Enzyme replacement therapy in Fabry disease patients undergoing dialysis: Effects on quality of life and organ involvement

Antonio Pisani, Letizia Spinelli, Massimo Sabbatini, Maria Vittoria Andreucci, Deni Procaccini, Cataldo Abbaterusso, Sonia Pasquali, Silvana Savoldi, Cristina Comotti, Bruno Cianciaruso

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

Background: Fabry disease is a lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. End-stage renal disease generally occurs around the fourth decade of age, and dialysis therapy is a life-saving procedure. For patients with Fabry disease undergoing dialysis, death usually occurs from cardiac or cerebrovascular complications. Recently, enzyme replacement therapy was introduced for treatment of the disease. Methods: We report results of several clinical outcomes after 2 years of treatment with α-Gal A in patients with Fabry disease undergoing dialysis. Nine dialysis patients underwent a complete clinical, cardiac, and cerebrovascular evaluation at baseline and after 24 months of treatment. Two patients reported a recurrent pain crisis, and 6 patients reported gastrointestinal symptoms. In all patients, enzyme replacement therapy was undertaken because of the presence of Fabry cardiomyopathy. A complete echocardiographic study was performed in 6 patients 12 and 24 months before and 12 and 24 months during enzyme replacement therapy. Results: Enzyme replacement therapy was well tolerated. Pain crises disappeared completely after approximately 6 months of treatment, and patients with gastrointestinal involvement reported improvement in symptoms after 6 to 8 months. At baseline, all patients had left ventricular concentric hypertrophy. Enzyme replacement therapy did not affect heart rate or mean arterial pressure. The mean slope of left ventricular mass index progression decreased from 0.98 ± 0.01 in the pretreatment period (24 months) to 0.46 ± 0.960 in the enzyme-replacement-therapy period (P = 0.06). Conclusion: Our observation indicates that in dialysis patients, enzyme replacement therapy is safe and effective, improving global quality of life and possibly ameliorating the progression of typical Fabry cardiomyopathy.

Original languageEnglish
Pages (from-to)120-127
Number of pages8
JournalAmerican Journal of Kidney Diseases
Volume46
Issue number1
DOIs
Publication statusPublished - Jul 2005

Fingerprint

Enzyme Replacement Therapy
Fabry Disease
Dialysis
Quality of Life
Cardiomyopathies
Galactosidases
Lysosomal Storage Diseases
Therapeutics
Pain
Left Ventricular Hypertrophy
Chronic Kidney Failure
Arterial Pressure
Heart Rate
Observation

Keywords

  • Dialysis
  • Enzyme replacement therapy
  • Fabry disease
  • Left ventricular hypertrophy

ASJC Scopus subject areas

  • Nephrology

Cite this

Pisani, A., Spinelli, L., Sabbatini, M., Andreucci, M. V., Procaccini, D., Abbaterusso, C., ... Cianciaruso, B. (2005). Enzyme replacement therapy in Fabry disease patients undergoing dialysis: Effects on quality of life and organ involvement. American Journal of Kidney Diseases, 46(1), 120-127. https://doi.org/10.1053/j.ajkd.2005.03.016

Enzyme replacement therapy in Fabry disease patients undergoing dialysis : Effects on quality of life and organ involvement. / Pisani, Antonio; Spinelli, Letizia; Sabbatini, Massimo; Andreucci, Maria Vittoria; Procaccini, Deni; Abbaterusso, Cataldo; Pasquali, Sonia; Savoldi, Silvana; Comotti, Cristina; Cianciaruso, Bruno.

In: American Journal of Kidney Diseases, Vol. 46, No. 1, 07.2005, p. 120-127.

