Osseous manifestations of XXXX in the era of enzyme replacement therapy.

@entity1 @entity11602 @entity174 @entity75 @entity4034 @entity1503 @entity3913 @entity1120 @entity158 @entity85 @entity1141 @entity2530
Enzyme replacement therapy (ERT) for @entity1120 with @entity3913 -terminated glucocerebrosidase has proved its therapeutic position with salutary effects on @entity1503 , visceral infiltration, and quality of life. The frequency of new bone complications is reduced but not eliminated. Established @entity2530 is beyond salvage. A systematic description of the burden of bone manifestations, persisting despite ERT, should inform future remedial strategies. Thus, we conducted this study to quantify the @entity1141 and to explore putative relationships between clinical, radiologic, and biochemical factors and bone sequelae associated with disability.Consecutive adult @entity1 attending 3 referral centers in the United Kingdom were invited to participate. A representative group of 100 @entity1 agreed to a structured interview, clinical examination, radiologic review, and completion of questionnaires. @entity2530 was evident in 43%, @entity85 in 59%, @entity174 in 28%, @entity4034 in 6%, and @entity75 in 4%. Mobility was impaired in 32% of @entity1 , while 15% experienced significant @entity158 . The EuroQol 5D (EQ5D) quality of life summary measure was reduced and was associated with @entity2530 and @entity174 . Eight @entity1 experienced new @entity2530 after the start of ERT, though the presentation and evolution were often atypical. Nine @entity1 had been treated from childhood and had an excellent outcome. @entity2530 was associated with age of presentation and with splenectomy-indeed, we observed a strong temporal association between splenectomy and incidence of @entity2530 .The biomarkers @entity11602 / @entity11602 and chitotriosidase were associated with prevalent @entity2530 , and, in particular, with @entity2530 occurring despite treatment. This study documents significant residual skeletal pathology and disability in @entity1 in the mature phase of their treatment in a developed region. The temporal association between splenectomy and @entity2530 implies causation. The relationship between clinical and biochemical markers and existing bone complications sets the scene for future prospective studies that will focus on management strategies informed by credible assessment of risk.
