title: Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.
abstract: Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure. In the classical phenotype, cardiac failure, renal failure and stroke result in a reduced median life expectancy. The current causal treatment for Fabry disease is the enzyme replacement therapy (ERT): two different products, Replagal (agalsidase alfa) and Fabrazyme (agalsidase beta), have been commercially available in Europe for almost 10 years and they are both indicated for long-term treatment. In fact, clinical trials, observational studies and registry data have provided many evidences for safety and efficacy of ERT in improving symptoms of pain, gastrointestinal disturbances, hypohidrosis, left ventricular mass index, glomerular filtration rate and quality of life. Few data are available on comparison of the two treatments and on the clinical course of the disease. This article reviews the published evidence for clinical efficacy of the two available enzyme preparations.
authors.affiliation: Department of Nephrology, University Federico II, Napoli, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
authors.forename: Bianca
authors.initials: B
authors.lastname: Visciano
authors.forename: Graciana Diez
authors.initials: GD
authors.lastname: Roux
authors.forename: Massimo
authors.initials: M
authors.lastname: Sabbatini
authors.forename: Caterina
authors.initials: C
authors.lastname: Porto
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Massimo
authors.initials: M
authors.lastname: Imbriaco
mesh_terms: D000328:Adult; D002986:Clinical Trials as Topic; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology; D005260:Female; D005696:Galactosidases / Q000172:deficiency; D006333:Heart Failure / Q000209:etiology / Q000378:metabolism / Q000473:pathology / Q000517:prevention & control*; D006801:Humans; D007527:Isoenzymes / Q000494:pharmacology / Q000627:therapeutic use*; D008297:Male; D011994:Recombinant Proteins; D051437:Renal Insufficiency / Q000209:etiology / Q000378:metabolism / Q000473:pathology / Q000517:prevention & control*; D020521:Stroke / Q000209:etiology / Q000378:metabolism / Q000473:pathology / Q000517:prevention & control*; D014281:Trihexosylceramides / Q000378:metabolism; D000519:alpha-Galactosidase / Q000494:pharmacology / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D011994:Recombinant Proteins; D014281:Trihexosylceramides; C000627036:agalsidase alfa; C018549:globotriaosylceramide; D005696:Galactosidases; D000519:alpha-Galactosidase; C459420:agalsidase beta