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Stroke Research and Treatment
Volume 2011 (2011), Article ID 615218, 7 pages
http://dx.doi.org/10.4061/2011/615218
Review Article

Fabry Disease and Early Stroke

1Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
2Department of Medical Endocrinology, PE 2132, National University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark

Received 19 October 2010; Revised 11 March 2011; Accepted 11 March 2011

Academic Editor: Turgut Tatlisumak

Copyright © 2011 U. Feldt-Rasmussen. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. R. J. Desnick, I. A. Yannis, and C. M. Eng, “α-galactosidase a deficiency: Fabry disease,” in The Metabolic and Molecular Basis of Inherited Disease, C. R. Scriver, A. L. Beaudet, and W. S. Sly, Eds., pp. 3733–3774, McGraw-Hill, New York, NY, USA, 2001.
  2. A. C. Vedder, G. E. Linthorst, M. J. van Breemen et al., “The Dutch Fabry cohort: diversity of clinical manifestations and Gb levels,” Journal of Inherited Metabolic Disease, vol. 30, no. 1, pp. 68–78, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  3. K. D. MacDermot, A. Holmes, and A. H. Miners, “Natural history of Fabry disease in affected males and obligate carrier females,” Journal of Inherited Metabolic Disease, vol. 24, no. 2, supplement, pp. 13–14, 2001. View at Publisher · View at Google Scholar · View at Scopus
  4. R. Schiffmann, D. G. Warnock, M. Banikazemi et al., “Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy,” Nephrology Dialysis Transplantation, vol. 24, no. 7, pp. 2102–2111, 2009. View at Publisher · View at Google Scholar · View at PubMed
  5. K. D. MacDermot, A. Holmes, and A. H. Miners, “Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females,” Journal of Medical Genetics, vol. 38, no. 11, pp. 769–775, 2001. View at Scopus
  6. Y. A. Zarate and R. J. Hopkin, “Fabry's disease,” The Lancet, vol. 372, no. 9647, pp. 1427–1435, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  7. K. Sims, J. Politei, M. Banikazemi, and P. Lee, “Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the fabry registry,” Stroke, vol. 40, no. 3, pp. 788–794, 2009. View at Publisher · View at Google Scholar · View at PubMed
  8. A. Mehta, R. Ricci, U. Widmer et al., “Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey,” European Journal of Clinical Investigation, vol. 34, no. 3, pp. 236–242, 2004. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  9. W. R. Wilcox, J. P. Oliveira, R. J. Hopkin et al., “Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry,” Molecular Genetics and Metabolism, vol. 93, no. 2, pp. 112–128, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  10. A. Fellgiebel, M. J. Müller, and L. Ginsberg, “CNS manifestations of Fabry's disease,” Lancet Neurology, vol. 5, no. 9, pp. 791–795, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  11. J. Albrecht, P. R. Dellani, M. J. Müller et al., “Voxel based analyses of diffusion tensor imaging in Fabry disease,” Journal of Neurology, Neurosurgery and Psychiatry, vol. 78, no. 9, pp. 964–969, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  12. C. M. Eng, J. Fletcher, W. R. Wilcox et al., “Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry,” Journal of Inherited Metabolic Disease, vol. 30, no. 2, pp. 184–192, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  13. S. M. Rombach, T. B. Twickler, J. M. F. G. Aerts, G. E. Linthorst, F. A. Wijburg, and C. E. M. Hollak, “Vasculopathy in patients with Fabry disease: current controversies and research directions,” Molecular Genetics and Metabolism, vol. 99, no. 2, pp. 99–108, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  14. B. L. Thurberg, H. Rennke, R. B. Colvin et al., “Globotriaosylceramide accumulation in the fabry kidney is cleared from multiple cell types after enzyme replacement therapy,” Kidney International, vol. 62, no. 6, pp. 1933–1946, 2002. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  15. B. L. Thurberg, H. R. Byers, S. R. Granter, R. G. Phelps, R. E. Gordon, and M. O'Callaghan, “Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies,” Journal of Investigative Dermatology, vol. 122, no. 4, pp. 900–908, 2004. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  16. B. L. Thurberg, J. T. Fallen, R. Mitchell, T. Aretz, R. E. Gordon, and M. W. O'Callaghan, “Cardiac microvascular pathology in fabry disease evaluation of endomyocardial biopsies before and after enzyme replacement therapy,” Circulation, vol. 119, no. 19, pp. 2561–2567, 2009. View at Publisher · View at Google Scholar · View at PubMed
  17. F. Breunig and C. Wanner, “Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy,” Journal of Nephrology, vol. 21, no. 1, pp. 32–37, 2008. View at Scopus
