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JIMD Reports - Case and Research Reports, 2012/4 pp 31–37Cite as

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

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Part of the book series: JIMD Reports ((JIMD,volume 7))

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 = 21, FD = 14), mean age was 29.8 ± 14.2 years and 29 (82.9%) were receiving ERT. Patients with GD receiving ERT had better scores in the general health (p = 0.046) domain of the SF-36 than patients with FD receiving ERT. Comparison of patients with GD naive to ERT and those receiving ERT revealed differences only in the bodily pain domain (p = 0.036). The Zimran score showed a moderate negative correlation with the following domains of the SF-36: physical functioning (p = 0.035), role-physical (p = 0.036), general health (p = 0.023) and role emotional (p = 0.021).

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.

Competing interests: None declared

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References

  • Ciconelli RM, Ferraz MB, Santos W, Meinão I, Quaresma MR (1997) Brazilian-Portuguese version of the SF-36. A reliable and valid quality of life outcome measure. Rev Bras Reumatol 39:50

    Google Scholar 

  • Damiano AM, Pastores GM, Ware JE (1998) The health-related quality of life of adults with Gaucher’s disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res 7:373–386

    Article  PubMed  CAS  Google Scholar 

  • Gieselmann V (1995) Lysosomal storage diseases. Biochim Biophys Acta 1270:103–136

    Article  PubMed  Google Scholar 

  • Giraldo P, Pocoví M, Pérez-Calvo J, Rubio-Félix D, Giralt M (2000) Report of the Spanish Gaucher’s Disease Registry: clinical and genetic characteristics. Haematologica 85:792–799

    PubMed  CAS  Google Scholar 

  • Giraldo P, Solano V, Pérez-Calvo JI, Giralt M, Rubio-Félix D, Spanish Group on Gaucher Disease (2005) Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res 14:453–462

    Article  PubMed  Google Scholar 

  • Hsiung PC, Fang CT, Chang YY, Chen MY, Wang JD (2005) Comparison of WHOQOL-bREF and SF-36 in patients with HIV infection. Qual Life Res 14:141–150

    Article  PubMed  Google Scholar 

  • Kosinski M, Zhao SZ, Dedhiya S, Osterhaus JT, Ware JE Jr (2000) Determining minimally important changes in generic and disease-specific health-related quality of life questionnaires in clinical trials of rheumatoid arthritis. Arthritis Rheum 43:1478–1487

    Article  PubMed  CAS  Google Scholar 

  • Lima MG, Barros MB, Cesar CL, Goldbaum M, Carandina L, Ciconelli RM (2009) Health related quality of life among the elderly: a population-based study using SF-36 survey. Cad Saude Publica 25:2159–2167

    Article  PubMed  Google Scholar 

  • Masek BJ, Sims KB, Bove CM, Korson MS, Short P, Norman DK (1999) Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res 8:263–268

    Article  PubMed  CAS  Google Scholar 

  • McHorney CA, Ware JE Jr, Raczek AE (1993) The MOS 36-Item Short-Form Health Survey (SF-36): II. Psychometric and clinical tests of validity in measuring physical and mental health constructs. Med Care 31:247–263

    Article  PubMed  CAS  Google Scholar 

  • Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999a) Prevalence of lysosomal storage disorders. JAMA 281:249–254

    Article  PubMed  CAS  Google Scholar 

  • Meikle PJ, Ranieri E, Ravenscroft EM, Hua CT, Brooks DA, Hopwood JJ (1999b) Newborn screening for lysosomal storage disorders. Southeast Asian J Trop Med Public Health 30(Suppl 2):104–110

    PubMed  Google Scholar 

  • Panzini RG, Bandeira DR (2005) Quality of life and spiritual-religious coping relations. Qual Life Res 14:2106–2107

    Google Scholar 

  • Pastores GM, Barnett NL, Bathan P, Kolodny EH (2003) A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis 26:641–645

    Article  PubMed  CAS  Google Scholar 

  • Pinto LL, Vieira TA, Giugliani R, Schwartz IV (2010) Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet J Rare Dis 5:14

    Article  PubMed  Google Scholar 

  • Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151–156

    PubMed  CAS  Google Scholar 

  • Raas-Rothschild A, Pankova-Kholmyansky I, Kacher Y, Futerman AH (2004) Glycosphingolipidoses: beyond the enzymatic defect. Glycoconj J 21:295–304

    Article  PubMed  CAS  Google Scholar 

  • Streiner DL, Norman GR (1995) Health measurement scales: a practical guide to their development and use. Oxford University Press, Oxford

    Google Scholar 

  • The WHOQOL Group (1994) Development of the WHOQOL: rationale and current status. Int J Ment Health 23:24–56

    Google Scholar 

  • Ware JE Jr, Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 30:473–483

    Article  PubMed  Google Scholar 

  • Ware JE, Snow KK, Kosinski M et al (1993) SF-36 health survey. Manual and interpretation guide. New England Medical Center, Boston

    Google Scholar 

  • Weinreb N, Barranger J, Packman S et al (2007) Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 71:576–588

    Article  PubMed  CAS  Google Scholar 

  • Wraith JE (2002) Lysosomal disorders. Semin Neonatol 7:75–83

    Article  PubMed  CAS  Google Scholar 

  • Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E (1992) Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine 71:337–53

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

The authors thank the staff of the Medical Genetics Service of HCPA and the staff of the Reference Center for Gaucher Disease for their support and collaboration in the conduction of this study. We also thank the Research and Graduate Program of HCPA, Porto Alegre, Brazil, for their support and preparation of statistical analysis, especially the statistician Marilyn Agranonik.

Author information

Authors and Affiliations

  1. Post-Graduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil

    Fabiane Lopes Oliveira, Bárbara Corrêa Krug & Ida Vanessa D. Schwartz

  2. Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil

    Taciane Alegra

  3. Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcellos, 2350, Porto Alegre, RS, 90035-003, Brazil

    Alicia Dornelles, Cristina B. O. Netto & Ida Vanessa D. Schwartz

  4. Department of Genetics, UFRGS, Porto Alegre, Brazil

    Ida Vanessa D. Schwartz

  5. Department of Psychiatry and Legal Medicine, UFRGS, Porto Alegre, Brazil

    Neusa Sica da Rocha

  6. Department of Internal Medicine, HCPA, State Health Department of Rio Grande do Sul, Porto Alegre, Brazil

    Paulo D. Picon

Authors
  1. Fabiane Lopes Oliveira
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  2. Taciane Alegra
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  3. Alicia Dornelles
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  4. Bárbara Corrêa Krug
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  5. Cristina B. O. Netto
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  6. Neusa Sica da Rocha
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  7. Paulo D. Picon
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  8. Ida Vanessa D. Schwartz
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Corresponding author

Correspondence to Ida Vanessa D. Schwartz .

Editor information

Editors and Affiliations

  1. , Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, United Kingdom

    Garry Brown

  2. Medical Center, Department of Pediatrics, Radboud University Nijmegen, Geert Grooteplein 9, Nijmegen, 6500 HB, Netherlands

    Eva Morava

  3. Heidelberg University Hospital, Center for Child and Adolescent Medicine, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Verena Peters

  4. Biological Sciences, Michigan Technological University, 1400 Townsend Drive, Houghton, 49931, USA

    K Michael Gibson

  5. Division of Human Genetics, Medical University Innsbruck, Sch�pfstr. 41, Innsbruck, A-6020, AT

    Johannes Zschocke

Additional information

Communicated by: Ed Wraith

Appendices

Synopsis of the Article

This study evaluated the quality of life of patients with Gaucher and Fabry diseases using a nonspecific instrument, the SF-36 questionnaire. Results suggested that ERT has a positive effect against the pain domain for patients with Gaucher disease.

Authors Contributions

Fabiane Lopes Oliveira Conception and design, analysis and interpretation of data, drafting of the article.

Taciane Alegra Analysis and interpretation of data, drafting of the article.

Alicia Dornelles Analysis and interpretation of data, drafting of the article.

Bárbara Corrêa Krug Analysis and interpretation of data, drafting of the article.

Cristina B. O. Netto Analysis and interpretation of data, drafting of the article.

Neusa Sica da Rocha Analysis and interpretation of data, drafting of the article.

Paulo D. Picon Analysis and interpretation of data, drafting of the article.

Ida Vanessa D. Schwartz Conception and design, analysis and interpretation of data, drafting of the article.

Guarantor for the Article

Ida Vanessa D. Schwartz.

Competing Interest

All authors declare that the answer to all questions on the JIMD competing interest form is No, and therefore they have nothing to declare.

Funding

This study was partially funded by FIPE/HCPA, Porto Alegre, Brazil (project # 08-209), and by grants from the Brazilian Agency of Research-CNPq (MCT/CNPq/MS-SCTIE-DECIT 33/2007; MCT/CNPq/MS-SCTIE-DECIT 37/2008; and MCT/CNPq/MS-SCTIE-DECIT 67/2009).

Ethics Approval

This study was approved by the Ethics in Research Committee of the Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Patient Consent

All patients or their guardians signed an informed consent form.

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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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Oliveira, F.L. et al. (2012). Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease. In: Brown, G., Morava, E., Peters, V., Gibson, K., Zschocke, J. (eds) JIMD Reports - Case and Research Reports, 2012/4. JIMD Reports, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_136

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  • DOI: https://doi.org/10.1007/8904_2012_136

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-32441-3

  • Online ISBN: 978-3-642-32442-0

  • eBook Packages: MedicineMedicine (R0)

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