Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: A retrospective cohort study of the Fabry Münster Study (FaMüS) data

BMJ Open

Volumn 2, Issue 6, 2012, Pages

  Engelen, Markus A ^a   Brand, Eva ^a   Baumeister, Timo B ^a   Marquardt, T ^a   Duning, Thomas ^a   Osada, Nani ^b   Schaefer, Roland M ^a   Stypmann, Joerg ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA;

ADULT; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIASTOLIC BLOOD PRESSURE; DOPPLER ECHO; DOPPLER ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; FOLLOW UP; HEART FUNCTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART LEFT VENTRICLE FUNCTION; HEART LEFT VENTRICLE MASS; HEART LEFT VENTRICLE WALL; HEART VENTRICLE SEPTUM; HUMAN; MALE; OUTCOME ASSESSMENT; OUTPATIENT DEPARTMENT; QRS COMPLEX; STATISTICAL SIGNIFICANCE; SYSTOLIC BLOOD PRESSURE; ULTRASOUND SCANNER;

EID: 84871031500     PISSN: None     EISSN: 20446055     Source Type: Journal    
DOI: 10.1136/bmjopen-2012-000879     Document Type: Article

References (39)

1. Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163-7.
2. Kint JA. Fabry's disease: alpha-galactosidase deficiency. Science 1970;167:1268-9.
3. Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994;3:103-11. (Pubitemid 24077226)
4. Eng CM, Fletcher J, Wilcox WR, 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. (Pubitemid 46487999)
5. Desnick RJ, Brady R, Barranger J, 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. (Pubitemid 36205932)
6. Sodi A, Ioannidis AS, Mehta A, et al. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007;91:210-14. (Pubitemid 46202871)
7. Mehta A, Clarke JT, Giugliani R, 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.
8. Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75:65-74.
9. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007;146:77-86. (Pubitemid 351640010)
10. Eng CM, Banikazemi M, Gordon RE, 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. (Pubitemid 32202764)
11. Eng CM, Guffon N, Wilcox WR, 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. (Pubitemid 32634266)
12. Thurberg BL, Randolph Byers H, Granter SR, et al. Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies. J Invest Dermatol 2004;122:900-8. (Pubitemid 38580992)
13. Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002;62:1933-46. (Pubitemid 35366149)
14. MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 2001;24(Suppl 2):13-14; discussion 11-12.
15. 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. (Pubitemid 33032930)
16. 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. (Pubitemid 33032933)
17. Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008;372:1427-35.
18. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42. (Pubitemid 38406640)
19. Wang RY, Lelis A, Mirocha J, et al. 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. (Pubitemid 46115959)
20. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008;93:112-28.
21. Devereux RB, Alonso DR, Lutas EM, et al. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 1986;57:450-8. (Pubitemid 16119719)
22. Batista EC, Carvalho LR, Casarini DE, et al. ACE activity is modulated by the enzyme alpha-galactosidase A. J Mol Med (Berl) 2011;89:65-74.
23. Mehta A, Beck M, Elliott P, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009;374:1986-96.
24. Koskenvuo JW, Hartiala JJ, Nuutila P, 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.
25. Kovacevic-Preradovic T, Zuber M, Attenhofer Jost CH, et al. Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy. Eur J Echocardiogr 2008;9:729-35.
26. Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 2004;66:158-65. (Pubitemid 39117524)
27. Imbriaco M, Pisani A, Spinelli L, et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 2009;95:1103-7.
28. Baehner F, Kampmann C, Whybra C, et al. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 2003;26:617-27. (Pubitemid 38008966)
29. Weidemann F, Breunig F, Beer M, 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. (Pubitemid 37174405)
30. Weidemann F, Niemann M, Breunig F, 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.
31. Hoigne P, Attenhofer Jost CH, Duru F, et al. Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy. Int J Cardiol 2006;111:413-22. (Pubitemid 44205296)
32. Toro R, Perez-Isla L, Doxastaquis G, et al. Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy. Int J Cardiol 2009;132:38-44.
33. Pieroni M, Chimenti C, Ricci R, et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003;107:1978-84. (Pubitemid 36506070)
34. Takenaka T, Teraguchi H, Yoshida A, et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol 2008;51:50-9. (Pubitemid 351699928)
35. Weidemann F, Linhart A, Monserrat L, et al. Cardiac challenges in patients with Fabry disease. Int J Cardiol 2010;141:3-10.
36. Kampmann C, Linhart A, Baehner F, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008;130:367-73.
37. Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM 2010;103:641-59.
38. Lee CJ, Fan X, Guo X, et al. Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease. J Cardiol 2011;57:115-22.
39. Choi JO, Lee MH, Park HY, et al. Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer. J Biomed Sci 2010;17:26.