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Fabry disease revisited: Management and treatment recommendations for adult patients

Ortiz, Alberto
Author Ortiz, Alberto Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, School of Medicine, UAM, IRSIN and REDINREN, Madrid, Spain. Electronic address: aortiz@fjd.es
Germain, Dominique P
Author Germain, Dominique P French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France
Desnick, Robert J
Author Desnick, Robert J Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Politei, Juan
Author Politei, Juan Department of Neurology, Fundacion Para el Estudio de Enfermedades Neurometabolicas (FESEN), Buenos Aires, Argentina
Mauer, Michael
Author Mauer, Michael Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, MN, USA
Burlina, Alessandro
Author Burlina, Alessandro Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy
Eng, Christine
Author Eng, Christine Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Hopkin, Robert J
Author Hopkin, Robert J Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, OH, USA
Laney, Dawn
Author Laney, Dawn Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
Linhart, Aleš
Author Linhart, Aleš 2nd Department of Internal - Cardiovascular Medicine, First Medical Faculty, Charles University, Prague, Czech Republic
Waldek, Stephen
Author Waldek, Stephen School of Pharmacy, University of Sunderland, Sunderland, UK
Wallace, Eric
Author Wallace, Eric Department of Medicine, Division of Nephrology, University of Alabama at Birmingham, Birmingham, AL, USA
Weidemann, Frank
Author Weidemann, Frank Department of Internal Medicine, Katharinen-Hospital Unna, Unna, Germany
Wilcox, William R
Author Wilcox, William R Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA

Molecular genetics and metabolism. 2018 Apr ; 123 (4) : 416-427. [epub] 20180228

Mol Genet Metab
ISSN 1096-7206 | 1096-7192
Source

Language English Country United States Media print-electronic

Document type Journal Article, Research Support, Non-U.S. Gov't, Review

Persistent link https://www.medvik.cz/link/pmid29530533

PubMed 29530533
DOI 10.1016/j.ymgme.2018.02.014
PII: S1096-7192(17)30768-0
Knihovny.cz E-resources

Keywords
Diagnosis, Fabry disease, Management, Mutation, Treatment,
MeSH
alpha-Galactosidase administration & dosage MeSH
Adult MeSH
Enzyme Replacement Therapy * MeSH
Fabry Disease enzymology therapy MeSH
Humans MeSH
Disease Management MeSH
Check Tag
Adult MeSH
Humans MeSH
Publication type
Journal Article MeSH
Research Support, Non-U.S. Gov't MeSH
Review MeSH
Names of Substances
alpha-Galactosidase MeSH

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.

2nd Department of Internal Cardiovascular Medicine 1st Medical Faculty Charles University Prague Czech Republic

Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA

Department of Internal Medicine Katharinen Hospital Unna Unna Germany

Department of Medicine Division of Nephrology University of Alabama at Birmingham Birmingham AL USA

Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

Department of Neurology Fundacion Para el Estudio de Enfermedades Neurometabolicas Buenos Aires Argentina

Departments of Pediatrics and Medicine University of Minnesota Minneapolis MN USA

Division of Human Genetics Cincinnati Children's Hospital Medical Center and Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA

Division of Medical Genetics Department of Human Genetics Emory University School of Medicine Atlanta GA USA

French Referral Center for Fabry disease Division of Medical Genetics and INSERM U1179 University of Versailles Paris Saclay University Montigny France

Neurological Unit St Bassiano Hospital Bassano del Grappa Italy

School of Pharmacy University of Sunderland Sunderland UK