Fabry's disease historical perspective
|
Fabry's disease Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Fabry's disease historical perspective On the Web |
|
American Roentgen Ray Society Images of Fabry's disease historical perspective |
|
Risk calculators and risk factors for Fabry's disease historical perspective |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Neepa Shah, M.B.B.S.[2]
Historical Perspective
Fabry's disease was named after Johannes Fabry and William Anderson in 1981. They described the initial findings of angiokeratoma, the skin manifestation of Fabry's disease.[1]
Discovery
- In 1878 Cottle first described in the St George Hospital Reports about angiokeratoma- dermatological manifestations of Fabry's disease.[2]
- 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".[2]
- In 1986 and 1989 Colcott Fox published more cases with angiokeratoma.[2]
- In 1965 Ken Hashimoto published electron microscopic findings.[3]
- In 2003 specific treatment for Fabry's disease Fabrazyme was introduced.[4]
References
- ↑ Schiffmann R (2015). "Fabry disease". Handb Clin Neurol. 132: 231–48. doi:10.1016/B978-0-444-62702-5.00017-2. PMID 26564084.
- ↑ 2.0 2.1 2.2 Al-Zainal MH, Anvery S, Al-Jewair T (2020). "Clear Aligner Therapy May Not Prevent But May Decrease the Incidence of External Root Resorption Compared to Full Fixed Appliances". J Evid Based Dent Pract. 20 (2): 101438. doi:10.1016/j.jebdp.2020.101438. PMID 32473807 Check
|pmid=value (help). - ↑ Mehta A, Beck M, Sunder-Plassmann G, Mehta A, Beck M, Linhart A, Sunder-Plassmann G, Widmer U. PMID 21290707. Missing or empty
|title=(help) - ↑ Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U; et al. (2018). "European expert consensus statement on therapeutic goals in Fabry disease". Mol Genet Metab. 124 (3): 189–203. doi:10.1016/j.ymgme.2018.06.004. PMID 30017653.