MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

Federhen, Andressa; Batista, Carla de Cássia Cascaes; Burin, Maira Graeff; Leistner-Segal, Sandra; Matte, Úrsula; Rafaelli, Célio Luiz; Bender, Fernanda; Brusius, Ana Carolina; Pasqualim, Gabriela; Giugliani, Roberto

doi:10.1016/j.ymgme.2014.12.082

Cited by 5 publications

(8 citation statements)

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“…Brazil has a relatively high incidence of MPS VI (18.48% of all MPS) [132]. Moreover, Brazil had a higher birth prevalence of MPS VI (0.31) than most European countries but similar to Estonia, Tunisia, and West Australia [28]. There is a common mutation, 1533del23, among Brazilian MPS VI patients found in 23.1% of alleles, which also occurs in Portuguese MPS VI patients [111–116] that could reflect the high incidence of Brazilian MPS VI.…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of mucopolysaccharidoses

Khan

Peracha

Ballhausen³

et al. 2017

Molecular Genetics and Metabolism

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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: Discussionmentioning

confidence: 99%

Epidemiology of mucopolysaccharidoses

Khan

Peracha

Ballhausen³

et al. 2017

Molecular Genetics and Metabolism

Self Cite

308

239

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“…In Latin America, a study conducted in Colombia has tried to estimate the frequency of MPS in Latin America (Gómez, García-Robles, & Suárez-Obando, 2012). Federhen et al (2016) (MPS IV), 0.37 (MPS VI), 0.026 (MPS VII), and 0 (MPS IX) cases per 100,000 LBs (Giugliani et al, 2017). Although preliminary studies about the frequency of MPS in Brazil considering confirmed diagnosis are available, a more detailed study, focused only on MPS and including molecular aspects, is needed.…”

Section: Epidemiology Of Mpsmentioning

confidence: 99%

“…In Latin America, a study conducted in Colombia has tried to estimate the frequency of MPS in Latin America (Gómez, García‐Robles, & Suárez‐Obando, ). Federhen et al () reported preliminary data on the minimum estimated birth prevalence of MPS I, II, IVA, and VI, based on an analysis of 600 Brazilian patients registered at the MPS Brazil Network (MBN), born between 1994 and 2012. This preliminary analysis estimated the frequency as 0.24 (MPS I), 0.38 (MPS II), 0.11 (MPS IV), and 0.31 (MPS VI) cases per 100,000 LBs.…”

Section: Introductionmentioning

confidence: 99%

Estimated birth prevalence of mucopolysaccharidoses in Brazil

Federhen

Pasqualim

Freitas

et al. 2020

American J of Med Genetics Pt A

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Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS in Brazil. MPS diagnosis registered at MPS‐Brazil Network and in Instituto Vidas Raras were reviewed. BP was estimated by (a) the number of registered patients born between 1994 and 2015 was divided by the number of live births (LBs), and (b) a sample of 1,000 healthy individuals was tested for the most frequent variant in IDUA gene in MPS I (p.Trp402Ter) to estimate the frequency of heterozygosity and homozygosity. (a) The BP based on total number of LBs was (cases per 100,000 LBs): MPS overall: 1.25; MPS I: 0.24; MPS II: 0.37; MPS III: 0.21; MPS IV: 0.14; MPS VI: 0.28; MPS VII: 0.02. (b) The overall frequency of p.Trp402Ter was 0.002. Considering the frequency of heterozygotes for the p.Trp402Ter IDUA variant in the RS state, the frequency of this variant among MPS I patients and the relative frequency of the different MPSs, we estimated the birth prevalence of MPS in total and of each MPS type, as follows: MPS overall: 4.62; MPS I: 0.95; MPS II: 1.32; MPS III: 0.56; MPS IV: 0.57; MPS VI: 1.02; MPS VII: 0.05. This study provided original data about BP and relative frequency of the MPS types, in Brazil, based on the frequency of the commonest IDUA pathogenic variant and in the records of two large patient databases.

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“…1,2,3 In Brazil, 1069 individuals with MPS were identified between 2004 and 2013. 3,4 Some signs and symptoms are characteristic and common to different types of MPS, such as typical facies, excessive body hair growth, short stature, visual impairment, cardiopathy, sleep apnea, neurological problems, skeletal distention, corneal opacification, inguinal and abdominal hernias, enlarged liver and spleen, hearing impairment, respiratory problems, progressive joint limitation, enlarged tongue and abnormalities in the number and shape of the teeth. 1,2,5,6 The main oral problems described in individuals with MPS are abnormalities in the number and anatomy of the primary and permanent teeth, enamel defects (primary and permanent teeth), delayed eruption of permanent teeth, impacted teeth, diastema, malocclusion (especially anterior open bite and crossbite), protruding tongue, a lack of lip seal, mouth breathing, limited mouth opening, bruxism and dental caries.…”

Section: Introductionmentioning

confidence: 99%

Oral health-related quality of life of young people with mucopolysaccharidosis: a paired cross-sectional study

et al. 2020

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The purpose of the present study was to compare the perceptions of the parents/ caregivers of young people with and without Mucopolysaccharidosis (MPS) with regards to their oral health-related quality of life (OHRQoL). A cross-sectional study was conducted with 29 individuals with MPS and 29 normotypic individuals aged three to 21 years and their parents/caregivers. All parents/caregivers of young people with MPS in follow-up at two reference hospitals in the city of Belo Horizonte, southeastern Brazil, were invited to participate in the study. Individuals without MPS were recruited from the pediatric clinics of both hospitals. Parents/caregivers answered a structured questionnaire addressing the sociodemographic characteristics, behavioral habits and medical and dental history of the children as well as the Brazilian shortform version of the Parental-Caregiver (P-CPQ). The individuals with and without MPS were examined for malocclusion, dental caries and oral hygiene by an examiner who had undergone training and calibration exercises. Mean age of the subjects was 12.1 years (± 4.2). Comparing total P-CPQ scores and scores on the oral symptoms, functional limitations and wellbeing domains, the parents/caregivers individuos with MPS reported a statistically significant greater negative impact on OS domain than their counterparts. Regarding the clinical variables, malocclusion was also associated a greater negative impact on OHRQoL of young people with MPS when compared to those of young people without MPS. Our findings show the great negative impact caused by the malocclusion of young people with MPS.

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MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

Cited by 5 publications

References 0 publications

Epidemiology of mucopolysaccharidoses

Epidemiology of mucopolysaccharidoses

Estimated birth prevalence of mucopolysaccharidoses in Brazil

Oral health-related quality of life of young people with mucopolysaccharidosis: a paired cross-sectional study

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