Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).
OBJECTIVE
Enzyme therapy for lysosomal storage disorders directed at correcting the underlying cause of disease represents the most significant recent advance in patient management. This review focuses on two disease groups: glycosphingolipidoses and mucopolysaccharidoses. Specifically, Gaucher disease and Hurler-Scheie syndrome have been selected as the prototypical disorder for each respective class.


RESULTS
Musculoskeletal complications are encountered in several of the lysosomal storage disorders and often represent a major source of extraneurologic morbidity, particularly in the subacute or chronic variants. Enzyme therapy has led to improvements in physical and functional well-being. However, bone involvement remains a recalcitrant feature, especially among patients with established disease before institution of therapy.


CONCLUSIONS
Early diagnosis and appropriate timely intervention are critical in achieving the best therapeutic results. A better understanding of the fundamental mechanisms of bone pathology may enable the identification of complementary approaches (eg, the use of bisphosphonates for severe osteopenia) for optimized outcomes. Symptomatic care and rigorous physical and occupational therapy remain critical components of a comprehensive management approach.
Pastores
Gregory M
GM
Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York 10016, USA. Gregory.pastores@med.nyu.edu
Meere
Patrick A
PA
D001847:Bone Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D001842:Bone and Bones / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology