Quality of life related to type 1 Gaucher disease: Spanish experience

Giraldo, Pilar; Solano, Víctor Manuel; Pérez-Calvo, Juan-Ignacio; Giralt, Manuel; Rubio-Félix, D

doi:10.1007/s11136-004-0794-y

Cited by 61 publications

(61 citation statements)

References 8 publications

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“…For patients with GD receiving ERT, six studies were retrieved (Damiano et al 1998;Masek et al 1999;Giraldo et al 2000Giraldo et al , 2005Pastores et al 2003;Weinreb et al 2007). The study conducted by Masek et al (1999) with North American patients with GD was used for comparisons with our study.…”

Section: Discussionmentioning

confidence: 99%

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Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

et al. 2012

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Summary Objective: To evaluate QoL in a sample of Brazilian patients with Gaucher (GD) and Fabry (FD) disease using the SF-36 survey.Method: Observational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil.Results: Thirty-five patients were included in the study (GD ¼ 21, FD ¼ 14), mean age was 29.8 AE 14. Discussion and Conclusion: Although limited because of the small number of patients included, findings suggest that patients with GD receiving ERT have a better QoL than patients with FD or with GD not receiving ERT. Imiglucerase has a beneficial effect against pain for patients with GD. Further studies should be conducted to confirm our findings.

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Section: Discussionmentioning

confidence: 99%

“…ERT is currently available for the following LSDs: GD, FD, MPS I, MPS II, MPS VI, and Pompe disease. The effects of ERT on the QoL of patients with GD have already been described (Damiano et al 1998;Masek et al 1999;Giraldo et al 2000;Pastores et al 2003;Giraldo et al 2005;Weinreb et al 2007), but are still unknown for patients with FD.…”

Section: Introductionmentioning

confidence: 92%

Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

et al. 2012

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“…Compared to the visceral and the hematological disease, bone involvement in patients with GD1 causes the greatest impairment in the quality of life. (6) The most impactful and dramatic clinical complications arising from bone involvement are AVN, osteopenia, and fractures. (2,5,7,8) These complications permanently alter the health status of affected patients due to chronic pain, disability, and the need for surgical interventions.…”

Section: Introductionmentioning

confidence: 99%

“…(2,5,7,8) These complications permanently alter the health status of affected patients due to chronic pain, disability, and the need for surgical interventions. (6) The precise risk of AVN in untreated GD1 (not receiving imiglucerase therapy) was estimated to be 22.8 per 1000 person years (95% confidence interval [CI], 20.2-25.7) of follow-up. (9) Imiglucerase therapy reduces the incidence of AVN to 13.8 per 1000 years of followup.…”

Section: Introductionmentioning

confidence: 99%

Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Khan

Hangartner

Weinreb³

et al. 2012

Journal of Bone and Mineral Research

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We hypothesized that overall disease activity or the severity of involvement of individual disease compartments, as measured by clinical and surrogate markers, predict the risk of avascular osteonecrosis (AVN) or fractures in type 1 Gaucher disease (GD1). We applied our risk‐set matched case‐control method to identify four patient groups within the International Collaborative Gaucher Group (ICGG) Gaucher Registry based on the presence and absence of AVN and fractures. Characteristics of GD1 were examined by comparing the distributions of each risk factor in cases versus matched controls using conditional logistic regression to calculate adjusted odds ratios (OR). Potential risk factors included hematological and visceral parameters, GD1 biomarkers, white blood cells, GBA1 genotype, and spine and femur dual‐energy X‐ray absorptiometry (DXA) Z‐scores. In the total population of 5894 ICGG Gaucher Registry patients, 544 experienced at least one episode of AVN; 2008 reported no history of AVN. Clinical and surrogate markers of disease activity were similar in patients with and without AVN; patients with AVN were 1.6 times more likely to be anemic compared to matched controls (OR = 1.59; 95% confidence interval [CI], 1.06–2.38, p < 0.05). For fractures, 319 patients suffered fractures and 1233 had no prior history of fractures. Clinical and surrogate markers of disease in patients with and without fractures were similar, except for mean lumbar spine DXA Z‐scores. Among patients with fractures, 49.3% had DXA Z‐scores ≤ −1 compared to 31.0% in the control group. Compared to controls with Z‐scores > −1.0, GD1 patients exhibiting Z‐scores ≤ −1 had an OR of 5.55 (95% CI, 1.81–17.02, p < 0.01) for fracture. In GD1, after controlling for gender, year of birth, treatment status, and splenectomy status, we identified new risk factors for AVN and fractures. Concurrent anemia was associated with an increased risk for AVN. Low bone mineral density of the lumbar spine was a strong risk factor for fractures of the spine and femur in GD1. © 2012 American Society for Bone and Mineral Research.

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“…To obtain utility-based quality of life data, three separate methods are adopted: a literature review, mapping to EuroQol 5 Dimensions (EQ-5D) and estimation of public preference utilities. The literature review identified three studies that reported economic evaluations, 155,156 all of which produced very high ICERs despite optimistic assumptions being applied (lower prices than available in the UK and high estimates of effectiveness). Using cohort studies to assess the quality of life of an average patient with Gaucher's disease aged between 40 and 49 years, an increment to quality of life is estimated from treatment of ERT.…”

Section: Data Receivedmentioning

confidence: 99%

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review

2007

Clinical Governance: An International Journal

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Quality of life related to type 1 Gaucher disease: Spanish experience

Cited by 61 publications

References 8 publications

Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review

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Quality of life related to type 1 Gaucher disease: Spanish experience

Cited by 61 publications

References 8 publications

Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review

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The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review