Fabry disease

Overview

Who is Fabry disease named after?

Fabry disease is named after the first doctor, Dr. Johannes Fabry, who described the signs and symptoms of the disease in 1898. Fabry disease is also sometimes referred to as Anderson-Fabry disease, acknowledging another doctor, Dr. William Anderson, who also described its symptoms in 1898. Both Dr. Fabry and Dr. Anderson were dermatologists, or specialized doctors that treat skin problems. They both had patients with skin lesions common to Fabry disease called angiokeratomas. "Angio" refers to blood vessels and "keratoma" refers to hardened or callous skin. Angiokeratomas look like a painless, red rash and usually appear around the "bathing truck" area of the body or around the elbows and knees.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fabry-disease/overview/2162 • DATE UPDATED: 2019-12-12

References

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/.

MD, Book: Mehta A, Beck M, Sunder-Plassmann G, editors.Oxford: Oxford PharmaGenesis; 2006.

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