Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment (original) (raw)

References

  1. Clarke JT (2007) Narrative review: Fabry disease. Ann Intern Med 146:425–433
    PubMed Google Scholar
  2. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 345:9–16
    CAS PubMed Google Scholar
  3. Rao DA, Lakdawala NK, Miller AL, Loscalzo J (2013) Clinical problem-solving. In the thick of it. N Engl J Med 368:1732–1738
    CAS PubMed Google Scholar
  4. Arbustini E, Narula N, Dec GW, Reddy KS, Greenberg B, Kushwaha S et al (2013) The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the world heart federation. J Am Coll Cardiol 62:2046–2072
    PubMed Google Scholar
  5. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A (2007) Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy—a retrospective analysis from the Fabry outcome survey. Clin J Pain 23:535–542
    PubMed Google Scholar
  6. Keshav S (2006) Gastrointestinal manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS, chap 28. Oxford PharmaGenesis, Oxford
  7. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G et al (2007) Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol 157:331–337
    CAS PubMed Google Scholar
  8. Samiy N (2008) Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol 53:416–423
    PubMed Google Scholar
  9. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M et al (2009) Natural course of Fabry disease: changing pattern of causes of death in FOS—Fabry outcome survey. J Med Genet 46:548–552
    CAS PubMed Google Scholar
  10. Oqvist B, Brenner BM, Oliveira JP, Ortiz A, Schaefer R, Svarstad E et al (2009) Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol Dial Transpl 24:1736–1743
    Google Scholar
  11. Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ (2000) Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 48:227–235
    CAS PubMed Google Scholar
  12. Germain DP (2001) A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib Nephrol (136): 234–240
  13. Grunfeld JP, Lidove O, Joly D, Barbey F (2001) Renal disease in Fabry patients. J Inherit Metab Dis 24(Suppl 2):71–74
    PubMed Google Scholar
  14. Branton M, Schiffmann R, Kopp JB (2002) Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S139–S143
    PubMed Google Scholar
  15. Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudova J, Karetova D et al (2000) New insights in cardiac structural changes in patients with Fabry’s disease. Am Heart J 139:1101–1108
    CAS PubMed Google Scholar
  16. Linhart A, Lubanda JC, Palecek T, Bultas J, Karetova D, Ledvinova J et al (2001) Cardiac manifestations in Fabry disease. J Inherit Metab Dis 24(Suppl 2):75–83
    PubMed Google Scholar
  17. Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Arnao V, Licata G et al (2013) Neurological complications of Anderson-Fabry disease. Curr Pharm Des 19:6014–6030
    CAS PubMed Google Scholar
  18. Elleder M, Dorazilova V, Bradova V, Belohlavek M, Kral V, Choura M et al (1990) Fabry’s disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy. Cas Lek Cesk 129:369–372
    CAS PubMed Google Scholar
  19. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG et al (1991) An atypical variant of Fabry’s disease with manifestations confined to the myocardium. N Engl J Med 324:395–399
    Google Scholar
  20. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M et al (1995) An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 333:288–293
    CAS PubMed Google Scholar
  21. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A et al (2007) Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 28:1228–1235
    PubMed Google Scholar
  22. Mignani R, Feriozzi S, Schaefer RM, Breunig F, Oliveira JP, Ruggenenti P et al (2010) Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy. Clin J Am Soc Nephrol 5:379–385
    PubMed Google Scholar
  23. Scriver CR (1995) The metabolic and molecular bases of inherited disease, vol II. McGraw-Hill, New York, p 2742
    Google Scholar
  24. Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S (2013) Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet 58:548–552
    CAS PubMed Google Scholar
  25. Mechtler TP, Stary S, Metz TF, De Jesus VR, Greber-Platzer S, Pollak A et al (2012) Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 379:335–341
    PubMed Google Scholar
  26. Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH et al (2009) High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2:450–456
    PubMed Google Scholar
  27. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H et al (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79:31–40
    PubMed Central CAS PubMed Google Scholar
  28. Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK et al (2011) Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” alpha-galactosidase a large deletion. Mol Genet Metab 104:314–318
