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      Fabry disease revisited: Management and treatment recommendations for adult patients.

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          Abstract

          Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit. However, much of the current literature reports outcomes after late initiation of ERT, once substantial organ damage has already occurred. Updated monitoring and treatment guidelines for pediatric patients with Fabry disease have recently been published. Expert physician panels were convened to develop updated, specific guidelines for adult patients. Management of adult patients depends on 1) a personalized approach to care, reflecting the natural history of the specific disease phenotype; 2) comprehensive evaluation of disease involvement prior to ERT initiation; 3) early ERT initiation; 4) thorough routine monitoring for evidence of organ involvement in non-classic asymptomatic patients and response to therapy in treated patients; 5) use of adjuvant treatments for specific disease manifestations; and 6) management by an experienced multidisciplinary team.

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          Author and article information

          Journal
          Mol. Genet. Metab.
          Molecular genetics and metabolism
          Elsevier BV
          1096-7206
          1096-7192
          Apr 2018
          : 123
          : 4
          Affiliations
          [1 ] Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, School of Medicine, UAM, IRSIN and REDINREN, Madrid, Spain. Electronic address: aortiz@fjd.es.
          [2 ] French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.
          [3 ] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
          [4 ] Department of Neurology, Fundacion Para el Estudio de Enfermedades Neurometabolicas (FESEN), Buenos Aires, Argentina.
          [5 ] Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, MN, USA.
          [6 ] Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.
          [7 ] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
          [8 ] Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, OH, USA.
          [9 ] Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
          [10 ] 2nd Department of Internal - Cardiovascular Medicine, First Medical Faculty, Charles University, Prague, Czech Republic.
          [11 ] School of Pharmacy, University of Sunderland, Sunderland, UK.
          [12 ] Department of Medicine, Division of Nephrology, University of Alabama at Birmingham, Birmingham, AL, USA.
          [13 ] Department of Internal Medicine, Katharinen-Hospital Unna, Unna, Germany.
          Article
          S1096-7192(17)30768-0
          10.1016/j.ymgme.2018.02.014
          29530533

          Diagnosis, Treatment, Fabry disease, Management, Mutation

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