  18. W. R. Wilcox, M. Banikazemi, N. Guffon et al., “Long-term safety and efficacy of enzyme replacement therapy for Fabry disease,” American Journal of Human Genetics, vol. 75, no. 1, pp. 65–74, 2004. View at Scopus
  19. F. Weidemann, M. Niemann, F. Breunig et al., “Long-term effects of enzyme replacement therapy on fabry cardiomyopathy. Evidence for a better outcome with early treatment,” Circulation, vol. 119, no. 4, pp. 524–529, 2009. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  20. D. F. Moore, C. R. Kaneski, H. Askari, and R. Schiffmann, “The cerebral vasculopathy of Fabry disease,” Journal of the Neurological Sciences, vol. 257, no. 1-2, pp. 258–263, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  21. M. J. Hilz, E. H. Kolodny, M. Brys, B. Stemper, T. Haendl, and H. Marthol, “Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease,” Journal of Neurology, vol. 251, no. 5, pp. 564–570, 2004. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  22. T. DeGraba, S. Azhar, F. Dignat-George et al., “Profile of endothelial and leukocyte activation in Fabry patients,” Annals of Neurology, vol. 47, no. 2, pp. 229–233, 2000. View at Publisher · View at Google Scholar · View at Scopus
  23. D. F. Moore, P. Herscovitch, and R. Schiffmann, “Selective arterial distribution of cerebral hyperperfusion in fabry disease,” Journal of Neuroimaging, vol. 11, no. 3, pp. 303–307, 2001. View at Scopus
  24. D. F. Moore, F. Ye, M. L. Brennan et al., “Ascorbate decreases fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study,” Journal of Magnetic Resonance Imaging, vol. 20, no. 4, pp. 674–683, 2004. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  25. F. Weidemann, A. Linhart, L. Monserrat, and J. Strotmann, “Cardiac challenges in patients with Fabry disease,” International Journal of Cardiology, vol. 141, no. 1, pp. 3–10, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  26. K. E. Crutchfield, N. J. Patronas, J. M. Dambrosia et al., “Quantitative analysis of cerebral vasculopathy in patients with Fabry disease,” Neurology, vol. 50, no. 6, pp. 1746–1749, 1998. View at Scopus
  27. R. P. Grewal and S. K. McLatchey, “Cerebrovascular manifestations in a female carrier of Fabry's disease,” Acta Neurologica Belgica, vol. 92, no. 1, pp. 36–40, 1992. View at Scopus
  28. P. Mitsias and S. R. Levine, “Cerebrovascular complications of Fabry's disease,” Annals of Neurology, vol. 40, no. 1, pp. 8–17, 1996. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  29. D. F. Moore, G. Altarescu, W. C. Barker, N. J. Patronas, P. Herscovitch, and R. Schiffmann, “White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions,” Brain Research Bulletin, vol. 62, no. 3, pp. 231–240, 2003. View at Publisher · View at Google Scholar · View at Scopus
  30. G. Tedeschi, S. Bonavita, T. K. Banerjee, A. Virta, and R. Schiffmann, “Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study,” Neurology, vol. 52, no. 8, pp. 1663–1667, 1999. View at Scopus
  31. S. Marino, W. Borsini, S. Buchner et al., “Diffuse structural and metabolic brain changes in Fabry disease,” Journal of Neurology, vol. 253, no. 4, pp. 434–440, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  32. D. F. Moore, F. Ye, R. Schiffmann, and J. A. Butman, “Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease,” American Journal of Neuroradiology, vol. 24, no. 6, pp. 1096–1101, 2003. View at Scopus
  33. A. P. Burlina, R. Manara, C. Caillaud et al., “The pulvinar sign: frequency and clinical correlations in Fabry disease,” Journal of Neurology, vol. 255, no. 5, pp. 738–744, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  34. A. Fellgiebel, I. Keller, D. Marin et al., “Diagnostic utility of different MRI and MR angiography measures in Fabry disease,” Neurology, vol. 72, no. 1, pp. 63–68, 2009. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  35. S. Gupta, M. Ries, S. Kotsopoulos, and R. Schiffmann, “The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women,” Medicine, vol. 84, no. 5, pp. 261–268, 2005. View at Publisher · View at Google Scholar
  36. R. P. Grewal, “Stroke in Fabry's disease,” Journal of Neurology, vol. 241, no. 3, pp. 153–156, 1994.
  37. A. Mehta and L. Ginsberg, “Natural history of the cerebrovascular complications of Fabry disease,” Acta Paediatrica, vol. 94, no. 447, pp. 24–27, 2005. View at Publisher · View at Google Scholar
