Original Article

Clinical Rheumatology

, Volume 26, Issue 3, pp 335-341

First online:

Rheumatologic aspects of lysosomal storage diseases

  • Bernhard MangerAffiliated withDepartment of Medicine III, Institute for Clinical Immunology and Rheumatology, Friedrich-Alexander-University Erlangen-Nurnberg Email author 
  • , Eugen MengelAffiliated withCentre for Lysosomal Storage Disorders, Children’s Hospital
  • , Roland M. SchaeferAffiliated withDepartment of Internal Medicine D, University of Muenster

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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.


Fabry disease Gaucher disease Lysosomal storage diseases Mucopolysaccharidosis I