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 journalArticlepeer-review

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

Keywords

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

ASJC Scopus subject areas

  • Nephrology

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