Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Long-term Effectiveness of Enzyme Replacement Therapy in Fabry Disease

파브리병에서 효소대치요법의 장기적 효과

  • Kim, Ja Hye (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Cho, Ja Hyang (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 김자혜 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과) ;
  • 조자향 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과) ;
  • 최진호 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과) ;
  • 이범희 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과)
  • Published : 2014.06.30
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Abstract

Fabry disease is an X-linked disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Affected males present anhydrosis, acroparesthesia and angiokeratoma, and subsequently cardiac, cerebral and renal complications are followed. Females and atypical variants show heterogeneous clinical symptoms. In 2001, two recombinant enzymes were approved for Fabry disease: agalsidase alpha and agalsidase beta. Since the introduction of enzyme replacement therapy (ERT), the number of long-term follow-up studies has been reported. Long-term ERT showed effectiveness on renal function in patients with chronic kidney disease, decrease or stabilization of left ventricular mass, and improvement of pain and quality of life. However, there were limited effects on cerebrovascular events and their mortality. Current literatures on the clinical effect of ERT have reported limited datain adult patients who have already advanced disease. Therefore, further study for pre-symptomatic patients and atypical variants is needed to verify the impact of ERT. This review summarized recent progresses in ERT and limitations of long-term effect of ERT in patients with Fabry disease.

Keywords

References

  1. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30. https://doi.org/10.1186/1750-1172-5-30
  2. Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 2013;22:555-64. https://doi.org/10.1007/s10897-013-9613-3
  3. Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G. Prevalence of Fabry Disease in Stroke Patients- A Systematic Review and Meta-analysis. J Stroke Cerebrovasc Dis 2013.
  4. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92. https://doi.org/10.1007/s10545-007-0521-2
  5. Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 2013;8:47. https://doi.org/10.1186/1750-1172-8-47
  6. Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun 1998;19:887-91. https://doi.org/10.1097/00006231-199809000-00009
  7. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-48. https://doi.org/10.1097/01.gim.0000237866.70357.c6
  8. Mohrenschlager M, Braun-Falco M, Ring J, Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 2003; 4:189-96. https://doi.org/10.2165/00128071-200304030-00005
  9. Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis : Effectiveness of ERT in different disease stages. J Inherit Metab Dis 2014;37:341-52. https://doi.org/10.1007/s10545-014-9677-8
  10. Weidemann F, Niemann M, Stork S, Breunig F, Beer M, Sommer C, et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 2013;274:331-41. https://doi.org/10.1111/joim.12077
  11. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24:2102-11. https://doi.org/10.1093/ndt/gfp031
  12. Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff CM, Miebach E, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008;130:367-73. https://doi.org/10.1016/j.ijcard.2008.03.007
  13. Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M, et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med 2009;11:441-9. https://doi.org/10.1097/GIM.0b013e3181a23bec
  14. Anderson LJ, Wyatt KM, Henley W, Nikolaou V, Waldek S, Hughes DA, et al. Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study. J Inherit Metab Dis 2014.
  15. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009;374:1986-96. https://doi.org/10.1016/S0140-6736(09)61493-8
  16. Schiffmann R, Martin RA, Reimschisel T, Johnson K, Castaneda V, Lien YH, et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr 2010;156:832-7, 7.e1. https://doi.org/10.1016/j.jpeds.2009.11.007
  17. Choi JH, Cho YM, Suh KS, Yoon HR, Kim GH, Kim SS, et al. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci 2008;23:243-50. https://doi.org/10.3346/jkms.2008.23.2.243