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Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world
Author(s) -
MuñozRojas María Verónica,
Bay Luisa,
Sanchez Luz,
Kuijck Marcel,
Ospina Sandra,
Cabello Juan Francisco,
Martins Ana Maria
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9336-2
Subject(s) - hurler syndrome , mucopolysaccharidosis type i , medicine , enzyme replacement therapy , mucopolysaccharidosis i , newborn screening , inborn error of metabolism , mucopolysaccharidosis , clinical phenotype , pediatrics , transplantation , age of onset , disease , phenotype , biology , genetics , gene
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.