Abstract
Fabry disease is an X linked disorder of metabolism due to deficient α-galactosidase A activity. Enzyme replacement therapy (ERT) with agalsidase Beta was approved by EMA in 2001 and FDA in 2003.
Patients and methods: Six patients were enrolled. Baseline data was measured for renal, cardiac, and cerebrovascular functioning. We compared baseline quality of life scales with the current results. These parameters were assessed during the 10 years of follow-up period.
Results: Before ERT four patients showed normal eGFR, one stage 2 of CKD, and one hyperfiltration stage. All presented microalbuminuria and just two cases showed proteinuria. After 10 years of ERT, no patient showed decrease in renal functioning. One patient decreased from proteinuria to microalbuminuria range. Before treatment one case showed left ventricular (LV) hypertrophy and LV Mass Index was abnormal in two female patients. After 10 years echocardiographic values did not present progression to LVH and one female showed regression to normal values of LV posterior wall and interventricular septum. Brain MRI showed ischemic lesions in one female and vertebrobasilar dolichoectasia in one male. From baseline and during the follow-up period MRI did not progress to new ischemic lesions and there were no clinical signs of cerebrovascular damage. After 10 years quality of life showed improvement in all domains measured.
Conclusion: Early treatment of agalsidase Beta is related to a better outcome regarding stability and regression of signs and symptoms in Fabry disease. Our results in patients with mild organ involvement showed good outcomes and support an early and continuous ERT.
Competing interests: None declared
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References
Banikazemi M, Bultas J, Waldek S, Wilcox WR et al (2007) Agalsidase beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146:77–86
Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH (2007) Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 30:943–951
Eng CM, Gurron N, Wilcox WR et al (2001) Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in Fabry’s disease. N Engl J Med 345:9–16
Fellgiebel A, Müller MJ, Mazanek M, Baron K, Beck M, Stoeter P (2005) White matter lesion severity in male and female patients with Fabry disease. Neurology 65(4):600–602
Fellgiebel A, Keller I, Martus P et al (2011) Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patients. Cerebrovasc Dis 31:294–299
Furujo M, Kubo T, Kobayashi M, Ohashi T (2013) Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness onangiokeratoma and neuropathic pain. Mol Genet Metab 110(3):405–410
Germain D (2010) Fabry disease. Orphanet J Rare Dis 5:1–49
Germain DP, Waldek S, Banikazemi M et al (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18:1547–1557
Germain DP, Weidemann F, Abiose A et al (2013) Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry. Genet Med 15:958–965
Gold KF, Pastores GM, Botteman MF et al (2002) Quality of life of patients with Fabry disease. Qual Life Res 11:317–327
Hilz MJ, Brys M, Marthol H, Stemper B, Dütsch M (2004) Enzyme replacement therapy improves function of C, Adelta, and Abeta nerve fibers in Fabryneuropathy. Neurology 62:1066–1072
Lang RM, Bierig M, Devereux RB et al (2005) Chamber Quantification Writing Group; American Society of Echocardiography’s Guidelines and Standards Committee; European Association of Echocardiography. Recommendations for chamber quantification. J Am Soc Echocardiogr 18:1440–1463
Lukas J, Giese AK, Markoff A et al (2013) Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in Fabry disease. PLoS Genet 9(8):e1003632
Miners AH, Holmes A, Sherr L, Jenkinson G, MacDermot K (2002) Assessment of health-related quality of life in males with Anderson Fabry disease before therapeutic intervention. Qual Life Res 11:127–133
Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE (2013) Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 47:1–9
Schiffmann R, Kopp JB, Austin HA 3rd et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285:2743–2749
Sergi B, Conti G, Paludetti G (2010) Interdisciplinary study group on Fabry disease. Inner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy. Acta Otorhinolaryngol Ital 30:87–93
Spada M, Pagliardini S, Yasuda M et al (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79:31–40
Street NJ, Yi MS, Bailey LA, Hopkin R (2006) 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 8:346–353
Tøndel C, Bostad L, Larsen KK et al (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 24:137–148
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
Ware JE, Snow KK, Kosinski M et al (1993) SF-36 Health Survey manual and interpretation guide. New England Medical Center, The Health Institute, Boston
Watt T, Burlina AP, Cazzorla C et al (2010) Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med 12:703–712
Weidemann F, Niemann M, Breunig F 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
Weidemann F, Sanchez-Niño MD, Politei J et al (2013a) Fibrosis: a key feature of Fabry disease with potential therapeutic implications. Orphanet J Rare Dis 8:1–12
Weidemann F, Niemann M, Störk S et al (2013b) Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 274:331–341
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Communicated by: Verena Peters
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Take-Home Message
Early treatment with enzyme replacement therapy in Fabry disease is related to a better outcome.
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Politei Juan has received speaker honorarium from Genzyme, Shire HGT and Amicus Therapeutics.
Amartino Hernan, Schenone Andrea Beatriz, Cabrera Gustavo, Michref Antonio, Tanus Eduardo, Dominguez Raul, Larralde Margarita, Blanco Mariana, Gaggioli Daniela, and Szlago Marina declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation of Juan Fernandez Hospital, Buenos Aires, Argentina and with the Helsinki Declaration of 1975, as revised in 2000.
Informed consent was obtained from all patients for being included in the study.
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All authors have contributed in the planning, conduct, and reporting of the work described in the article.
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Juan, P. et al. (2014). Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports Volume 16. JIMD Reports, vol 16. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_310
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DOI: https://doi.org/10.1007/8904_2014_310
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