Fabry disease


Will my daughter with Fabry disease have different symptoms than my son with Fabry disease?

In most cases of classic Fabry disease, boys and girls will present with the same symptoms in childhood. However, because of the way that Fabry disease is passed through families, the severity of symptoms and long term health problems may vary more in girls than in boys. For this reason, it is important that girls have full medical evaluations annually to monitor for symptoms.

In classic Fabry disease, the early signs for both boys and girls usually begin in childhood and can include overheating or sensitivity to hot weather, tingling or pain in the hands and feet, a reddish purple skin rash, protein in the urine, and stomach issues, such as frequent bloating or diarrhea. The most common early symptoms of Fabry disease in kids are a tingling pain in the hands and feet when overheated or sick, and frequent bloating and diarrhea.

Children with non-classic or late onset Fabry disease may also present with some or all of these symptoms and their health should be monitored in either type. Based on United States expert treatment recommendations, patients of either gender that present with any symptoms due to Fabry disease should be considered for Fabry treatment such as enzyme replacement therapy. Treatment guidelines in other countries provide may provide insight on when to initiate and cease therapy. 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.

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in Infancy and Early Childhood: A systematic literature review. Genetics in Medicine. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18.

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.

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

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