PubMed · 1749657
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J L Goldner, R D Fitch. 1991. Growing pains.. https://pubmed.ncbi.nlm.nih.gov/1749657/
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PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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. SUMMARY: 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.
PURPOSE OF REVIEW: Much of our education about endocrine disorders focuses on their diagnosis and treatment. Although the musculoskeletal manifestations of endocrine disorders are well documented, they are often overlooked. This review will discuss new developments regarding those rheumatic manifestations. RECENT FINDINGS: Diabetic research is investigating connective tissue alterations in hand syndromes. A recent review elucidated the natural history of diabetic muscle infarction. Research has identified factors that stimulate osteoblast activity in diffuse idiopathic skeletal hyperostosis and bone loss in diabetics. Accumulating evidence documents thyroid disease coexisting with connective tissue disorders. Reports document cases of vasculitis occurring after propylthiouracil treatment. Finally, data clarifies the effects of thyroid dysfunction, hyperparathyroidism, acromegaly and hypercortisolism on bone. SUMMARY: Current research mainly relates to the effects of endocrine disorders on bone. As we advance our understanding of mechanisms that lead to rheumatic disorders in endocrine disease, we will improve our ability to treat them.