    CAS PubMed Google Scholar
  29. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ et al (2002) Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105:1407–1411
    CAS PubMed Google Scholar
  30. Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, Russo MA et al (2004) Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110:1047–1053
    CAS PubMed Google Scholar
  31. Elliott P, Baker R, Pasquale F, Quarta G, Ebrahim H, Mehta AB et al (2011) Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry disease survey. Heart 97:1957–1960
    PubMed Google Scholar
  32. Havndrup O, Christiansen M, Stoevring B, Jensen M, Hoffman-Bang J, Andersen PS et al (2010) Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. Eur J Heart Fail 12:535–540
    CAS PubMed Google Scholar
  33. van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE et al (2014) A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 51:1–9
    PubMed Google Scholar
  34. Bach G, Rosenmann E, Karni A, Cohen T (1982) Pseudodeficiency of alpha-galactosidase A. Clin Genet 21:59–64
    CAS PubMed Google Scholar
  35. Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ (2003) Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat 22:486–492
    CAS PubMed Google Scholar
  36. Niemann M, Rolfs A, Stork S, Bijnens B, Breunig F, Beer M et al (2014) Gene mutations versus clinically relevant phenotypes-Lyso-Gb3 defines fabry disease. Circ Cardiovasc Genet 7:8–16
    CAS PubMed Google Scholar
  37. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769–775
    PubMed Central CAS PubMed Google Scholar
  38. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U et al (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93:112–128
    CAS PubMed Google Scholar
  39. Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J et al (2013) Fabry disease practice guidelines: recommendations of the national society of genetic counselors. J Genet Couns 22:555–564
    PubMed Google Scholar
  40. Wang RY, Lelis A, Mirocha J, Wilcox WR (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9:34–45
    CAS PubMed Google Scholar
  41. Juan P, Hernan A, Beatriz SA, Gustavo C, Antonio M, Eduardo T et al (2014) Fabry Disease: multidisciplinary evaluation after 10 years of treatment with agalsidase beta. JIMD Rep. doi:10.1007/8904_2014_310
    PubMed Central PubMed Google Scholar
  42. Anderson LJ, Wyatt KM, Henley W, Nikolaou V, Waldek S, Hughes DA et al (2014) Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. doi:10.1007/s10545-014-9717-4
    Google Scholar
  43. Desnick RJ (2007) Prenatal diagnosis of Fabry disease. Prenat Diagn 27:693–694
    PubMed Google Scholar
  44. Felker GM, Thompson RE, Hare JM, Hruban RH, Clemetson DE, Howard DL et al (2000) Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. N Engl J Med 342:1077–1084
    CAS PubMed Google Scholar
  45. Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Stork S et al (2009) Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 119:524–529
    CAS PubMed Google Scholar
  46. Shin SH, Kluepfel-Stahl S, Cooney AM, Kaneski CR, Quirk JM, Schiffmann R et al (2008) Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. Pharmacogenet Genomics 18:773–780
    PubMed Central CAS PubMed Google Scholar
  47. Linhart A (2006) The heart in Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS, chap 20. Oxford PharmaGenesis, Oxford
  48. Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M et al (2010) Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J 31:1088–1097
    PubMed Central CAS PubMed Google Scholar
  49. Sadick N, Thomas L (2007) Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study. Heart Lung Circ 16:200–206
    CAS PubMed Google Scholar
  50. Shanks M, Thompson RB, Paterson ID, Putko B, Khan A, Chan A et al (2013) Systolic and diastolic function assessment in fabry disease patients using speckle-tracking imaging and comparison with conventional echocardiographic measurements. J Am Soc Echocardiogr 26:1407–1414
    PubMed Google Scholar
  51. Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M et al (2011) Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging 4:592–601
    PubMed Google Scholar
  52. Thompson RB, Chow K, Khan A, Chan A, Shanks M, Paterson I et al (2013) T1 mapping with cardiovascular MRI is highly sensitive for fabry disease independent of hypertrophy and sex. Circ Cardiovasc Imaging 6:637–645
    PubMed Google Scholar
  53. Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M et al (2002) Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 40:1668–1674
    PubMed Google Scholar
  54. Gambarin FI, Disabella E, Narula J, Diegoli M, Grasso M, Serio A et al (2010) When should cardiologists suspect Anderson-Fabry disease? Am J Cardiol 106:1492–1499
    PubMed Google Scholar
  55. Calcagnino M, O’Mahony C, Coats C, Cardona M, Garcia A, Janagarajan K et al (2011) Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease. J Am Coll Cardiol 58:88–89
