Fabry's disease historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Neepa Shah, M.B.B.S.[2]
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Historical Perspective
It was named after Johannes Fabry and William Anderson in 1981.
Discovery
- In 1878 Cottle first described in the St George Hospital Reports about angiokeratoma- dermatological manifestations of Fabry's disease.
- In 1952 it was recognized that Fabry's disease is due to abnormal storage of glycolipids in blood vessels and other organs.
- In 1960 it was established that Fabry's disease is an X- linked disease due to deficiency of alpha-galactosidase.
- In 1985 Crocker mentioned about angiokeratoma in "Diseases of the Skin"
- In 1986 and 1989 Colcott Fox published more cases with angiokeratomas.
- In 1965 Ken Hashimoto published electron microscopic findings. [33][34]
- In 2003 Specific treatment for Fabry's disease Fabrazyme was introduced.{19}{22}