title: Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary. marta.pentek@uni-corvinus.hu.
authors.forename: Márta
authors.initials: M
authors.lastname: Péntek
authors.affiliation: Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Gulácsi
authors.affiliation: Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary.
authors.forename: Valentin
authors.initials: V
authors.lastname: Brodszky
authors.affiliation: Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary.
authors.forename: Petra
authors.initials: P
authors.lastname: Baji
authors.affiliation: Institute for Health Insurance, University of Pécs, Pécs, Hungary.
authors.forename: Imre
authors.initials: I
authors.lastname: Boncz
authors.affiliation: Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ), Budapest, Hungary.
authors.forename: Gábor
authors.initials: G
authors.lastname: Pogány
authors.affiliation: University of Castilla-La Mancha, Talavera de la Reina, Toledo, Spain.|Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: López-Bastida
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|Fundación Canaria de Investigación Sanitaria (FUNCANIS), Las Palmas de Gran Canaria, Spain.
authors.forename: Renata
authors.initials: R
authors.lastname: Linertová
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|University of Castilla-La Mancha, Toledo, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Oliva-Moreno
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|Evaluation and Planning Service at Canary Islands Health Service, Santa Cruz de Tenerife, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Serrano-Aguilar
authors.affiliation: Institute of Rare Diseases Research, ISCIII, SpainRDR & CIBERER, Madrid, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada-de-la-Paz
authors.affiliation: National Centre for Rare Diseases, Istituto Superiore di Sanità (ISS), Rome, Italy.
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.affiliation: Institute of Rare Diseases, Plovdiv, Bulgaria.|Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.
authors.forename: Georgi
authors.initials: G
authors.lastname: Iskrov
authors.affiliation: Centro di Ricerche Cliniche per Malattie Rare Aldo e Cele Daccò, Istituto di Ricerche Farmacologiche Mario Negri, Ranica (Bergamo), Italy.
authors.forename: Arrigo
authors.initials: A
authors.lastname: Schieppati
authors.affiliation: Centre for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Germany.
authors.forename: Johann Matthias Graf
authors.initials: JM
authors.lastname: von der Schulenburg
authors.affiliation: Department of Social Policy and LSE Health, London School of Economics and Political Science, London, UK.
authors.forename: Panos
authors.initials: P
authors.lastname: Kanavos
authors.affiliation: URC Eco Ile de France, AP-HP, Hôtel Dieu, Paris, France.|Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123, Paris, France.|INSERM, ECEVE, U1123, Paris, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Chevreul
authors.affiliation: The Swedish Institute for Health Economics, Lund, Sweden.
authors.forename: Ulf
authors.initials: U
authors.lastname: Persson
authors.affiliation: Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Fattore
mesh_terms: D000293:Adolescent; D000328:Adult; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005060:Europe; D005260:Female; D017048:Health Care Costs / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009083:Mucopolysaccharidoses / Q000191:economics* / Q000523:psychology; D005791:Patient Care / Q000191:economics; D011788:Quality of Life; D018582:Sick Leave / Q000191:economics; D018434:Sickness Impact Profile; D012959:Socioeconomic Factors; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Caregiver; Cost-of-illness; EQ-5D; Health-related quality of life; Mucopolysaccharidosis