Fabry disease


When should ERT be started for Fabry disease?

Experts agree ERT should be started as early as possible. Early intervention with enzyme replacement therapy (ERT) offers the best protection against the complications and health problems related to Fabry disease. In adults, this means beginning ERT 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 their Fabry disease specialist.

In the United States, many experts recommend treating males and females with classic and non-classic Fabry disease as soon as they have symptoms such as tingling or pain in their hand or feet or issues with diarrhea and constipation. In people without symptoms, the doctor will look at the family history of Fabry symptoms and the gene change causing Fabry disease and work with them to make a good plan for watching for Fabry disease symptoms and starting treatment. For more information about Fabry disease treatment and ERT, please talk to your Fabry doctor or refer to the National Fabry Disease online resource.

Enzyme Replacement Therapy for Fabry Disease at Emory Lysosomal Storage Disease Center. (2015, July 9). Retrieved from https://genetics.emory.edu/documents/resources/ERT-Fabry.pdf.

Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.

Sanofi Genzyme - Fabrazyme® (agalsidase beta). (2019, May 1). Retrieved from https://www.fabrazyme.com/healthcare/About-Fabrazyme/Clinical-Data.aspx.

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.

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