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Comparative Study
. 2011 Oct;34(5):1029-37.
doi: 10.1007/s10545-011-9336-2. Epub 2011 May 4.

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world

María Verónica Muñoz-Rojas  1 , Luisa Bay, Luz Sanchez, Marcel van Kuijck, Sandra Ospina, Juan Francisco Cabello, Ana Maria Martins
Affiliations
Comparative Study

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world

María Verónica Muñoz-Rojas et al. J Inherit Metab Dis. 2011 Oct.

Abstract

Background: Mucopolysaccharidosis I (MPS I) comprises a spectrum of clinical manifestations and is divided into three phenotypes reflecting clinical severity: Hurler, Hurler-Scheie, and Scheie syndromes. There may be important variations in clinical manifestations of this genetic disease in patients residing in different regions of the world.

Methods: Using data from the MPS I Registry (as of September 2009), we evaluated patients from Latin America (n = 118) compared with patients from the rest of the world [ROW (n = 727)].

Results: Phenotype distribution differed among patients in Latin America compared to ROW (Hurler 31 vs. 62%, Hurler-Scheie 36 vs. 21%, Scheie 10 vs. 11%, and unknown 22 vs. 6%). The frequency of certain symptoms, such as cardiac valve abnormalities, sleep impairment, and joint contractures, also differed between Latin America and ROW for some phenotypes. Median age at MPS I diagnosis was earlier in the ROW than Latin America for all phenotypes, and age at first treatment for Hurler and Hurler-Scheie patients was also earlier in the ROW. Hurler patients in Latin America showed a gap of 3.1 years between median ages of diagnosis and first treatment compared to only 0.5 years in the ROW. Treatment allocation in Latin America compared to ROW was as follows: enzyme replacement therapy (ERT) only, 80 vs. 45%; hematopoietic stem cell transplantation (HSCT) only, 0.9 vs. 27%; both ERT and HSCT, 0 vs. 16%; and neither treatment, 19 vs. 13%.

Conclusion: These data highlight important differences in MPS I patients between Latin America and ROW in terms of phenotypic distribution, clinical manifestations, and treatment practices.

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Conflict of interest statement

The authors declare independence from the sponsors and declare that the content of the article has not been influenced by the sponsors.

Figures

Fig. 1
Fig. 1
Number of patients enrolled in MPS I Registry in Latin America by country and year
Fig. 2
Fig. 2
a MPS I phenotype distribution for Latin American patients and patients from the rest of the world (ROW). b Phenotype distribution of Latin American enrolled MPS I patients by country
Fig. 3
Fig. 3
Median age of symptom onset of MPS I–related symptoms, diagnosis, and treatment initiation by region and phenotype
Fig. 4
Fig. 4
Prevalence of MPS I–related symptoms by region and phenotype
Fig. 4
Fig. 4
Prevalence of MPS I–related symptoms by region and phenotype
Fig. 5
Fig. 5
Treatment status by MPS I phenotype and region
See this image and copyright information in PMC

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