Fabry disease revisited: Management and treatment recommendations for adult patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10376678" target="_blank" >RIV/00216208:11110/18:10376678 - isvavai.cz</a>

Result on the web

<a href="https://doi.org/10.1016/j.ymgme.2018.02.014" target="_blank" >https://doi.org/10.1016/j.ymgme.2018.02.014</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ymgme.2018.02.014" target="_blank" >10.1016/j.ymgme.2018.02.014</a>

Result language

angličtina

Original language name

Fabry disease revisited: Management and treatment recommendations for adult patients

Original language description

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GM gene leading to deficient a-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the &quot;classic&quot; 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.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Molecular Genetics and Metabolism

ISSN

1096-7192

e-ISSN

—

Volume of the periodical

123

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

12

Pages from-to

416-427

UT code for WoS article

000430037100002

EID of the result in the Scopus database

2-s2.0-85043395605