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=== Discovery ===
=== Discovery ===


* Anderson - Fabry disease was first described at the end of the 19th century by two dermatologists, Johannes Fabry in Germany and William Anderson in England.
*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 1989 the origin of one of its many clinical names, "angiokeratoma corporis diffusum" was first identified by fabry as he described a clinical case of a13-year-old patient affected by nodular purpura and subsequent albuminuria. In that same year Anderson described the clinical case of a systemic disorder affecting a patient aged 39 with angiokeratomas, proteinuria, finger deformities, varicose veins and lymphedema.
**In the '''same year''', Anderson reported a 39-years-old patient with [[angiokeratomas]], [[proteinuria]], finger [[deformities]], [[varicose veins]], and [[lymphedema]].<ref name="pmid21290707">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume=  | issue=  | pages=  | pmid=21290707 | doi= | pmc= | url= }} </ref>
* The first ten years of the 20th century identified other similar cases.
*In '''1909''', the '''neurological symptoms''' of the disease were described by Steiner and Voerner.
* In the year 1912, Madden illustrated the clinical case of a young Egyptian patient with diffuse angiokeratomas followed in 1915 by Fabry who reproposed this condition as "Angiokeratoma corporis naeviforme".
*In '''1925''', the '''cardiac''' and '''ophthalmic''' complications and the possible hereditary feature of the disease were reported by Weicksel.
* In 1947 Pompen speculated the origin of Anderson - Fabry disease as rather “familial” after the clinical case of two brothers dying of a similar disease was identified.
*In '''1947''', the  systemic '''vascular''' involvement was demonstrated by Pompen etal, during Fabry's patients' autopsy.<ref name="pmid18897399">{{cite journal| author=POMPEN AW, RUITER M, WYERS HJ| title=Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. | journal=Acta Med Scand | year= 1947 | volume= 128 | issue= 3 | pages= 234-55 | pmid=18897399 | doi=10.1111/j.0954-6820.1947.tb06596.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18897399  }} </ref>
* Anderson - Fabry Disease is a multi-systemic disorder caused by the build-up inside lysosomes of globotriaosylceramide or Gb3, the accumulated lipid material discovered in 1963 by Sweeley e Klionsky.In
*In '''1953''', the disease introduced as a '''[[storage disease]]''' by Horbostel and Scriba.<ref name="pmid13062573">{{cite journal| author=HORNBOSTEL H, SCRIBA K| title=[Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease]. | journal=Klin Wochenschr | year= 1953 | volume= 31 | issue= 3-4 | pages= 68-9 | pmid=13062573 | doi=10.1007/BF01478472 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13062573  }} </ref>
* In 1960 it was established that [[Fabry's disease]] is an [[X linked inheritance|X- linked disease]] due to deficiency of [[alpha-galactosidase]].
*In '''1963''', Sweeley and Klionsky identified the aggregation of certain types of '''glycolipids''' in various cells of patients with Fabry's diseae.<ref name="pmid14081947">{{cite journal| author=SWEELEY CC, KLIONSKY B| title=FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. | journal=J Biol Chem | year= 1963 | volume= 238 | issue=  | pages= 3148-50 | pmid=14081947 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14081947  }} </ref>
* In 1964 the clinical features of the main two phenotypes of the disease, the classical form and the atypical variants were described.
* In '''1965''', the nature of Fabry's disease was identified as the '''X-linked''' genetic disease by Opitz et.al for the first time.<ref name="pmid17948499">{{cite journal| author=Opitz JM, Stiles FC, Wise D, Race RR, Sanger R, Von Gemmingen GR | display-authors=etal| title=The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. | journal=Am J Hum Genet | year= 1965 | volume= 17 | issue= 4 | pages= 325-42 | pmid=17948499 | doi= | pmc=1932618 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17948499  }} </ref> 
 
* In '''1970''', it was revealed the specific '''[[α-galactosidase A]] enzyme deficiency''' as a cause of the disease.<ref name="pmid5411915">{{cite journal| author=Kint JA| title=Fabry's disease: alpha-galactosidase deficiency. | journal=Science | year= 1970 | volume= 167 | issue= 3922 | pages= 1268-9 | pmid=5411915 | doi=10.1126/science.167.3922.1268 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5411915  }} </ref>
* In the ‘70s the enzyme involved in the metabolism of Gb3 was found to be α-galactosidase A, whose functional deficit causes the disease. The enzyme is encoded by the GLA gene - described in 1974 - located in the long arm of the X chromosome (q21-22).
*In '''2001''', specific '''enzyme replacement therapy''' for [[Fabry's disease]] namely [[Fabrazyme]] was commercially introduced in Europe and in 2003 in the USA.<ref name="pmid16980809">{{cite journal| author=Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ | display-authors=etal| title=Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. | journal=Genet Med | year= 2006 | volume= 8 | issue= 9 | pages= 539-48 | pmid=16980809 | doi=10.1097/01.gim.0000237866.70357.c6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16980809  }} </ref>
* In the mid-1990s the many efforts to replace the lacking enzyme were successful and further led to the enzymatic replacement therapy for Anderson - Fabry disease.[1]
*In 2003 specific treatment for [[Fabry's disease]] namely [[Fabrazyme]] was introduced.


==References==
==References==
{{Reflist|2}}[1] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907 HISTORY OF ANDERSON - FABRY DISEASE, ''Nephrology Dialysis Transplantation'', Volume 30, Issue suppl_3, 1 May 2015, Page iii379, <nowiki>https://doi.org/10.1093/ndt/gfv186.08</nowiki>
{{Reflist|2}}[1] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907 HISTORY OF ANDERSON - FABRY DISEASE, ''Nephrology Dialysis Transplantation'', Volume 30, Issue suppl_3, 1 May 2015, Page iii379, <nowiki>https://doi.org/10.1093/ndt/gfv186.08</nowiki>
[[Category:Pediatrics]]
[[Category:Pediatrics]]

Revision as of 15:31, 11 March 2022

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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]


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 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, the systemic vascular involvement was demonstrated by Pompen etal, during Fabry's patients' autopsy.[2]
  • In 1953, the disease introduced 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 diseae.[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, it was revealed the specific α-galactosidase A enzyme deficiency 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

  1. ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290707.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ Kint JA (1970). "Fabry's disease: alpha-galactosidase deficiency". Science. 167 (3922): 1268–9. doi:10.1126/science.167.3922.1268. PMID 5411915.
  7. ↑ 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.

[1] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907 HISTORY OF ANDERSON - FABRY DISEASE, Nephrology Dialysis Transplantation, Volume 30, Issue suppl_3, 1 May 2015, Page iii379, https://doi.org/10.1093/ndt/gfv186.08

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