Fabry disease: A review of current management strategies

QJM: An International Journal of Medicine

Volumn 103, Issue 9, 2010, Pages 641-659

  Mehta, A ^a   Beck, M ^b   Eyskens, F ^c   Feliciani, C ^d   Kantola, I ^e   Ramaswami, U ^f   Rolfs, A ^g   Rivera, A ^h   Waldek, S ⁱ   Germain, D P ^j  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c MIDDELHEIM HOSPITAL   (Belgium)

^d CATHOLIC UNIVERSITY   (Italy)

^e TURKU UNIVERSITY HOSPITAL   (Finland)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g ROSTOCK UNIVERSITY MEDICAL CENTER   (Germany)

^h UNIVERSITY OF VIGO   (Spain)

ⁱ SALFORD ROYAL NHS FOUNDATION TRUST   (United Kingdom)

^j LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; CARBAMAZEPINE; GABAPENTIN; GLOBOTRIAOSYLCERAMIDE; NONSTEROID ANTIINFLAMMATORY AGENT; PHENYTOIN; TOPIRAMATE; TRICYCLIC ANTIDEPRESSANT AGENT;

ADRENAL DISEASE; CEREBROVASCULAR DISEASE; DISEASE SEVERITY; DRUG EFFICACY; ENZYME REPLACEMENT; EYE DISEASE; FABRY DISEASE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; HEARING DISORDER; HEART DISEASE; HEART FUNCTION; HUMAN; LIFE EXPECTANCY; NEUROLOGIC DISEASE; NONHUMAN; PAIN; PRIORITY JOURNAL; REVIEW;

EID: 77955878746     PISSN: 14602725     EISSN: 14602393     Source Type: Journal    
DOI: 10.1093/qjmed/hcq117     Document Type: Review

References (170)

1. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. J Am Med Assoc 1999;281:249-54.
2. Vellodi A. Lysosomal storage disorders. Br J Haematol 2005;128:413-31.
3. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds, The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 2001:37-74.
4. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004; 12:87-92.
5. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105:151-6.
6. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79:31-40.
7. Germain DP. Fabry disease. Orphanet J Rare Dis, 2010. in press.
8. Zarate YA, Hopkin RJ. Lysosomal storage disease 3: Fabry's disease. Lancet 2008; 372:1427-5.
9. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 2004; 337:319-35.
10. Schaefer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, et al. Thirty four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat 2005; 25:412.
11. Garman SC. Structure-function relationships in alpha-galactosidase A. Acta Paediatr Suppl 2007; 96:6-16.
12. Germain DP, Poenaru L. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mis-matches. Biochem Biophys Res Commun 1999; 257:708-13.
13. Shabbeer J, Yasuda M, Luca E, Desnick RJ. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. Mol Genet Metab 2002; 76:23-30.
14. Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001; 24:715-24.
15. Whybra C, Wendrich K, Ries M, Gal A, Beck M. Clinical manifestation in female Fabry disease patients. Contrib Nephrol 2001; 136:245-50.
16. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34:236-42.
17. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 2003; 26:617-27.
18. Guffon N. Clinical presentation in female patients with Fabry disease. J Med Genet 2003; 40:e38.
19. Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di R, et al. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet 2003; 40:e103.
20. Rodriguez-Mari A, Coll MJ, Chabas A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat 2003; 22:258.
21. Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006; 43:347-52.
22. Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 2007; 9:34-45.
23. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008; 93:112-28.
24. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961; 190:372-3.
25. Lyon MF. X-chromosome inactivation and human genetic disease. Acta Paediatr 2002; 91(Suppl 439):107-12.
26. Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatrica 2006; 95(Suppl 451):30-8.
27. Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase gene in the Czech and Slovak population. J Mol Med 2005; 83:647-54.
28. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38:769-75.
29. Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95:86-92.
30. Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003; 162:767-72.
31. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750-60.
32. Gold KF, Pastores GM, Botteman MF, Yeh JM, Sweeney S, Aliski W, et al. Quality of life of patients with Fabry disease. Qual Life Res 2002; 11:317-27.
33. Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual Life Res 2002; 11:127-33.
34. Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med 2006; 8:346-53.
35. Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH. Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 2007; 30:943-51.
36. Beck M, Ricci R, Widmer U, Dehout F, de Lorenzo AG, Kampmann C, et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 2004; 34:838-44.
37. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001; 345:9-16.
38. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. J Am Med Assoc 2001; 285:2743-9.
39. Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine 2002; 81:122-38.
40. Spinelli L, Pisani A, Sabbatini M, Petretta M, Andreucci MV, Procaccini D, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 2004; 66:158-65.
41. Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 2004; 62:1066-72.
42. Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore DF, Sharabi Y, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003; 28:703-10.
43. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, et al. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 2005; 42:247-52.
44. Hajioff D, Hegemann S, Conti G, Beck M, Sunder-Plassmass G, Widmer U, et al. Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 2006; 36:663-7.
45. Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta A, Sunder-Plassmann G. Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin Nephrol 2006; 66:77-84.
46. Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007; 5:1447-53.
47. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A. 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 2007; 23:535-42.
48. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138:338-46.
49. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopking RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006; 8:539-48.
50. Hughes DA, Ramaswami U, Elliott P, Deegan P, Lee P, Waldek S, et al. Guidelines for the diagnosis and management of Anderson-Fabry disease. 2005. (Accessed 12 July 2010 http://www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_4118408.pdf).
