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

Anke Thümler1, Elke Miebach, Christina Lampe

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

Journal of Inherited Metabolic Disease
|March 24, 2012
PubMed
Abstract

Insights

Adult patients with mucopolysaccharidosis (MPS) VI, even with slow progression, experience significant morbidity affecting multiple organs. Early diagnosis and comprehensive management are crucial for these patients.

Area of Science:

  • Medical Genetics
  • Rare Diseases
  • Metabolic Disorders

Background:

  • Mucopolysaccharidosis (MPS) VI is a rare genetic disorder.
  • Adult patients with MPS VI often present with slowly progressing disease.
  • Understanding the clinical spectrum in adults is vital for management.

Purpose of the Study:

  • To evaluate the clinical features and general health status of adult patients diagnosed with MPS VI.
  • To identify common characteristics and severe morbidities in this population.

Main Methods:

  • Retrospective analysis of clinical data from adult MPS VI patients (≥18 years).
  • Inclusion of variables such as urinary glycosaminoglycan (uGAG) levels, mutation analysis, physical measurements, pulmonary function (FVC), endurance (6-minute walk test), cardiac function, and surgical interventions.
  • Data collected between September 2003 and October 2008.

Main Results:

  • Nine adult patients (19-29 years) with MPS VI were analyzed.
  • Patients exhibited reduced forced vital capacity (FVC), decreased endurance, cardiac valve abnormalities, and orthopedic issues.
  • High prevalence of corneal clouding, ENT interventions, and need for surgeries like craniocervical decompression were observed.

Conclusions:

  • Adult patients with slowly progressing MPS VI, despite an attenuated course, display significant multi-organ morbidity.
  • Disease manifestations are heterogeneous but share common characteristics.
  • Emphasizes the critical need for early diagnosis, consistent follow-up, and timely treatment.

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