Fabry disease


Even though I've been diagnosed with Fabry disease, I don't feel sick, do I need to be evaluated?

Fabry disease is a progressive, life-threatening condition that can cause serious damage to the heart, kidneys and central nervous system if left untreated. Early signs symptoms, such as pain and tingling in the extremities, heat intolerance, stomach issues and skin lesions, can vary from person to person. Regardless of whether or not an individual has very severe symptoms or no symptoms at all, globotriaosylceramide or GL-3 is stored in the body's cells over time and 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 stop or slow 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 opportunity to stabilize many of the complications and health problems related to Fabry disease. In adults, this means beginning Fabry specific treatment as soon as Fabry disease is diagnosed. In children with Fabry disease, the decision to begin therapy is based on the symptoms they have and discussions of the risks and benefits of ERT with a Fabry disease specialist. In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource.

Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.

National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.

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

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.

Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR; Fabry Pediatric Expert Panel. The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab. 2016 Feb;117(2):104-13. http://www.ncbi.nlm.nih.gov/pubmed/26546059

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