Prevalence rates of mucopolysaccharidoses in Poland

Jurecka, Agnieszka; Ługowska, Agnieszka; Gołda, Adam; Czartoryska, Barbara; Tylki‐Szymańska, Anna

doi:10.1007/s13353-014-0262-5

Cited by 43 publications

(41 citation statements)

References 18 publications

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“…The live births registered in the Polish Bureau of statistics over a period of 4 decades were 21,686,890 from 1970 until 2010. A total of 392 cases were diagnosed with MPS to give a combined birth prevalence of 1.80 per 100,000 live births [13]. Electrophoresis method was used for the initial diagnosis of MPS which was based on the demonstration of accumulated GAGs in the body fluids.…”

Section: Birth Prevalence Of Mpsmentioning

confidence: 99%

Epidemiology of mucopolysaccharidoses

Khan

Peracha

Ballhausen³

et al. 2017

Molecular Genetics and Metabolism

320

239

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The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.

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Section: Birth Prevalence Of Mpsmentioning

confidence: 99%

Epidemiology of mucopolysaccharidoses

Khan

Peracha

Ballhausen³

et al. 2017

Molecular Genetics and Metabolism

320

239

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“…However, prevalence data on MPS varies substantially across Europe and diagnostic methods and patient characteristics are often poorly reported [7]. According to a review by Jurecka et al, the prevalence of MPS (all types) per 100,000 live births was 4.50 in the Netherlands, 3.72 in the Czech Republic, 3.53 in Germany, 3.08 in Norway, 1.77 in Denmark, 1.75 in Sweden, and 1.81 in Poland [8]. The European Medicines Agency (EMA) considers a 0.03/ 10,000 prevalence rate in the EU as accepted in the designation of specific drugs for MPS type I and 0.02/10,000 for MPS type II (Hunter syndrome) [9].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2016

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“…According to a review by Jurecka et al [46], the prevalence of MPS (all types) per 100,000 live births was 4.5 in the Netherlands, 3.7 in the Czech Republic, 3.5 in Germany, 3.1 in Norway, 1.8 in Denmark, 1.8 in Sweden and 1.8 in Poland. Pentek et al [47] estimated a mean yearly total cost per patient with MPS that ranged from €24,520 (Hungary) to €209,420 (Germany).…”

mentioning

confidence: 99%