prikaz prve stranice dokumenta The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
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Scientific paper - Original scientific paper
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
Orphanet Journal of Rare Diseases, 17 (2022), 1; 136. https://doi.org/10.1186/s13023-022-02285-x
Tylki-Szymańska, Anna; Almássy, Zsuzsanna; Christophidou-Anastasiadou, Violetta; Avdjieva-Tzavella, Daniela; Barišić, Ingeborg; Cerkauskiene, Rimante; Cuturilo, Goran; Djiordjevic, Maja; Gucev, Zoran; Hlavata, Anna; Kieć-Wilk, Beata; Magner, Martin; Pećin, Ivan; Plaiasu, Vasilica; Samardzic, Mira; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina More authors...

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Tylki Szymańska, A., Almássy, Z., Christophidou Anastasiadou, V., Avdjieva Tzavella, D., Barišić, I., Cerkauskiene, R. ... Lampe, C. (2022). The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers. Orphanet Journal of Rare Diseases, 17. (1). doi: 10.1186/s13023-022-02285-x

Tylki Szymańska, Anna, et al. "The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers." Orphanet Journal of Rare Diseases, vol. 17, no. 1, 2022. https://doi.org/10.1186/s13023-022-02285-x

Tylki Szymańska, Anna, Zsuzsanna Almássy, Violetta Christophidou Anastasiadou, Daniela Avdjieva Tzavella, Ingeborg Barišić, Rimante Cerkauskiene, Goran Cuturilo, et al. "The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers." Orphanet Journal of Rare Diseases 17, no. 1 (2022). https://doi.org/10.1186/s13023-022-02285-x

Tylki Szymańska, A., et al. (2022) 'The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers', Orphanet Journal of Rare Diseases, 17(1). doi: 10.1186/s13023-022-02285-x

Tylki Szymańska A, Almássy Z, Christophidou Anastasiadou V, Avdjieva Tzavella D, Barišić I, Cerkauskiene R, and sur.. The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers. Orphanet Journal of Rare Diseases [Internet]. 2022 March 24 [cited 2024 December 24];17(1). doi: 10.1186/s13023-022-02285-x

A. Tylki Szymańska, et al., "The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers", Orphanet Journal of Rare Diseases, vol. 17, no. 1, March 2022. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:576120. [Accessed: 24 December 2024]

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Metadata
Title (english)The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
AuthorAnna Tylki-Szymańska
AuthorZsuzsanna Almássy
AuthorVioletta Christophidou-Anastasiadou
AuthorDaniela Avdjieva-Tzavella
AuthorIngeborg Barišić
AuthorRimante Cerkauskiene
AuthorGoran Cuturilo
AuthorMaja Djiordjevic
AuthorZoran Gucev
AuthorAnna Hlavata
AuthorBeata Kieć-Wilk
AuthorMartin Magner
AuthorIvan Pećin
AuthorVasilica Plaiasu
AuthorMira Samardzic
AuthorDimitrios Zafeiriou
AuthorIoannis Zaganas
AuthorChristina Lampe
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract (english)
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients. The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the picture of disease management in the region and understand ERT implementation. Since the considerable number of MPS IVA patients in the region, particularly adults, the study mainly focused on MPS IVA management and treatment. ----- Results: 19 experts from 14 Southern and Eastern European countries in total responded to the survey. Results outlined a picture of MPS management in the region, with a high number of MPS patients managed in the centers and a high level of care. MPS II was the most prevalent followed by MPS IVA, with a particular high number of adult patients. The study particularly focused on management and treatment of MPS IVA patients. Adherence to current European Guidelines for follow-up of MPS IVA patients is generally adequate, although some important assessments are reported as difficult due to the lack of MPS skilled specialists. Availability of ERT in Southern and Eastern European countries is generally in line with other European regions, even though regulatory, organizational and reimbursement constrains are demanding. ----- Conclusions: The landscape of MPS in Southern and Eastern European countries is generally comparable to that of other European regions, regarding epidemiology, treatment accessibility and follow up difficulties. However, issues limiting ERT availability and reimbursement should be simplified, to start treatment as early as possible and make it available for more patients. Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleOrphanet Journal of Rare Diseases
Numberingvol. 17, no. 1, 136
e-ISSN1750-1172
DOIhttps://doi.org/10.1186/s13023-022-02285-x
URN:NBNurn:nbn:hr:105:576120
Publication2022-03-24
Document URLhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02285-x
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2022-09-26 09:33:48