title: Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease.
abstract: Health-related quality of life (HRQOL) can be diminished in patients with type 1 Gaucher disease (GD) owing to the debilitating clinical manifestations of this chronic disease. This study investigates the impact of imiglucerase treatment on HRQOL of patients with type 1 GD and bone involvement. Thirty-two previously untreated type 1 GD patients with skeletal manifestations including bone pain, medullary infarctions, avascular necrosis, and lytic lesions received biweekly imiglucerase (at 60 U/kg). The Short Form-36 Health Survey (SF-36) was administered at regular intervals to assess HRQOL. Mean baseline SF-36 physical component summary (PCS) scores were diminished relative to US general population norms. Low PCS scores were more common in patients with medullary infarction, lytic lesions, and higher bone pain severity scores. Statistically significant improvements were observed for all eight SF-36 subscales after 2 years of treatment. Mean PCS and mental component summary (MCS) scores increased to within the normal range after 2 years of treatment and were maintained through year 4. Large HRQOL gains were observed even in patients with the most advanced disease and lowest baseline PCS scores. Imiglucerase treatment has a significant positive impact on HRQOL of type 1 GD patients with skeletal disease, including those with bone infarctions, lytic lesions, and avascular necrosis.
authors.affiliation: University Research Foundation for Lysosomal Storage Diseases, Coral Springs, FL 33065, USA. boneal@winning.com
authors.forename: N
authors.initials: N
authors.lastname: Weinreb
authors.forename: J
authors.initials: J
authors.lastname: Barranger
authors.forename: S
authors.initials: S
authors.lastname: Packman
authors.forename: A
authors.initials: A
authors.lastname: Prakash-Cheng
authors.forename: B
authors.initials: B
authors.lastname: Rosenbloom
authors.forename: K
authors.initials: K
authors.lastname: Sims
authors.forename: J
authors.initials: J
authors.lastname: Angell
authors.forename: A
authors.initials: A
authors.lastname: Skrinar
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
mesh_terms: D000328:Adult; D015519:Bone Density / Q000187:drug effects; D001847:Bone Diseases / Q000209:etiology / Q000378:metabolism; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011788:Quality of Life; D011795:Surveys and Questionnaires; D016896:Treatment Outcome
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase