This page contains a Flash digital edition of a book.
Weinreb_edit_EU.qxp 28/9/07 12:31 Page 36
Gaucher Disease
therapy for many years, and started at an advanced age, elderly early in the course of GD1, before irreversible bone complications
patients with GD1 may commonly have persistent osteopaenia/ have developed.
31,51
Even when bone manifestations have occurred,
osteoporosis and increased fracture risk, and the concurrent use of skeletal regeneration and normalisation of certain bone parameters
bisphosphonate notwithstanding (Weinreb, unpublished data). This may be possible with optimal imiglucerase therapy. In conjunction
observation underlines the importance of detection of bone loss in with treatment, adequate assessment, monitoring and goal-setting
young Gaucher patients with early therapeutic intervention to achieve are of importance using quantifiable techniques such as DEXA,
and maintain normal BMD. MRI and hopefully in the near future, specific, sensitive and widely
available biomarkers. ■
Conclusion
Imiglucerase treatment, tailored individually to extent and rapidity Acknowledgement
of the disease process and adjusted in accordance with achievement of This project was partly supported by an educational grant from Genzyme
recognised therapeutic goals, should be initiated and maintained Corporation, Cambridge, Massachusetts, US.
1. Beutler E, Grabowski GA, Gaucher Disease. In: Scriver CR, evaluated by scintigraphy with 99mTc-Sestamibi, J Nucl Med, position statement, J Inherit Metab Dis, 2003;26:513–26.
Beaudet AL, Sly WS, et al. (eds), The Metabolic and Molecular 2003;44:1253–62. 35. Cox TM, Lachmann R, Hollak C, Novel oral treatment of
Basis of Inherited Disease, 8th edition, New York, NY: McGraw- 19. Dolen EG, Berdon WE, Ruzal-Shapiro C, ‘Cold bone scans’ as a Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to
Hill, 2001;3635–68. sign of hemorrhagic infarcts of the spine in Gaucher’s disease, decrease substrate biosynthesis, Lancet, 2000;355:1481–5.
2. Itzchaki M, Lebel E, Dweck A, et al., Orthopedic considerations Pediatr Radiol, 1997;27:514–16. 36. Elstein D, Hollak C, Aerts JM, et al., Sustained therapeutic
in Gaucher disease since the advent of enzyme replacement 20. Johnson LA, Hoppel BE, Gerard EL, et al., Quantitative chemical effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT
therapy, Acta Orthop Scand, 2004;75:641–53. shift imaging of vertebral bone marrow in patients with 918) in type I Gaucher disease, J Inherit Metab Dis, 2004;27:
3. Vom Dahl S, Poll L, Di Rocco M, et al., Evidence-based Gaucher disease, Radiology, 1992;182:451–5. 757–66.
recommendations for monitoring bone disease and the 21. Hollak CE, Maas M, Akkerman E, et al., Dixon quantitative 37. Pastores GM, Barnett NL, Kolodny EH, An open-label, non-
response to enzyme replacement therapy in Gaucher patients, chemical shift imaging is a sensitive tool for the evaluation of comparative study of miglustat in type I Gaucher disease:
Curr Med Res Opin, 2006;22:1045–64. bone marrow responses to individualized doses of enzyme efficacy and tolerability over 24 months of treatment, Clin Ther,
4. Rosenthal DI, Scott JA, Barranger J, et al., Evaluation of supplementation therapy in type 1 Gaucher disease, Blood Cells 2005;27:1215–27.
Gaucher disease using magnetic resonance imaging, J Bone Mol Dis, 2001;27:1005–12. 38. Weinreb NJ, Barranger JA, Charrow J, et al., Guidance on the
Joint Surg Am, 1986;68:802–8. 22. Maas M, Hollak CE, Akkerman EM, et al., Quantification of use of miglustat for treating patients with type 1 Gaucher
5. Maas M, van Kuijk C, Stoker J, et al., Quantification of bone skeletal involvement in adults with type I Gaucher’s disease: fat disease, Am J Hematol, 2005;80:223–9.
involvement in Gaucher disease: MR imaging bone marrow fraction measured by Dixon quantitative chemical shift imaging 39. Mistry PK, Wraight EP, Cox TM, Therapeutic delivery of proteins
burden score as an alternative to Dixon quantitative chemical as a valid parameter, Am J Roentgenol, 2002;179:961–5. to macrophages: implications for treatment of Gaucher’s
shift MR imaging—initial experience, Radiology, 2003;229: 23. Poll LW, Koch JA, vom Dahl S, et al., Magnetic resonance disease, Lancet, 1996;348:1555–9.
554–61. imaging of bone marrow changes in Gaucher disease during 40. Parfitt AM, Life history of osteocytes: relationship to bone age,
6. Boven LA, van Meurs M, Boot RG, et al., Gaucher cells enzyme replacement therapy: first German long-term results, bone remodeling, and bone fragility, J Musculoskelet Neuronal
demonstrate a distinct macrophage phenotype and resemble Skeletal Radiol, 2001;30:496–503. Interact, 2002;2:499–500.
alternatively activated macrophages, Am J Clin Path, 2004;122: 24. Robertson PL, Maas M, Goldblatt J, Semiquantitative 41. Manolagas SC, Birth and death of bone cells: basic regulatory
359–69. assessment of skeletal response to enzyme replacement therapy mechanisms and implications for the pathogenesis and
7. Aerts JM, Hollak CE, Plasma and metabolic abnormalities in for Gaucher’s disease using the bone marrow burden score, Am treatment of osteoporosis, Endocr Rev, 2000;21:115–37.
Gaucher’s disease, Baillieres Clin Haematol, 1997;10:691–709. J Roentgenol, 2007;188:1521–8. 42. Rosenthal DI, Doppelt SH, Mankin HJ, et al., Enzyme
8. Allen MJ, Myer BJ, Khokher AM, et al., Pro-inflammatory 25. Pastores GM, Wallenstein S, Desnick RJ, et al., Bone density in replacement therapy for Gaucher disease: skeletal responses to
cytokines and the pathogenesis of Gaucher’s disease: increased Type 1 Gaucher disease, J Bone Miner Res, 1996;11:1801–7. macrophage-targeted glucocerebrosidase, Pediatrics, 1995;96:
release of interleukin-6 and interleukin-10, Quart J Med, 26. Lebel E, Dweck A, Foldes AJ, et al., Bone density changes with 629–37.
1997;90:19–25. enzyme therapy for Gaucher disease, J Bone Miner Metab, 43. Kaplan P, Mazur A, Manor O, et al., Acceleration of retarded
9. Altarescu G, Zimran A, Michelakakis H, Elstein D, TNF-alpha 2004;22:597–601. growth in children with Gaucher disease after treatment with
levels and TNF-alpha gene polymorphism in type I Gaucher 27. Ciana G, Addobbati R, Tamaro G, et al., Gaucher disease and alglucerase, J Pediatrics, 1996;129:149–53.
disease, Cytokine, 2005;31:149–52. bone: Laboratory and skeletal mineral density variations during 44. Zimran A, Abrahamov A, Elstein D, Children with type 1
10. Van Breemen MJ, De Fost M, Voerman JS, et al., Increased a long period of enzyme replacement therapy, J Inherit Metab Gaucher disease: Growing into adulthood with and without
plasma macrophage inflammatory protein (MIP)-1alpha and Dis, 2005;28:723–32. enzyme therapy, Israel Medical Assoc J, 2000;2:80–81.
MIP-1beta levels in type 1 Gaucher disease, Biochim Biophys 28. Wenstrup RJ, Kacena KA, Kaplan P, et al., Effect of enzyme 45. De Fost M, Hollak CEM, Groener JEM, et al., Superior effects of
Acta, 2007;1772:788–96. replacement therapy with imiglucerase on BMD in type 1 high-dose enzyme replacement therapy in type 1 Gaucher
11. Wenstrup RJ, Roca-Espiau M, Weinreb NJ, et al., Skeletal Gaucher disease, J Bone Miner Res, 2007;22:119–26. disease on bone marrow involvement and chitotriosidase levels:
aspects of Gaucher disease: a review, Br J Radiol, 2002; 29. Bembi B, Ciana G, Mengel E, et al., Bone complications in a 2-center retrospective analysis, Blood, 2006;108: 830–35.
75(Suppl. 1):A2–A12. children with Gaucher disease, Br J Radiol, 2002;75(Suppl. 1): 46. El-Beshlawy A, Ragab L, Youssry I, et al., Enzyme replacement
12. Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA, Skeletal A37–A44. therapy and bony changes in Egyptian paediatric Gaucher
complications of Gaucher disease, Medicine (Baltimore), 1985; 30. Sims K, Barranger J, Kaplan P, et al., Long-term improvement of disease patients, J Inherit Metab Dis, 2006;29:92–8.
64:310–22. bone disease and quality of life scores following treatment with 47. Charrow J, Dulisse B, Grabowski GA, Weinreb NJ, The effect of
13. Elstein D, Itzchaki M, Mankin HJ, Skeletal involvement in Cerezyme in patients with skeletal manifestations of Type I enzyme replacement therapy on bone crisis and bone pain in
Gaucher’s disease, Baillieres Clin Haematol, 1997;10:793–816. Gaucher disease: Results of a 48-month single-arm, open label, patients with type 1 Gaucher disease, Clin Genet, 2007;71:
14. Charrow J, Andersson HC, Kaplan P, et al., The Gaucher clinical trial. Presented at American Society of Human Genetics, 205–11.
Registry: Demographics and disease characteristics of 1698 New Orleans, 2006. www.ashg.org/cgi-bin/ashg065/ashg06 48. Weinreb N, Barranger J, Packman S, et al., Imiglucerase
patients with Gaucher disease, Arch Intern Med, 2000;160: 31. Pastores GM, Weinreb NJ, Aerts H, et al., Therapeutic Goals in (Cerezyme
®
) improves quality of life in patients with skeletal
2835–43. the Treatment of Gaucher Disease, Semin Hematol, 2004;41S5: manifestations of Gaucher disease, Clin Genet, 2007;71:
15. Giraldo P, Solano V, Pérez-Calvo J-I, et al., Quality of life 4–14. 576–88.
related to type 1 Gaucher disease: Spanish experience, Qual Life 32. Barton NW, Brady RO, Dambrosia JM, et al., Replacement 49. Kelly CA, Bartholomew P, Lapworth A, et al., Peripheral bone
Res, 2005;14:453–61. therapy for inherited enzyme deficiency – macrophage-targeted density in patients with rheumatoid arthritis and factors that
16. Weinreb NJ, Deegan P, Kacena K, et al., Life expectancy is glucocerebrosidase for Gaucher’s disease, N Engl J Med, 1991; influence it, Eur J Intern Med, 2002;13:423–7.
decreased in type 1 Gaucher disease. Presented at American 324:1464–70. 50. Robinson RJ, Al Azzawi F, Iqbal SJ, et al., Osteoporosis and
Society of Human Genetics, New Orleans, 2006. 33. Weinreb NJ, Charrow J, Andersson HC, et al., Effectiveness of determinants if bone density in patients with Crohn’s disease,
www.ashg.org/cgi-bin/ashg065/ashg06 enzyme replacement therapy in 1028 patients with type 1 Digest Dis Sci, 1998;43:2500–8.
17. Weinreb NJ, Aggio MC, Andersson HC, et al., Gaucher Disease Gaucher disease after 2 to 5 years of treatment: a report from 51. Andersson HC, Charrow J, Kaplan P, et al., International
Type 1: Revised Recommendations on Evaluations and the Gaucher Registry, Am J Med, 2002;113:112–19. Collaborative Gaucher Group US Regional Coordinators.
Monitoring for Adult Patients, Semin Hematol, 2004;41S5: 34. Cox TM, Aerts JM, Andria G, et al., Advisory Council to the Individualization of long-term enzyme replacement therapy for
15–22. European Working Group on Gaucher Disease. The role of the Gaucher disease, Genet Med, 2005;7:105–10.
18. Mariani G, Filocamo M, Giona F, et al., Severity of bone iminosugar N-butyldeoxynojirimycin (miglustat) in the
marrow involvement in patients with Gaucher’s disease management of type I (non-neuronopathic) Gaucher disease: a
36 EUROPEAN MUSCULOSKELETAL REVIEW 2007
Page 1  |  Page 2  |  Page 3  |  Page 4  |  Page 5  |  Page 6  |  Page 7  |  Page 8  |  Page 9  |  Page 10  |  Page 11  |  Page 12  |  Page 13  |  Page 14  |  Page 15  |  Page 16  |  Page 17  |  Page 18  |  Page 19  |  Page 20  |  Page 21  |  Page 22  |  Page 23  |  Page 24  |  Page 25  |  Page 26  |  Page 27  |  Page 28  |  Page 29  |  Page 30  |  Page 31  |  Page 32  |  Page 33  |  Page 34  |  Page 35  |  Page 36  |  Page 37  |  Page 38  |  Page 39  |  Page 40  |  Page 41  |  Page 42  |  Page 43  |  Page 44  |  Page 45  |  Page 46  |  Page 47  |  Page 48  |  Page 49  |  Page 50  |  Page 51  |  Page 52  |  Page 53  |  Page 54  |  Page 55  |  Page 56  |  Page 57  |  Page 58  |  Page 59  |  Page 60  |  Page 61  |  Page 62  |  Page 63  |  Page 64  |  Page 65  |  Page 66  |  Page 67  |  Page 68  |  Page 69  |  Page 70  |  Page 71  |  Page 72  |  Page 73  |  Page 74  |  Page 75  |  Page 76  |  Page 77  |  Page 78  |  Page 79  |  Page 80  |  Page 81  |  Page 82  |  Page 83  |  Page 84  |  Page 85  |  Page 86  |  Page 87  |  Page 88  |  Page 89  |  Page 90  |  Page 91  |  Page 92  |  Page 93  |  Page 94  |  Page 95  |  Page 96  |  Page 97  |  Page 98  |  Page 99
Produced with Yudu - www.yudu.com