    PubMed Google Scholar
  56. Flegal KM, Carroll MD, Kit BK, Ogden CL (2012) Prevalence of obesity and trends in the distribution of body mass index among US adults, 1999–2010. JAMA 307:491–497
    PubMed Google Scholar
  57. Ogden CL, Carroll MD, Kit BK, Flegal KM (2012) Prevalence of obesity and trends in body mass index among US children and adolescents, 1999–2010. JAMA 307:483–490
    PubMed Google Scholar
  58. Chow CK, Teo KK, Rangarajan S, Islam S, Gupta R, Avezum A et al (2013) Prevalence, awareness, treatment, and control of hypertension in rural and urban communities in high-, middle-, and low-income countries. JAMA 310:959–968
    CAS PubMed Google Scholar
  59. Kalliokoski RJ, Kalliokoski KK, Sundell J, Engblom E, Penttinen M, Kantola I et al (2005) Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 28:563–573
    CAS PubMed Google Scholar
  60. Elliott PM, Kindler H, Shah JS, Sachdev B, Rimoldi OE, Thaman R et al (2006) Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 92:357–360
    PubMed Central CAS PubMed Google Scholar
  61. Barbey F, Brakch N, Linhart A, Rosenblatt-Velin N, Jeanrenaud X, Qanadli S et al (2006) Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 26:839–844
    CAS PubMed Google Scholar
  62. Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 105:2812–2817
    PubMed Central CAS PubMed Google Scholar
  63. Pochis WT, Litzow JT, King BG, Kenny D (1994) Electrophysiologic findings in Fabry’s disease with a short PR interval. Am J Cardiol 74:203–204
    CAS PubMed Google Scholar
  64. Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P et al (2005) Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 96:842–846
    PubMed Google Scholar
  65. Eckart RE, Kinney KG, Belnap CM, Le TD (2000) Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry’s disease. Review of cardiovascular manifestations. Cardiology 94:208–212
    CAS PubMed Google Scholar
  66. Acharya D, Robertson P, Kay GN, Jackson L, Warnock DG, Plumb VJ et al (2012) Arrhythmias in Fabry cardiomyopathy. Clin Cardiol 35:738–740
    PubMed Google Scholar
  67. Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M (2008) Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 97:463–469
    PubMed Google Scholar
  68. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A (2003) Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 107:1978–1984
    PubMed Google Scholar
  69. Toro R, Perez-Isla L, Doxastaquis G, Barba MA, Gallego AR, Pintos G et al (2009) Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy. Int J Cardiol 132:38–44
    PubMed Google Scholar
  70. Weidemann F, Breunig F, Beer M, Sandstede J, Stork S, Voelker W et al (2005) The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 26:1221–1227
    PubMed Google Scholar
  71. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W et al (2003) Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108:1299–1301
    CAS PubMed Google Scholar
  72. Soullier C, Obert P, Doucende G, Nottin S, Cade S, Perez-Martin A et al (2012) Exercise response in hypertrophic cardiomyopathy: blunted left ventricular deformational and twisting reserve with altered systolic-diastolic coupling. Circ Cardiovasc Imaging 5:324–332
    PubMed Google Scholar
  73. Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ et al (2003) Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 24:2151–2155
    PubMed Google Scholar
  74. Koeppe S, Neubauer H, Breunig F, Weidemann F, Wanner C, Sandstede J et al (2012) MR-based analysis of regional cardiac function in relation to cellular integrity in Fabry disease. Int J Cardiol 160:53–58
    PubMed Google Scholar
  75. Messalli G, Imbriaco M, Avitabile G, Russo R, Iodice D, Spinelli L et al (2012) Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. Radiol Med 117:19–28
    CAS PubMed Google Scholar
  76. Mewton N, Liu CY, Croisille P, Bluemke D, Lima JA (2011) Assessment of myocardial fibrosis with cardiovascular magnetic resonance. J Am Coll Cardiol 57:891–903
    PubMed Google Scholar
  77. Sado DM, White SK, Piechnik SK, Banypersad SM, Treibel T, Captur G et al (2013) Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging 6:392–398
    PubMed Google Scholar
  78. Desnick RJ, Wasserstein MP, Banikazemi M (2001) Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy. Contrib Nephrol (136):174–192
  79. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L et al (2001) A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711–722
    PubMed Central CAS PubMed Google Scholar
  80. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146:77–86
    PubMed Google Scholar
  81. Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE et al (2010) Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol 5:2220–2228
    PubMed Central PubMed Google Scholar
