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Overview of the mucopolysaccharidoses

Joseph Muenzer1

  • 1Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. muenzer@med.unc.edu

Rheumatology (Oxford, England)
|January 3, 2012
PubMed

Insights

Mucopolysaccharidoses (MPSs) are rare genetic disorders affecting multiple organs. Early recognition by rheumatologists is crucial for timely diagnosis and improved outcomes for patients with these progressive lysosomal storage diseases.

Area of Science:

  • Genetics
  • Biochemistry
  • Rheumatology

Background:

  • Mucopolysaccharidoses (MPSs) are rare, inherited lysosomal storage disorders.
  • Characterized by progressive, multi-system abnormalities and reduced life expectancy.
  • Clinical manifestations include skeletal, joint, airway, cardiac, hearing, and vision issues, with severe forms causing intellectual disability.

Purpose of the Study:

  • To provide an overview of MPS clinical features.
  • To review current treatment options for MPS.
  • To assist rheumatologists in recognizing and diagnosing MPS.

Main Methods:

  • Literature review of MPS clinical features.
  • Summary of available treatment modalities.
  • Focus on the role of rheumatologists in early detection.

Main Results:

  • MPSs present with diverse and progressive clinical features.
  • Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy.
  • Skeletal and joint abnormalities are key indicators for rheumatologists.

Conclusions:

  • Early diagnosis and treatment of MPS can significantly improve patient outcomes.
  • Rheumatologists play a vital role in identifying MPS due to characteristic musculoskeletal involvement.
  • Increased awareness among rheumatologists can facilitate prompt diagnosis and referral for MPS patients.

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