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Socio-economic burden of rare diseases: A systematic review of cost of illness evidence

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  • Angelis, Aris
  • Tordrup, David
  • Kanavos, Panos

Abstract

Cost-of-illness studies, the systematic quantification of the economic burden of diseases on the individual and on society, help illustrate direct budgetary consequences of diseases in the health system and indirect costs associated with patient or carer productivity losses. In the context of the BURQOL-RD project (“Social Economic Burden and Health-Related Quality of Life in patients with Rare Diseases in Europe”) we studied the evidence on direct and indirect costs for 10 rare diseases (Cystic Fibrosis [CF], Duchenne Muscular Dystrophy [DMD], Fragile X Syndrome [FXS], Haemophilia, Juvenile Idiopathic Arthritis [JIA], Mucopolysaccharidosis [MPS], Scleroderma [SCL], Prader-Willi Syndrome [PWS], Histiocytosis [HIS] and Epidermolysis Bullosa [EB]). A systematic literature review of cost of illness studies was conducted using a keyword strategy in combination with the names of the 10 selected rare diseases. Available disease prevalence in Europe was found to range between 1 and 2 per 100,000 population (PWS, a sub-type of Histiocytosis, and EB) up to 42 per 100,000 population (Scleroderma). Overall, cost evidence on rare diseases appears to be very scarce (a total of 77 studies were identified across all diseases), with CF (n=29) and Haemophilia (n=22) being relatively well studied, compared to the other conditions, where very limited cost of illness information was available. In terms of data availability, total lifetime cost figures were found only across four diseases, and total annual costs (including indirect costs) across five diseases. Overall, data availability was found to correlate with the existence of a pharmaceutical treatment and indirect costs tended to account for a significant proportion of total costs. Although methodological variations prevent any detailed comparison between conditions and based on the evidence available, most of the rare diseases examined are associated with significant economic burden, both direct and indirect.

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  • Angelis, Aris & Tordrup, David & Kanavos, Panos, 2015. "Socio-economic burden of rare diseases: A systematic review of cost of illness evidence," Health Policy, Elsevier, vol. 119(7), pages 964-979.
    • Handle: RePEc:eee:hepoli:v:119:y:2015:i:7:p:964-979
    DOI: 10.1016/j.healthpol.2014.12.016
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    1. Linertová, Renata & Serrano-Aguilar, Pedro & Posada-de-la-Paz, Manuel & Hens-Pérez, Manuel & Kanavos, Panos & Taruscio, Domenica & Schieppati, Arrigo & Stefanov, Rumen & Péntek, Márta & Delgado, Claud, 2012. "Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study," Health Policy, Elsevier, vol. 108(1), pages 19-26.
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    3. Rosenberg, T. & Jacobs, H.K. & Thompson, R. & Horne, J.M., 1993. "Cost-effectiveness of neonatal screening for Duchenne muscular dystrophy--How does this compare to existing neonatal screening for metabolic disorders?," Social Science & Medicine, Elsevier, vol. 37(4), pages 541-547, August.
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    1. Valentin Brodszky & Zsuzsanna Beretzky & Petra Baji & Fanni Rencz & Márta Péntek & Alexandru Rotar & Konstantin Tachkov & Susanne Mayer & Judit Simon & Maciej Niewada & Rok Hren & László Gulácsi, 2019. "Cost-of-illness studies in nine Central and Eastern European countries," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 20(1), pages 155-172, June.
    2. Julio López-Bastida & Renata Linertová & Juan Oliva-Moreno & Manuel Posada-de-la-Paz & Pedro Serrano-Aguilar & Panos Kanavos & Domenica Taruscio & Arrigo Schieppati & Georgi Iskrov & Petra Baji & Clau, 2016. "Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 17(1), pages 99-108, April.
    3. Aris Angelis & Panos Kanavos & Julio López-Bastida & Renata Linertová & Juan Oliva-Moreno & Pedro Serrano-Aguilar & Manuel Posada-de-la-Paz & Domenica Taruscio & Arrigo Schieppati & Georgi Iskrov & Va, 2016. "Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 17(1), pages 31-42, April.
    4. Beata Gavurova & Miriama Tarhanicova, 2021. "Methods for Estimating Avoidable Costs of Excessive Alcohol Consumption," IJERPH, MDPI, vol. 18(9), pages 1-25, May.
    5. Julio López-Bastida & Renata Linertová & Juan Oliva-Moreno & Pedro Serrano-Aguilar & Manuel Posada-de-la-Paz & Panos Kanavos & Domenica Taruscio & Arrigo Schieppati & Georgi Iskrov & Márta Péntek & Cl, 2016. "Social/economic costs and health-related quality of life in patients with scleroderma in Europe," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 17(1), pages 109-117, April.
    6. Márta Péntek & 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-Pa, 2016. "Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 17(1), pages 89-98, April.
    7. A. Kuhlmann & T. Schmidt & M. Treskova & J. López-Bastida & R. Linertová & J. Oliva-Moreno & P. Serrano-Aguilar & M. Posada-de-la-Paz & P. Kanavos & D. Taruscio & A. Schieppati & G. Iskrov & M. Péntek, 2016. "Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 17(1), pages 79-87, April.
    8. Nicod, Elena & Annemans, Lieven & Bucsics, Anna & Lee, Anne & Upadhyaya, Sheela & Facey, Karen, 2019. "HTA programme response to the challenges of dealing with orphan medicinal products: Process evaluation in selected European countries," Health Policy, Elsevier, vol. 123(2), pages 140-151.

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