  82. Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M et al (2004) Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 15:1323–1329
    CAS PubMed Google Scholar
  83. University of Alabama at Birmingham. The Fabrazyme and ARBs and ACE Inhibitor Treatment (FAACET) Study. http://www.clinicaltrials.gov/ct2/show/NCT00446862. Accessed July 2 2014
  84. Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H (1967) Angiokeratoma corporis diffusum–Fabry’s disease. Helv Med Acta 34:67–83
    CAS PubMed Google Scholar
  85. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750–760
    PubMed Central CAS PubMed Google Scholar
  86. Tyson CC, Nwankwo C, Lin PH, Svetkey LP (2012) The dietary approaches to stop hypertension (DASH) eating pattern in special populations. Curr Hypertens Rep 14:388–396
    CAS PubMed Google Scholar
  87. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ et al (2006) Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8:539–548
    PubMed Google Scholar
  88. West ML, Casey R, Clarke JT, Iwanochko M, Moore DF, Sirrs S (2012) Canadian Fabry disease treatment guidelines 2012. http://www.garrod.ca/wp-content/uploads/Canadian-FD-Treatment-Guidelines-2012.pdf. Accessed July 2 2014
  89. Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O’Callaghan MW (2009) Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Circulation 119:2561–2567
    PubMed Google Scholar
  90. Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M et al (2000) Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 97:365–370
    PubMed Central CAS PubMed Google Scholar
  91. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G et al (2009) Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet 374:1986–1996
    CAS PubMed Google Scholar
  92. Alfadhel M, Sirrs S (2011) Enzyme replacement therapy for Fabry disease: some answers but more questions. Ther Clin Risk Manag 7:69–82
    PubMed Central CAS PubMed Google Scholar
  93. Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE (2014) 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 37:341–352
    CAS PubMed Google Scholar
  94. Pieroni M, Camporeale A, Della Bona R, Sabini A, Cosmi D, Magnolfi A et al (2013) Progression of Fabry cardiomyopathy despite enzyme replacement therapy. Circulation 128:1687–1688
    PubMed Google Scholar
  95. Weidemann F, Niemann M, Stork S, Breunig F, Beer M, Sommer C et al (2013) Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 274:331–341
    PubMed Central CAS PubMed Google Scholar
  96. Hersher R (2012) Small biotechs raring to cash in on the orphan disease market. Nat Med 18:330–331
    PubMed Google Scholar
  97. Murray GJ, Anver MR, Kennedy MA, Quirk JM, Schiffmann R (2007) Cellular and tissue distribution of intravenously administered agalsidase alfa. Mol Genet Metab 90:307–312
    PubMed Central CAS PubMed Google Scholar
  98. El Dib RP, Nascimento P, Pastores GM (2013) Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 2:CD006663
    PubMed Google Scholar
  99. Sirrs SM, Bichet DG, Casey R, Clarke JT, Lemoine K, Doucette S et al (2014) Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab 111:499–506
    CAS PubMed Google Scholar
  100. Guce AI, Clark NE, Rogich JJ, Garman SC (2011) The molecular basis of pharmacological chaperoning in human alpha-galactosidase. Chem Biol 18:1521–1526
    PubMed Central CAS PubMed Google Scholar
  101. Suzuki Y (2013) Chaperone therapy update: fabry disease, GM1-gangliosidosis and Gaucher disease. Brain Dev 35:515–523
    PubMed Google Scholar
  102. Benjamin ER, Khanna R, Schilling A, Flanagan JJ, Pellegrino LJ, Brignol N et al (2012) Co-administration with the pharmacological chaperone AT1001 increases recombinant human alpha-galactosidase A tissue uptake and improves substrate reduction in Fabry mice. Mol Ther 20:717–726
    PubMed Central CAS PubMed Google Scholar
  103. Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M et al (2001) Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy. N Engl J Med 345:25–32
    CAS PubMed Google Scholar
  104. Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP et al (2011) A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum Mutat 32:965–977
    PubMed Central CAS PubMed Google Scholar
  105. Siekierska A, De Baets G, Reumers J, Gallardo R, Rudyak S, Broersen K et al (2012) Alpha-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. J Biol Chem 287:28386–28397
    PubMed Central CAS PubMed Google Scholar
  106. Lee CJ, Fan X, Guo X, Medin JA (2011) Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease. J Cardiol 57:115–122
    PubMed Google Scholar
  107. Ruiz de Garibay AP, Delgado D, Del Pozo-Rodriguez A, Solinis MA, Gascon AR (2012) Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy. Drug Des Devel Ther 6:303–310
    PubMed Central CAS PubMed Google Scholar

Download references