Fabry disease

Overview

How many people in the US have Fabry?

Around 5,000 people in the U.S. have been diagnosed with Fabry disease. That number is a mixture of men and women living with Fabry disease, as well as a combination of people with classic and non-classic Fabry disease. However, doctors fully believe that many people living with Fabry disease have not been diagnosed due to the nonspecific health problems associated with the condition (e.g. severe tiredness, burning pain in the hands and feet). Newborn screening in Missouri and Illinois have increased the numbers of people diagnosed with Fabry disease, but it has also made things a little more complicated. Some newborns and their family members have new changes or variants of unknown significance in the GLA gene and it is unclear if these changes contribute to the health issues associated with Fabry disease.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fabry-disease/overview/58927 • DATE UPDATED: 2019-12-12

References

National Fabry Disease Foundation "How many people have Fabry disease" http://www.fabrydisease.org/index.php/about-fabry-disease/how-many-people-have-fabry-disease

DA. Laney. "The demographics and prevalence of the most frequently reported α-galactosidase A mutations in Fabry patients: data from the Fabry Registry" Molecular Genetics and Metabolism 111 (2), S65-S66. http://www.mgmjournal.com/article/S1096-7192(13)00579-9/fulltext

Fabry Registry Annual Report 2013 http://www.fabry.org/fsig.nsf/PDFs/PDFsR/$File/2013_Annual_Report.pdf

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