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] Associate Editor(s)-in-Chief: Sukaina Furniturewala, MBBS[3]
Overview
Fabry's disease is a rare inherited genetic condition that leads to the α-galactosidase A enzyme deficiency in individuals. The feature and pathophysiology of the disease have been revealed through the years by various scientists.
Historical Perspective
Discovery
- Fabry disease (or Anderson - Fabry disease) was first described separately by two physicians, Johannes Fabry in Germany and William Anderson in England, at the end of the 19th century.
- In 1898, Fabry named it "angiokeratoma corporis diffusum" following his 13-years-old patient's symptoms of red-purple skin lesion and subsequent albuminuria.
- In the same year, Anderson reported a 39-years-old patient with angiokeratomas, proteinuria, finger deformities, varicose veins, and lymphedema. [1]
- In 1909, the neurological symptoms of the disease were described by Steiner and Voerner.
- In 1925, the cardiac and ophthalmic complications and the possible hereditary feature of the disease were reported by Weicksel.
- In 1947, systemic vascular involvement was demonstrated by Pompen et al. during Fabry's patients' autopsy.[2]
- In 1953, the disease was recognized as a storage disease by Horbostel and Scriba.[3]
- In 1963, Sweeley and Klionsky identified the aggregation of certain types of glycolipids in various cells of patients with Fabry's disease.[4]
- In 1965, the nature of Fabry's disease was identified as the X-linked genetic disease by Opitz et al. for the first time.[5]
- In 1970, the specific α-galactosidase A enzyme deficiency was recognized as a cause of the disease.[6]
- In 2001, specific enzyme replacement therapy for Fabry's disease, namely Fabrazyme, was commercially introduced in Europe and in 2003 in the USA.[7]
References
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290707.
- ↑ POMPEN AW, RUITER M, WYERS HJ (1947). "Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports". Acta Med Scand. 128 (3): 234–55. doi:10.1111/j.0954-6820.1947.tb06596.x. PMID 18897399.
- ↑ HORNBOSTEL H, SCRIBA K (1953). "[Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease]". Klin Wochenschr. 31 (3–4): 68–9. doi:10.1007/BF01478472. PMID 13062573.
- ↑ SWEELEY CC, KLIONSKY B (1963). "FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID". J Biol Chem. 238: 3148–50. PMID 14081947.
- ↑ Opitz JM, Stiles FC, Wise D, Race RR, Sanger R, Von Gemmingen GR; et al. (1965). "The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus". Am J Hum Genet. 17 (4): 325–42. PMC 1932618. PMID 17948499.
- ↑ Kint JA (1970). "Fabry's disease: alpha-galactosidase deficiency". Science. 167 (3922): 1268–9. doi:10.1126/science.167.3922.1268. PMID 5411915.
- ↑ Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ; et al. (2006). "Fabry disease: guidelines for the evaluation and management of multi-organ system involvement". Genet Med. 8 (9): 539–48. doi:10.1097/01.gim.0000237866.70357.c6. PMID 16980809.