Fabry disease


What is the difference between classic and non-classic Fabry?

Fabry disease can be associated with a wide range of severity and it is commonly divided into two types, "classic" and "non-classic or late onset." Both men and women can have classic and non-classic Fabry disease. Because of the way Fabry disease is passed through families, symptoms often vary more in women than in men. The type of Fabry disease often depends on the age symptoms start, the organs affected by the disease, how fast the disease progresses, and how severe symptoms become.

Classic Fabry disease symptoms in males and females typically start in the first 2-10 years of life with onset of burning pain in the hands and feet, heat intolerance and gastrointestinal issues, such as diarrhea, pain and constipation. Without treatment the classic form of the disease progresses into kidney, heart, and other health problems between the ages of 20 to 45.

In non-classic Fabry disease, symptoms may start after childhood and may more severely affect one organ like the heart or kidney. It is important to note that in non-classic Fabry disease, heart disease and other symptoms still occur earlier than average men and women, so it is important to monitor the heart, kidneys, and brain from the time of diagnosis with Fabry disease. In both classic and non-classic Fabry disease, symptoms always worsen over time.

Rarely, Classic Fabry disease will be referred to as "Type I" and Non-Classic Fabry disease will be referred to as 'Type II" but that is not the preferred terminology.

To learn more about classic and non-classic Fabry disease, please talk to your doctor or speak with a Fabry center team member. Find a Fabry center near you at the National Fabry Disease online resource.

http://genetics.emory.edu/resources/fact-sheets.htmlEmory University Fabry disease FAQs, updated 6/12/2015

Biegstraaten M, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015 Mar 27;10:36.

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

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

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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