-de-la-Paz
    • 5
  • Pedro Serrano-Aguilar
    • 2
    • 6
  • Panos Kanavos
    • 7
  • Domenica Taruscio
    • 8
  • Arrigo Schieppati
    • 9
  • Georgi Iskrov
    • 10
    • 11
  • Petra Baji
    • 12
  • Claudia Delgado
    • 13
  • Johann Matthias Graf von der Schulenburg
    • 14
  • Ulf Persson
    • 15
  • Karine Chevreul
    • 16
    • 17
    • 18
  • Giovanni Fattore
    • 19
  • The BURQOL-RD Research Network
  1. 1.University of Castilla-La ManchaTalavera de la Reina, ToledoSpain
  2. 2.Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC)MadridSpain
  3. 3.Canary Islands Foundation for Health Research (FUNCANIS)Las Palmas de Gran CanariaSpain
  4. 4.University of Castilla-La ManchaToledoSpain
  5. 5.Institute of Rare Diseases Research (IIER)Spain RDR and CIBERERMadridSpain
  6. 6.Evaluation and Planning Service at Canary Islands Health ServiceSanta Cruz de TenerifeSpain
  7. 7.London School of Economics and Political Science-Health Research CentreLondonUK
  8. 8.National Center for Rare DiseasesIstituto superiore di sanità (ISS)RomeItaly
  9. 9.Centro di Ricerche Cliniche per Malattie Rare Aldo e Cele DaccòIstituto di Ricerche Farmacologiche Mario NegriBergamoItaly
  10. 10.Institute of Rare DiseasesPlovdivBulgaria
  11. 11.Department of Social Medicine and Public Health, Faculty of Public HealthMedical University of PlovdivPlovdivBulgaria
  12. 12.Department of Health EconomicsCorvinus University of BudapestBudapestHungary
  13. 13.Federación Española de Enfermedades Raras (FEDER)MadridSpain
  14. 14.Centre for Health Economics/Institute for Risk and InsuranceLeibniz UniversityHannoverGermany
  15. 15.The Swedish Institute for Health EconomicsLundSweden
  16. 16.URC Eco Ile de FranceAP-HPParisFrance
  17. 17.Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123ParisFrance
  18. 18.INSERM, ECEVE, U1123ParisFrance
  19. 19.Centre for Research on Health and Social Care (CERGAS)Bocconi UniversityMilanItaly

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