Research output: Contribution to journalArticle

Pisani, A, Spinelli, L, Sabbatini, M, Andreucci, MV, Procaccini, D, Abbaterusso, C, Pasquali, S, Savoldi, S, Comotti, C & Cianciaruso, B 2005, 'Enzyme replacement therapy in Fabry disease patients undergoing dialysis: Effects on quality of life and organ involvement', American Journal of Kidney Diseases, vol. 46, no. 1, pp. 120-127. https://doi.org/10.1053/j.ajkd.2005.03.016
Pisani, Antonio ; Spinelli, Letizia ; Sabbatini, Massimo ; Andreucci, Maria Vittoria ; Procaccini, Deni ; Abbaterusso, Cataldo ; Pasquali, Sonia ; Savoldi, Silvana ; Comotti, Cristina ; Cianciaruso, Bruno. / Enzyme replacement therapy in Fabry disease patients undergoing dialysis : Effects on quality of life and organ involvement. In: American Journal of Kidney Diseases. 2005 ; Vol. 46, No. 1. pp. 120-127.
@article{33ed8a04709e4892aef7897054117f50,
title = "Enzyme replacement therapy in Fabry disease patients undergoing dialysis: Effects on quality of life and organ involvement",
abstract = "Background: Fabry disease is a lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. End-stage renal disease generally occurs around the fourth decade of age, and dialysis therapy is a life-saving procedure. For patients with Fabry disease undergoing dialysis, death usually occurs from cardiac or cerebrovascular complications. Recently, enzyme replacement therapy was introduced for treatment of the disease. Methods: We report results of several clinical outcomes after 2 years of treatment with α-Gal A in patients with Fabry disease undergoing dialysis. Nine dialysis patients underwent a complete clinical, cardiac, and cerebrovascular evaluation at baseline and after 24 months of treatment. Two patients reported a recurrent pain crisis, and 6 patients reported gastrointestinal symptoms. In all patients, enzyme replacement therapy was undertaken because of the presence of Fabry cardiomyopathy. A complete echocardiographic study was performed in 6 patients 12 and 24 months before and 12 and 24 months during enzyme replacement therapy. Results: Enzyme replacement therapy was well tolerated. Pain crises disappeared completely after approximately 6 months of treatment, and patients with gastrointestinal involvement reported improvement in symptoms after 6 to 8 months. At baseline, all patients had left ventricular concentric hypertrophy. Enzyme replacement therapy did not affect heart rate or mean arterial pressure. The mean slope of left ventricular mass index progression decreased from 0.98 ± 0.01 in the pretreatment period (24 months) to 0.46 ± 0.960 in the enzyme-replacement-therapy period (P = 0.06). Conclusion: Our observation indicates that in dialysis patients, enzyme replacement therapy is safe and effective, improving global quality of life and possibly ameliorating the progression of typical Fabry cardiomyopathy.",
keywords = "Dialysis, Enzyme replacement therapy, Fabry disease, Left ventricular hypertrophy",
author = "Antonio Pisani and Letizia Spinelli and Massimo Sabbatini and Andreucci, {Maria Vittoria} and Deni Procaccini and Cataldo Abbaterusso and Sonia Pasquali and Silvana Savoldi and Cristina Comotti and Bruno Cianciaruso",
year = "2005",
month = "7",
doi = "10.1053/j.ajkd.2005.03.016",
language = "English",
volume = "46",
pages = "120--127",
journal = "American Journal of Kidney Diseases",
issn = "0272-6386",
publisher = "W.B. Saunders Ltd",
number = "1",