51. afssaps. Prise en charge médicamenteuse de la maladie de Fabry. 2007. (Accessed 12 July 2010 http://www.afssaps.fr/Infos-de-securite/Mises-au-point/Prise-en-chargemedicamenteuse-de-la-maladie-de-Fabry-Mise-au-point/(language)/fre-FR).
52. Mehta A. New developments in the management of Anderson-Fabry disease. Q J Med 2002; 95:647-53.
53. Schaefer RM, Tylki-Szymanska A, Hilz MJ. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 2009; 69:2179-203.
54. Linthorst GE, De Rie MA, Tjiam KH, Aerts JM, Dingemans KP, Hollak CE. Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion. Br J Dermatol 2004; 150:575-7.
55. Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 2007; 30:68-78.
56. Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatrica 2005; 94:51-4.
57. Linthorst GE, Poorthuis BJ, Hollak CE. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results. J Am Coll Cardiol 2008; 51:2082.
58. Eyskens F, De Deyn PP. Belgian Fabry Stroke Study (BEFAS): a national, multicentre, prospective study on the prevalence of Fabry disease in young patients with stroke. Mol Genet Met 2009; 98:1.
59. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003; 64:801-7.
60. Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtländer T, Auinger M, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15:1323-9.
61. Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, et al. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol 2005; 64:281-7.
62. Terryn W, Poppe B, Wuyts B, Claes K, Maes B, Verbeelen D, et al. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. Nephrol Dial Transplant 2008; 23:294-300.
63. Merta M, Reiterova J, Ledvinova J, Poupetová H, Dobrovolny R, Rysavá R, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007; 22:179-86.
64. De Schoenmakere G, Poppe B, Wuyts B, Claes K, Cassiman D, Maes B, et al. Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. Nephrol Dial Transplant 2008; 23:4044-8.
65. Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, et al. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 2008; 3:139-45.
66. Linthorst GE, Bouman MG, Wijburg FA, Aerts JM, Porthuis BJ, Hollak CE. Screening for Fabry disease in high risk populations: a systematic review. J Med Genet 2009. September 24 (Epub ahead of print).
67. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333:288-93.
68. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105:1407-11.
69. Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, García-Honrubia A, Pérez I, et al. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2007; 50:2399-403.
70. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366:1794-6.
71. Brouns R, Sheorajpanday R, Braxel E, Eyskens F, Baker R, Hughes D, et al. Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke. Clin Neurol Neurosurg 2007; 109:479-84.
72. Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, et al. Belgian Fabry Study. Prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010. 1 April (Epub ahead of print; doi:10.1161/STROKEAHA.110.579409).
73. Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, et al. Frequency of unrecognised Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 2010; 41:78-81.
74. Vedder AC, Gerdes VE, Poorthuis BJ, Helmond M, Trip MD, Aerts JM, et al. Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males. J Inherit Metab Dis 2007; 30:988.
75. Hauser AC, Lorenz M, Voigtlander T, Fodinger M, Sunder-Plassmann G. Results of an ophthalmologic screening programme for identification of cases with Anderson-Fabry disease. Ophthalmologica 2004; 218:207-9.
76. Auray-Blais C, Cyr D, Drouin R. Quebec neonatal mass urinary screening programme: from micromolecules to macro-molecules. J Inherit Metab Dis 2007; 30:515-21.
77. Auray-Blais C, Cyr D, Mills K, Giguere R, Drouin R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis 2007; 30:106.
78. Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc Hematol Agents Med Chem 2006; 4:289-97.
79. Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006; 29:397-404.
80. Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004; 50:1785-96.
81. Fuller M, Lovejoy M, Brooks DA, Harkin ML, Hopwood JJ, Meikle PJ. Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease. Clin Chem 2004; 50:1979-85.
82. Hwu WL, Chien YH, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A. Hum Mutat 2009; 30:1397-405.
83. Caudron E, Moliere D, Zhou JY, Prognon P, Germain DP. Recent advances of Fabry disease screening for at risk population. Med Sci 2005; 21(11 Suppl):48-50.
84. Lukacs Z, Keil A, Kohlschütter A, Beck M, Mengel E. The ratio of α-galactosidase to β-glucuronidase activities in dried blood for the identification of female Fabry disease patients. J Inherit Metab Dis 2005; 28:803-5.
85. Kitagawa T, Suzuki K, Ishige N, Ohashi T, Kobayashi M, Eto Y, et al. Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes. Pediatr Nephrol 2008; 23:1461-71.
86. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008; 64: 550-5.
87. Tøndel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 2008; 51:767-76.
88. 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.
89. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet 2009; 46:548-52.
90. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009; 11:790-6.
