Fabry's disease historical perspective: Difference between revisions

Jump to navigation Jump to search
No edit summary
Line 1: Line 1:
{{Fabry's disease}}
{{Fabry's disease}}


{{CMG}} {{Neepa Shah}}
{{CMG}} {{Neepa Shah}} {{AE}} {{SUF}}


<br />
<br />

Revision as of 21:35, 16 August 2020

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

  • 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.
  • 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.
  • The first ten years of the 20th century identified other similar cases.
  • 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 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.
  • 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 1960 it was established that Fabry's disease is an X- linked disease due to deficiency of alpha-galactosidase.
  • In 1964 the clinical features of the main two phenotypes of the disease, the classical form and the atypical variants were described.
  • 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 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

[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