Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

Genetics in Medicine

Volumn 11, Issue 11, 2009, Pages 790-796

  Waldek, Stephen ^a   Patel, Manesh R ^b   Banikazemi, Maryam ^c   Lemay, Roberta ^d   Lee, Philip ^e  

^a SALFORD ROYAL NHS FOUNDATION TRUST   (United Kingdom)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c College of Physicians and Surgeons ^*  (United States)

^d GENZYME CORPORATION   (United States)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

galactosidase A; Anderson Fabry disease; Cardiovascular; Longevity; Lysosomal storage disease

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CARDIOVASCULAR DISEASE; CAUSE OF DEATH; CHILD; FABRY DISEASE; FEMALE; HUMAN; INFANT; KIDNEY FAILURE; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; MALE; NEWBORN; PRESCHOOL CHILD; PROGNOSIS; REGISTER; RENAL REPLACEMENT THERAPY; SCHOOL CHILD; SEX DIFFERENCE; UNITED STATES;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CAUSE OF DEATH; CHILD; FABRY DISEASE; FEMALE; HUMANS; LIFE EXPECTANCY; MALE; MIDDLE AGED; REGISTRIES; YOUNG ADULT;

EID: 73849102063     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181bb05bb     Document Type: Article

References (36)

1. Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase a deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, ValleD, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill, 2001:3733-3774.
2. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalance of lysosomal storage disorders. JAMA 1999;281:249-254.
3. Ries M, RamaswamiU, PariniR, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003;162:767-772.
4. Ries M, Gupta S, Moore DF, et al. Pediatric Fabry disease. Pediatrics 2005;115:e344-e355.
5. Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008;64:550-555.
6. 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;38:750-760. (Pubitemid 33032930)
7. 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;38:769-775. (Pubitemid 33032933)
8. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002;81:122-138.
9. 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;34:236-242.
10. 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;93:112-128.
11. 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;40:788-794.
12. 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.
13. Vedder AC, Linthorst GE, van Breemen MJ, et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 2007;30:68-78.
14. 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;68:711-722.
15. Eng CM, Guffon N, Wilcox WR, et al; International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
16. Schiffmann R, Kopp JB, Austin HA III, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-2749.
17. 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.
18. Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547-1557.
19. West M, Nicholls K, Mehta A, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009;20:1132-1139.
20. Hughes DA, Elliott PM, Shah 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: 153-158.
21. 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;119:524-529.
22. Wise D, Wallace HJ, Jellinek EH. Angiokeratoma corporis diffusum. Q J Med 1962;31:177-206.
23. Colombi A, Kostyal A, Bracher R, et al. Angiokeratoma corporis diffusum-Fabry's disease. Helv Med Acta 1967;34:67-83.
24. Mehta A, Clark JTR, Giugliani R, et al; FOS Investigators. Natural course of Fabry diseases: changing pattern of causes of death in FOS\-the Fabry Outcome Survey. J Med Genet 2009;46:548-552.
25. Selvin S. Statistical analysis of epidemiologic data. New York: Oxford University Press, 1991:241-244.
26. Hoyert DL, Heron MP, Murphy SL, Kung HC. Deaths: final data for 2003. Natl Vital Stat Rep 2006;54:1-120.
27. Jagger C. EHEMU team; Healthy life expectancy in the EU15. Available at: http://www.ehemu.eu/index.php?option=reports. Accessed April 22, 2009.
28. Go AS, Chertow GM, Fan D, McCulloch CE, Hsu CY. Chronic kidney disease and the risks of death, cardiovascular events, and hospitalization. N Engl J Med 2004;351:1296-1305.
29. Elsayed EF, Tighiouart H, Griffith, et al. Cardiovascular disease and subsequent kidney disease. Arch Intern Med 2007;167:1130-1136.
30. Dimeny EM. Cardiovascular disease after renal transplantation. Kidney Int Suppl 2002;80:78-84.
31. Wanner C, Zimmermann J, Schwedler S, Metzger T. Inflammation and cardiovascular risk in dialysis patients. Kidney Int Suppl 2002;80:99-102.
32. Chimenti C, Hamdani N, Boontje NM, et al. Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease. Am J Pathol 2008; 172:1482-1490.
33. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-548.
34. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-1411.
35. Monserrat L, Gimeno-Blanes JR, Marín F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2007;50:2399-2403.
36. Banikazemi M, Bultas J, Waldek S, et al; Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced Fabry disease. Ann Intern Med 2007;146:77-86.