91. Frustaci A, Chimenti C. Images in cardiovascular medicine. Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: prominent infiltration of cardiac conduction tissue. Circulation 2007; 116:350-1.
92. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007; 28:1228-35.
93. Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 2005; 96:842-6.
94. Barbey F, Brakch N, Linhart A, Rosenblatt-Velin N, Jeanrenaud X, Qanadli S, et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 2006; 26:839-44.
95. Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 2008; 97:463-9.
96. Buechner S, Moretti M, Burlina AP, Cei G, Manara R, Ricci R, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 2008; 79:1249-54.
97. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996; 40:8-17.
98. Grewal RP. Stroke in Fabry's disease. J Neurol 1994; 241:153-6.
99. Mehta A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr Suppl 2005; 94:24-7.
100. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40:788-94.
101. Burlina AP, Manara R, Caillaud C, Laissy JP, Severino M, Klein I, et al. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol 2008; 255:738-44.
102. Galanos J, Nicholls K, Grigg L, Kiers L, Crawford A, Becker G. Clinical features of Fabry's disease in Australian patients. Intern Med J 2002; 32:575-84.
103. Breathnach SM, Black MM, Wallace HJ. Anderson-Fabry disease. Characteristic ultrastructural features in cutaneous blood vessels in a 1-year-old boy. Br J Dermatol 1980; 103:81-4.
104. 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.
105. Navarro C, Teijeira S, Dominguez C, Fernandez JM, Rivas E, Fachal C, et al. Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients. Acta Neuropathol 2006; 111:178-85.
106. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol 2007; 157:331-7.
107. Wraith JE. Lysosomal disorders. Semin Neonatal 2002; 7:75-83.
108. Cox-Brinkman J, Vedder A, Hollak C, Ritchfield L, Mehta A, Orteu K, et al. Three-dimensional face shape in Fabry disease. Eur J Hum Genet 2007; 15:535-42.
109. Sodi A, Ioannidis AS, Mehta A, Davey C, Beck M, Pitz S. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:210-14.
110. Allen LE, Cosgrave EM, Kersey JP, Ramaswami U. Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity. Br J Ophthalmol 2010. [Epub ahead of print 24 June 2010; doi:10.1136/bjo.2009.176651].
111. Germain DP, Avan P, Chassaing A, Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002; 3:10.
112. Hegemann S, Hajioff D, Conti G, Beck M, Sunder-Plassmann G, Widmer U, et al. Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 2006; 36:654-62.
113. Keilmann A, Hajioff D, Ramaswami U, FOS investigators. Ear symptoms in children with Fabry disease: data from Fabry Outcome Survey. J Inherit Metab Dis 2009; 32:739-44.
114. Shelley ED, Shelley WB, Kurczynski TW. Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol 1995; 12:215-9.
115. Lidove O, Ramaswami U, Jaussaud R, Barbey F, Maisonobe T, Caillaud C, et al. Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey. Int J Clin Pract 2006; 60:1053-9.
116. Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z. Cardiopulmonary exercise testing in Fabry disease. Respiration 2005; 72:504-11.
117. Magage S, Lubanda JC, Susa Z, Bultas J, Karetová D, Dobrovolný R, et al. Natural history of the respiratory involvement in Anderson-Fabry disease. J Inherit Metab Dis 2007; 30:790-9.
118. Germain DP, Benistan K, Boutouyrie P, Mutschler C. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005; 68:93-5.
119. Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C, et al. Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. Kidney Int 2005; 67:1955-60.
120. Beck M. Agalsidase alfa - a preparation for enzyme replacement therapy in Anderson-Fabry disease. Expert Opin Investig Drugs 2002; 11:851-8.
121. Schiffmann R, Askari H, Timmons M, Robinson C, Benko W, Brady RO, et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol 2007; 18:1576-83.
122. Lubanda J-C, Anijalg E, Bzdúch V, Thurberg BL, Bénichou B, Tylki-Szymanska A. Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta, during enzyme replacement therapy in patients with Fabry disease. Genet Med 2009; 11:256-64.
123. Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008; 152:563-70.
124. Ramaswami U, Wendt S, Pintos-Morell G, Parini R, Whybra C, Leon Leal JA, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr 2007; 96:122-7.
125. Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006; 118:924-32.
126. Schiffmann R, Martin R, 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.
127. Sirrs SM, West ML, Flowerdue G, Lemoine K, Bichet D, Casey R, et al. The Canadian Fabry Disease Initiative: a randomized controlled trial of agalsidase therapy in Fabry disease. Mol Genet Metab 2009; 98:2.
128. West M, LeMoine KM, Bichet DG, Clarke JT, Casey R, Sirrs S, et al. A randomized controlled trial of enzyme replacement therapy in Fabry nephropathy. The Canadian Fabry Disease Initiative at year two Abstract presented at the 2nd Annual Meeting and Exposition of the American Society of Nephrology (ASN): Renal Week 2009, San Diego, CA, USA. October 27-November 1, 2009.
129. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plasmann 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.
130. Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007; 18:1547-57.
131. Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, et al. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index. Clin Genet 2008; 74:260-6.
132. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146:77-86.
133. Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 2008; 94:153-8.
134. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003; 108:1299-301.
135. Kalliokoski RJ, Kantola I, Kalliokoski KK, Engblom E, Sundell J, Hannukainen JC, et al. The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis 2006; 29:112-8.
136. Koskenvuo JW, Hartiala JJ, Nuntila P, Kalliokoski R, Viikari JS, Engblom E, et al. Twenty-four-month alpha galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis 2008; 31:432-41.
137. Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Störk S, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009; 119:524-9.
138. Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW. Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Circulation 2009; 119:2561-7.
139. 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.
140. Dehout F, Schwarting A, Beck M, Mehta A, Ricci R, Widmer U. Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data. Acta Paediatr Suppl 2003; 92:14-5.
141. Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004; 75:65-74.
142. West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009; 20:1132-9.
143. Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 2006; 69:1216-21.
144. Feriozzi S, Schwarting A, Sunder-Plassmann G, West M, Cybulla M. Agalsidase alfa slows the decline in renal function in patients with Fabry disease. Am J Nephrol 2009; 29:353-61.
145. Mignani R, Panichi V, Giudicissi A, Taccola D, Boscaro F, Feletti C, et al. Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int 2004; 65:1381-5.
146. Mignani R, Feriozzi S, Pisani A, Cioni A, Comotti C, Cossu M, et al. Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy. Nephrol Dial Transplant 2008; 23:1628-35.
147. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, et al. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68:711-22.
148. Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab 2005; 85:255-9.
149. Kim W, Pyeritz RE, Bernhardt BA, Casey M, Litt HI. Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy. Am J Med Genet A 2007; 143:377-81.
150. Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001; 104:1506-12.
151. Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33:525-31.
152. Jardim LB, Gomes I, Netto CB, Nora DB, Matte US, Pereira F, et al. Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. J Inherit Metab Dis 2006; 29:653-9.
153. Whybra C, Miebach E, Mengel E, Gal A, Gal A, Baron K, 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.
154. Replagal Summary of Product Characteristics. 2010. [http://emc.medicines.org.uk/medicine/19760/SPC/Replagal+1mg+ml+concentrate+for+solution+for+infusion/] Accessed 26 February 2010.
155. Barbey F, Lidove O, Schwarting A. Fabry nepropathy: 5 years of enzyme replacement therapy-a short review. Nephrol Dial Transplant 2008; 1:11-9.
156. Cousins A, Lee P, Rorman D, Raas-Rothschild A, Banikazemi M, Waldek S, et al. Home-based infusion therapy for patients with Fabry disease. Br J Nurs 2008; 17:653-7.
157. Linthorst GE, Vedder AC, Ormel EE, Aerts JM, Hollak CE. Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. Nephrol Dial Transplant 2006; 21:355-60.
158. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006; 21:345-54.
159. Fabrazyme Summary of Product Characteristics. 2010. [http://emc.medicines.org.uk/medicine/18404/SPC/Fabrazyme+35+mg%2c+powder+for+concentrate+for+solution+for+infusion/] Accessed 26 February 2010.
160. Pastores GM, Boyd E, Crandall K, Whelan A, Piersall L, Barnett N. Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease. Nephrol Dial Transplant 2007; 22:1920-5.
161. Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP. Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme. Genet Med 2008; 10:353-8.
162. Germain DP. Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations. J Soc Biol 2002; 196:183-90.
163. Ojo A, Meier-Kriesche HU, Friedman G, Hanson J, Cibrik D, Leichtman A, et al. Excellent outcome of renal transplantation in patients with Fabry's disease. Transplantation 2000; 69:2337-9.
164. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007; 93:528-35.
165. 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.
166. Ries M, Mengel E, Kutschke G, Kim KS, Birklein F, Krummenauer F, et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 2003; 26:413-4.
167. Lenoir G, Rivron M, Gubler MC, Dufier JL, Tome FS, Guivarch M. Fabry's disease. Carbamazepine therapy in acrodyniform syndrome. Arch Fr Pediatr 1977; 34:704-16.
168. Ishii S, Chang H-W, Kawasaki K, Yasuda K, Wu HL, Garman SC, et al. Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J 2007; 406:285-95.
169. Shin SH, Kluepfel-Stahl S, Cooney AM, Kaneski CR, Quirk JM, Schiffmann R, et al. Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. Pharmacogenet Genomics 2008; 18:773-80.
170. Germain DP, Fan JQ. Pharmacological chaperone therapy by active-site specific chaperones in Fabry disease: in vitro and preclinical studies. Int J Clin Pharmacol Therap 2009; 47(Suppl 1):S111-7.