Clinical Rheumatology

, Volume 26, Issue 3, pp 335–341

Rheumatologic aspects of lysosomal storage diseases

  • Bernhard Manger
  • Eugen Mengel
  • Roland M. Schaefer
Original Article

DOI: 10.1007/s10067-006-0299-x

Cite this article as:
Manger, B., Mengel, E. & Schaefer, R.M. Clin Rheumatol (2007) 26: 335. doi:10.1007/s10067-006-0299-x

Abstract

Lysosomal storage diseases are rare metabolic disorders, some of which can now be treated using enzyme replacement therapies. Because the time point of treatment initiation significantly influences the outcome in Gaucher disease, Fabry disease, and mucopolysaccharidosis type I, early diagnosis is of utmost importance. All three disorders can present with musculoskeletal symptoms in early stages, therefore, the rheumatologist may be the first to be contacted by these patients. Here, we present three characteristic lysosomal storage disease cases to increase awareness in the rheumatological community of the typical symptom constellations associated with these rare but treatable disorders.

Keywords

Fabry diseaseGaucher diseaseLysosomal storage diseasesMucopolysaccharidosis I

Copyright information

© Clinical Rheumatology 2006

Authors and Affiliations

  • Bernhard Manger
    • 1
  • Eugen Mengel
    • 2
  • Roland M. Schaefer
    • 3
  1. 1.Department of Medicine III, Institute for Clinical Immunology and RheumatologyFriedrich-Alexander-University Erlangen-NurnbergErlangenGermany
  2. 2.Centre for Lysosomal Storage DisordersChildren’s HospitalMainzGermany
  3. 3.Department of Internal Medicine DUniversity of MuensterMuensterGermany