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Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Objective

To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI.

Methods

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.

Results

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.

Conclusions

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.

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Acknowledgments

The authors are grateful to Ismar Healthcare NV for their assistance in writing of the manuscript, which was funded by BioMarin Europe Ltd.

Competing interests

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.

Funding

The preparation of this manuscript was supported by BioMarin Europe Ltd.

Author information

Authors and Affiliations

  1. Department of Psychiatry, University of Mainz, Mainz, Germany

    Anke Thümler

  2. Villa Metabolica, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany

    Elke Miebach, Christina Lampe & Eugen Mengel

  3. Department of Ophthalmology, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany

    Susanne Pitz

  4. Children’s Hospital Evangelisches Krankenhaus Hamm, Hamm, Germany

    Wolfgang Kamin

  5. Department of Cardiology, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany

    Christoph Kampmann

  6. Division of Metabolism, Connective Tissue Unit, University Children’s Hospital, Zurich, Switzerland

    Bianca Link

  7. Department of Pediatrics, Langenbeckstr. 4, 55101, Mainz, Germany

    Eugen Mengel

Authors
  1. Anke Thümler
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  2. Elke Miebach
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  3. Christina Lampe
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  4. Susanne Pitz
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  5. Wolfgang Kamin
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  6. Christoph Kampmann
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  7. Eugen Mengel
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Corresponding author

Correspondence to Eugen Mengel.

Additional information

Communicated by: Ed Wraith

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Thümler, A., Miebach, E., Lampe, C. et al. Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. J Inherit Metab Dis 35, 1071–1079 (2012). https://doi.org/10.1007/s10545-012-9474-1

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  • DOI: https://doi.org/10.1007/s10545-012-9474-1

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