Fabry's disease historical perspective: Difference between revisions

Jump to navigation Jump to search
← Older editNewer edit →
VisualWikitext
No edit summary
Ghsanadgol (talk | contribs)
226 edits
Line 8: Line 8:
=== 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

Fabry's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fabry's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fabry's disease historical perspective On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fabry's disease historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fabry's disease historical perspective

CDC on Fabry's disease historical perspective

Fabry's disease historical perspective in the news

Blogs on Fabry's disease historical perspective

Directions to Hospitals Treating Fabry's disease

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] 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

Retrieved from "https://www.wikidoc.org/index.php?title=Fabry%27s_disease_historical_perspective&oldid=1720888"