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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. [ABSTRACT FROM AUTHOR]

Gaucher disease is an uncommon autosomal recessive disorder characterized by lysosomal storage of glucosyl ceramide, a material released during cell degradation. Patients with Gaucher disease often have significant hematologic, bone structural, and visceral problems which sometimes greatly affect their health and life style. Based on some extraordinary scientific discoveries over the past 45 years, a treatment system has evolved which consists of administration of an enzyme, which destroys the lysosome-stored material and to some extent restores the patients to good health. There are still some problems for these patients; however, and the purpose of the study is to define some of the clinical, sociologic, and psychologic problems with a specially designed questionnaire. Questionnaire data was collected for 128 patients from two institutions with complete anonymity, and the information compared against data from a National Health Inteview Survey. The results show that many of the patients still have fairly extensive problems, which could possibly be helped by some alterations in treatment protocols. [ABSTRACT FROM AUTHOR]

Few studies have reported on the effect of Gaucher‘s disease on patient-reported, health-related quality of life (HRQoL) and we do not know how the HRQoL burden of Gaucher‘s disease compares to that of other chronic conditions, what areas of HRQoL are most affected or how the course of change in HRQoL compares with that observed for other conditions or for the general adult population. The purpose of this study was to estimate (1) the HRQoL burden associated with Gaucher‘s disease managed by enzyme replacement therapy (ERT), (2) recalled changes in HRQoL since ERT initiation and (3) risk factors predictive of HRQoL outcomes. We sampled 212 patients with Gaucher‘s disease recruited from 146 physicians prescribing ERT in the US. The patients were at least 14 years of age and had been on ERT from 1 to 51 months. The mean (SD) age of the participants was 45 (17) years. Forty-nine percent had had a prior splenectomy and 26% had had a joint replacement. We administered the SF-36 Health Survey (SF-36) and three questions about changes in physical, mental and general HRQoL since starting ERT. The patients with Gaucher‘s disease scored significantly worse than the age- and gender-adjusted US norms on five of the eight SF-36 subscales (p<0.05). Age (p<0.0001) and joint replacement (p<0.001) were negatively associated with physical health. The presence of an intact spleen (p<0.01) and a longer duration of ERT (p<0.01) were associated with better mental health. When asked about changes in HRQoL since starting ERT, at least half of the patients reported fewer limitations in physical activities (53%), better general health perceptions (77%) and less negative emotions (49%) at the time of the interview. Patients who had been receiving ERT for approximately 4 years recalled four and five times more improvement in general HRQoL in comparison with recalled changes over a 4 year period among adults in the general population (p<0.001) and a congestive heart failure population (p<0.01), respectively. Odds ratios (ORs) revealed that female patients were more likely to report improvements in general HRQoL than males (OR=4.50 and 95% CI=2.19–9.25) and 45 year old patients were less likely to report improvements than 35 year olds (OR=0.76 and 95% CI=0.62–0.94). Relative to patients who had been receiving ERT for 1 year, those who had been receiving ERT for 2 and 4 years were 1.40 (95% CI=1.06–1.84) and 2.75 (95% CI=1.20–6.27) times more likely to report improvements in general HRQoL, respectively. In summary, patients with Gaucher‘s disease on ERT reported an improvement in HRQoL that was greater than that reported by patients with other chronic diseases. However, Gaucher‘s patients treated for up to 51 months scored below equivalent adults in the general population. The risk factors, including age and history of splenectomy and joint replacement, warrant further study. Standardized HRQoL measures are likely to prove useful in understanding better the outcomes from the Gaucher‘s patient‘s perspective. [ABSTRACT FROM AUTHOR]

ABSTRACTGaucher disease (GD) is the most frequent lysosomal storage disease, caused by mutations in the acid β-glucosidase gene (GBA). The c.1226A > G (N370S) mutation is associated with non-neuronopathic disease (type 1). However, we have observed some discrepancy between genotype and phenotype in Spanish Gaucher disease patients homozygous for the c.1226A > G mutation. A deletion of 55 bp in the exon 9 GBA gene, corresponding to the deleted portion of the β-glucosidase pseudogene, has been previously reported as a cause of erroneous assignment of 1226G/1226G homozygous patients when the genotype has been performed by PCR assay. We had originally identified 25 (out of 124) unrelated Gaucher disease patients as being putative homozygotes for the c.1226A > G mutation. By means of a new PCR-based assay, we were able to distinguish between the true homozygous patients and the carriers of the 55-bp deletion in exon 9 of the GBA gene. The 55-bp deletion was detected in 10 out of 25 samples (40%) [7 with the 55-bp deletion, 1 RecTL, 1 RecNciI (both including the deletion) and one rearrangement]. Such a high prevalence in this sample suggests that this allele can be more common than expected among GD patients. [Copyright &y& Elsevier]