[Gaucher disease, Fabry disease and mucopolysaccharidosis type I--how can the rheumatologist recognise these patients?].
The lysosomal storage diseases Gaucher disease, Fabry disease and MPS I are rare inheritable metabolic disorders that are now treatable with enzyme replacement therapy. In order to avoid irreversible complications, an early diagnosis and initiation of therapy is important. Due to the musculoskeletal symptoms associated with these storage diseases, patients are likely to visit a rheumatologist, who should, therefore, be able to recognise and diagnose these rare diseases. On the basis of the causal factors behind Gaucher disease, Fabry disease und MPS I (here Scheie syndrome), key symptoms that the rheumatologist (internist or paediatrician) should be familiar with for the differential diagnosis of these patients will be discussed. In addition, a short introduction to the pathophysiology and data on the prognosis and therapy for these diseases will be presented.
Universität Erlangen-Nürnberg, Medizinische Klinik III, Erlangen. bernhard.manger@med3.imed.uni-erlangen.de
B
B
Manger
E
E
Menge
R
R
Schaefer
C
C
Haase
J
J
Seidel
H
H
Michels
D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D005776:Gaucher Disease / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D017410:Practice Guidelines as Topic; D010818:Practice Patterns, Physicians'; D012219:Rheumatology / Q000379:methods*