}

TY - JOUR

T1 - Enzyme replacement therapy in Fabry disease patients undergoing dialysis

T2 - Effects on quality of life and organ involvement

AU - Pisani, Antonio

AU - Spinelli, Letizia

AU - Sabbatini, Massimo

AU - Andreucci, Maria Vittoria

AU - Procaccini, Deni

AU - Abbaterusso, Cataldo

AU - Pasquali, Sonia

AU - Savoldi, Silvana

AU - Comotti, Cristina

AU - Cianciaruso, Bruno

PY - 2005/7

Y1 - 2005/7

N2 - Background: Fabry disease is a lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. End-stage renal disease generally occurs around the fourth decade of age, and dialysis therapy is a life-saving procedure. For patients with Fabry disease undergoing dialysis, death usually occurs from cardiac or cerebrovascular complications. Recently, enzyme replacement therapy was introduced for treatment of the disease. Methods: We report results of several clinical outcomes after 2 years of treatment with α-Gal A in patients with Fabry disease undergoing dialysis. Nine dialysis patients underwent a complete clinical, cardiac, and cerebrovascular evaluation at baseline and after 24 months of treatment. Two patients reported a recurrent pain crisis, and 6 patients reported gastrointestinal symptoms. In all patients, enzyme replacement therapy was undertaken because of the presence of Fabry cardiomyopathy. A complete echocardiographic study was performed in 6 patients 12 and 24 months before and 12 and 24 months during enzyme replacement therapy. Results: Enzyme replacement therapy was well tolerated. Pain crises disappeared completely after approximately 6 months of treatment, and patients with gastrointestinal involvement reported improvement in symptoms after 6 to 8 months. At baseline, all patients had left ventricular concentric hypertrophy. Enzyme replacement therapy did not affect heart rate or mean arterial pressure. The mean slope of left ventricular mass index progression decreased from 0.98 ± 0.01 in the pretreatment period (24 months) to 0.46 ± 0.960 in the enzyme-replacement-therapy period (P = 0.06). Conclusion: Our observation indicates that in dialysis patients, enzyme replacement therapy is safe and effective, improving global quality of life and possibly ameliorating the progression of typical Fabry cardiomyopathy.

AB - Background: Fabry disease is a lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. End-stage renal disease generally occurs around the fourth decade of age, and dialysis therapy is a life-saving procedure. For patients with Fabry disease undergoing dialysis, death usually occurs from cardiac or cerebrovascular complications. Recently, enzyme replacement therapy was introduced for treatment of the disease. Methods: We report results of several clinical outcomes after 2 years of treatment with α-Gal A in patients with Fabry disease undergoing dialysis. Nine dialysis patients underwent a complete clinical, cardiac, and cerebrovascular evaluation at baseline and after 24 months of treatment. Two patients reported a recurrent pain crisis, and 6 patients reported gastrointestinal symptoms. In all patients, enzyme replacement therapy was undertaken because of the presence of Fabry cardiomyopathy. A complete echocardiographic study was performed in 6 patients 12 and 24 months before and 12 and 24 months during enzyme replacement therapy. Results: Enzyme replacement therapy was well tolerated. Pain crises disappeared completely after approximately 6 months of treatment, and patients with gastrointestinal involvement reported improvement in symptoms after 6 to 8 months. At baseline, all patients had left ventricular concentric hypertrophy. Enzyme replacement therapy did not affect heart rate or mean arterial pressure. The mean slope of left ventricular mass index progression decreased from 0.98 ± 0.01 in the pretreatment period (24 months) to 0.46 ± 0.960 in the enzyme-replacement-therapy period (P = 0.06). Conclusion: Our observation indicates that in dialysis patients, enzyme replacement therapy is safe and effective, improving global quality of life and possibly ameliorating the progression of typical Fabry cardiomyopathy.

KW - Dialysis

KW - Enzyme replacement therapy

KW - Fabry disease

KW - Left ventricular hypertrophy

UR - http://www.scopus.com/inward/record.url?scp=20544452974&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20544452974&partnerID=8YFLogxK

U2 - 10.1053/j.ajkd.2005.03.016

DO - 10.1053/j.ajkd.2005.03.016

M3 - Article

C2 - 15983965

AN - SCOPUS:20544452974

VL - 46

SP - 120

EP - 127

JO - American Journal of Kidney Diseases

JF - American Journal of Kidney Diseases

SN - 0272-6386

IS - 1

ER -