Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series
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To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI.
This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between September 2003 and October 2008 at the Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Germany. Variables included were urinary glycosaminoglycan (uGAG) level, mutation analysis, body height, forced vital capacity (FVC), 6-minute walk test, echocardiographic findings, the need for craniocervical decompression surgery, orthopaedic findings and ophthalmological assessments.
The analysis included nine patients with MPS VI aged 19-29 years. The median age at diagnosis was 12 (range 6–20) years. At the time of the assessment (median age 25 years), median uGAG was 29 (range 15-149) μg/mg creatinine and median height 152 (range 136–161) cm. All patients had a FVC below standard values, seven showed reduced endurance in the 6-minute-walk test, all had valve changes with valve replacement in three, two underwent craniocervical decompression surgery, two underwent carpal tunnel surgery, five had ear/nose/throat (ENT) interventions, seven had hip pain/dysplasia, seven had corneal clouding and two were visually impaired.
Although patients with slowly progressing MPS VI are a heterogeneous group showing disease manifestations in several organs, they seem to have some typical characteristics in common. Despite the attenuated clinical course, many of these patients show severe morbidity. Therefore, early diagnosis and proper follow-up and treatment are essential.
The authors are grateful to Ismar Healthcare NV for their assistance in writing of the manuscript, which was funded by BioMarin Europe Ltd.
Dr. Elke Miebach has received travel expenses and speakers fees for scientific meetings by BioMarin Pharmaceutical Inc., Genzyme Corp. and Shire, Inc., Dr. Christina Lampe has received travel expenses and speakers fees for scientific meetings by BioMarin, Shire Inc. and Genzyme. Prof. Susanne Pitz has received travel and research grants from BioMarin, Genzyme and Shire, Inc., Dr. Wolfgang Kamin and Dr. Christoph Kampmann have received travel and research grants as well as speakers fees for scientific meetings by BioMarin, Genzyme and Shire Inc., Dr. Bianca Link has received travel and research grants as well as honoraria for scientific presentations from BioMarin, Genzyme and Shire Inc. Dr. Eugen Mengel received speakers fee and research grants from Genzyme and Shire, he acts as consultant for BioMarin respective MPS IV. Dr. Anke Thümler has no conflict of interest.
The preparation of this manuscript was supported by BioMarin Europe Ltd.
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