Should I start treatment before I have Fabry symptoms?
In Fabry disease, globotriaosylceramide or GL-3 and related glycolipids start building up and are stored in the body's cells before birth. Over time, serious organ damage can occur silently before an individual actually feels ill. For example, kidney biopsy studies have shown that there can be kidney damage before protein or other kidney function markers in the urine even appear.
In order to prevent Fabry disease from causing irreversible damage, medical evaluation and treatment needs to occur as soon as possible. Early intervention with enzyme replacement therapy (ERT) or chaperone therapy offers the best protection against the complications and health problems related to Fabry disease. In adults, this means beginning ERT or oral therapy as soon as Fabry disease is diagnosed. In children with Fabry disease, the decision to begin therapy is based on the symptoms that they have and discussions of the risks and benefits of ERT with your Fabry disease specialist. There are also certain age restrictions for many of the available treatments. For more information about Fabry disease treatment and ERT, please talk to your Fabry doctor or refer to the National Fabry Disease online resource.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fabry-disease/treatment/2092 • DATE UPDATED: 2019-12-12
Emory University Fact Sheet, updated 7/9/2015
Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
National Fabry Disease Foundation - Fabry Disease Treatment. (n.d.). Retrieved November 22, 2019, from http://www.fabrydisease.org/index.php/about-fabry-disease/fabry-disease-treatment.
Discover Fabry. (n.d.). Retrieved November 22, 2019, from https://www.discoverfabry.com/.
Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. https://www.sciencedirect.com/science/article/pii/S1096719217307680?via%3Dihub Retrieved 12DEC19.