  38. A. Rolfs, T. Böttcher, M. Zschiesche et al., “Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study,” Lancet, vol. 366, no. 9499, pp. 1794–1796, 2005. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  39. R. Schiffmann and M. Ries, “Fabry's disease—an important risk factor for stroke,” Lancet, vol. 366, no. 9499, pp. 1754–1756, 2005. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  40. R. Brouns, R. Sheorajpanday, E. Braxel et al., “Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke,” Clinical Neurology and Neurosurgery, vol. 109, no. 6, pp. 479–484, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  41. M. V. Baptista, S. Ferreira, T. Pinho-E-Melo et al., “Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study—screening genetic conditions in Portuguese young STROKE patients,” Stroke, vol. 41, no. 3, pp. 431–436, 2010. View at Publisher · View at Google Scholar · View at PubMed
  42. M. A. Wozniak, S. J. Kittner, S. Tuhrim et al., “Frequency of unrecognized fabry disease among young european-american and african-american men with first ischemic stroke,” Stroke, vol. 41, no. 1, pp. 78–81, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  43. R. Y. Wang, A. Lelis, J. Mirocha, and W. R. Wilcox, “Heterozygous Fabry women are not just “carriers”, but have a significant burden of disease and impaired quality of life,” Genetics in Medicine, vol. 9, no. 1, pp. 34–45, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  44. J. Galanos, K. Nicholls, L. Grigg, L. Kiers, A. Crawford, and G. Becker, “Clinical features of Fabry's disease in Australian patients,” Internal Medicine Journal, vol. 32, no. 12, pp. 575–584, 2002. View at Publisher · View at Google Scholar · View at Scopus
  45. R. J. Desnick, K. Y. Allen, S. J. Desnick, M. K. Raman, R. W. Bernlohr, and W. Krivit, “Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes,” The Journal of Laboratory and Clinical Medicine, vol. 81, no. 2, pp. 157–171, 1973.
  46. G. E. Linthorst and B. J. H. M. Poorthuis, “Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results,” Journal of the American College of Cardiology, vol. 51, no. 21, p. 2082, 2008. View at Publisher · View at Google Scholar · View at PubMed
  47. I. B. van den Veyver, “Skewed X inactivation in X-linked disorders,” Seminars in Reproductive Medicine, vol. 19, pp. 183–191, 2001.
  48. W. L. Hwu, Y. H. Chien, N. C. Lee et al., “Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A(IVS4+919G>A),” Human mutation, vol. 30, no. 10, pp. 1397–1405, 2009.
  49. H. Y. Lin, K. W. Chong, J. H. Hsu et al., “High incidence of the cardiac variant of fabry disease revealed by newborn screening in the Taiwan Chinese population,” Circulation, vol. 2, no. 5, pp. 450–456, 2009. View at Publisher · View at Google Scholar · View at PubMed
  50. M. Spada, S. Pagliardini, M. Yasuda et al., “High incidence of later-onset Fabry disease revealed by newborn screening,” American Journal of Human Genetics, vol. 79, no. 1, pp. 31–40, 2006. View at Publisher · View at Google Scholar · View at PubMed
  51. G. E. Linthorst, M. G. Bouwman, F. A. Wijburg, J. M. F. G. Aerts, B. J. H. M. Poorthuis, and C. E. M. Hollak, “Screening for Fabry disease in high-risk populations: a systematic review,” Journal of Medical Genetics, vol. 47, no. 4, pp. 217–222, 2010. View at Publisher · View at Google Scholar · View at PubMed
  52. A. Rolfs, P. Martus, P. U. Heuschmann et al., “Protocol and methodology of the stroke in young fabry patients (sifap1) study: a prospective multicenter european study of 5,024 young stroke patients aged 18–55 years,” Cerebrovascular Diseases, vol. 31, no. 3, pp. 253–262, 2011. View at Publisher · View at Google Scholar · View at PubMed
  53. C. M. Eng, N. Guffon, W. R. Wilcox et al., “Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease,” New England Journal of Medicine, vol. 345, no. 1, pp. 9–16, 2001. View at Publisher · View at Google Scholar · View at PubMed
  54. P. Rozenfeld and P. M. Neumann, “Treatment of Fabry disease: current and emerging strategies,” Current Pharmaceutical Biotechnology, vol. 12, no. 6, pp. 916–922, 2011.
  55. M. Banikazemi, J. Bultas, S. Waldek et al., “Agalsidase-beta therapy for advanced fabry disease: a randomized trial,” Annals of Internal Medicine, vol. 146, no. 2, pp. 77–86, 2007.
  56. M. Teitcher, S. Weinerman, C. Whybra et al., “Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease,” Genetica, vol. 134, no. 3, pp. 377–383, 2008. View at Publisher · View at Google Scholar · View at PubMed
  57. S. Gupta, M. Ries, S. Kotsopoulos, and R. Schiffmann, “The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women,” Medicine, vol. 84, no. 5, pp. 261–268, 2005. View at Publisher · View at Google Scholar
  58. D. P. Germain, S. Waldek, M. Banikazemi et al., “Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease,” Journal of the American Society of Nephrology, vol. 18, no. 5, pp. 1547–1557, 2007. View at Publisher · View at Google Scholar · View at PubMed