Zusammenfassung
Die lysosomalen Speichererkrankungen Morbus Gaucher, Morbus Fabry und MPS I zählen zu den seltenen erblichen Stoffwechselerkrankungen, die durch eine Enzymersatztherapie heute behandelbar sind. Damit durch eine frühzeitige Therapie sonst irreversible Komplikationen verhindern werden können, ist eine rechtzeitige Diagnosestellung wichtig. Weil Patienten mit diesen Speichererkrankungen wegen Symptomen von Seiten des muskuloskelettalen Systems nicht selten einen Rheumatologen aufsuchen können, sollte dieser die Symptome dieser seltenen Erkrankungen erkennen und einordnen können. Anhand von Kasuistiken zu M. Gaucher, M. Fabry und MPS I (hier M. Scheie) werden die Schlüsselsymptome diskutiert, die der Rheumatologe (Internist oder Pädiater) für die differenzialdiagnostische Abklärung dieser Patienten kennen sollte. Zusätzlich werden – neben einer kurzen Einführung in die Pathophysiologie – Hinweise zur Prognose und Therapie gegeben.
Summary
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.
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Manger, B., Mengel, E., Schaefer, R.M. et al. M. Gaucher, M. Fabry und Mukopolysaccharidose Typ I. Z. Rheumatol. 65, 32–44 (2006). https://doi.org/10.1007/s00393-006-0039-2
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DOI: https://doi.org/10.1007/s00393-006-0039-2