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.

Psychological Health in Adults with Morquio Syndrome

“…The results of the present (Crosbie et al 2009;Gold et al 2002;Masek et al 1999;Packman et al 2006;Watt et al 2010;Weinreb et al 2007;Wilcox et al 2008). Prevalence estimates of depression in FD range from 15 to 62% (Bolsover et al 2014;Grewal 1993;Wang et al 2007), with the largest study (n ¼ 296) reporting 46% (Cole et al 2007).…”

Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

“…Additionally, morphometric parameters included the trabecular thickness, trabecular number (TbTh., mm, TbN, mm À1 ), and cortical thickness (CtTh, mm). The trabecular number is determined based on a direct analysis of the 3D data, and then trabecular thickness and separation are derived (MacNeil and Boyd 2007;Weinreb et al 2007). …”

Ocular Features of Treatable Lysosomal Storage Disorders – Fabry Disease, Mucopolysaccharidoses I, II and VI and Gaucher Disease

“…55,[67][68][69][70] Splenectomy can be avoided, debilitating skeletal complications can be averted in many and the average life expectancy of Gaucher patients has increased, indicating a positive effect on reducing morbidity. Reported evidence of ophthalmological responses is limited, but reversal of loss of vision has been reported.…”