title: Rheumatologic aspects of lysosomal storage diseases.
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.
authors: Department of Medicine III, Institute for Clinical Immunology and Rheumatology, Friedrich-Alexander-University Erlangen-Nurnberg, Krankenhausstrasse 12, 91054, Erlangen, Germany. bernhard.manger@med3.imed.uni-erlangen.de
authors: Bernhard
authors: B
authors: Manger
authors: Eugen
authors: E
authors: Mengel
authors: Roland M
authors: RM
authors: Schaefer