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What Is Fabry Disease?      

Fabry Disease is an inherited genetic Lysosomal disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry Disease include; episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

Reference: https://ghr.nlm.nih.gov/condition/fabry-disease

Fabry Disease Alternative titles / symbols                                     

  • Angiokeratoma Corporis Diffusum
  • Anderson-Fabry Disease
  • Hereditary Dystopic Lipidosis
  • Alpha-galactosidase A Definiciency
  • GLA Deficiency 
  • Ceremide Trihexosidase Deficiency

http://www.omim.org/entry/301500#33

The Incidence of Fabry Disease

The incidence of Fabry disease has been estimated at 1 in 55,000 male births. However, several literature reports suggest that Fabry Disease may be significantly under diagnosed and the prevalence of the disease may in fact be much higher, particularly of milder variants of the disease (Clarke 2007).  Based on a Newborn Screen Study, Spada et al. (2006) estimated that the incidence of Fabry disease may be 1 in 3,100 to 4,600 individuals.

Why is the disease called 'Fabry Disease'?

Fabry disease was first identified in 1898 by two dermatologists working independently, Dr William Anderson in England and Dr Johannes Fabry in Germany. They separately published papers in which they described patients with skin lesions, known as angiokeratomas, which are now recognised as a common sign of Fabry disease. The disease has a number of names, including angiokeratoma corporis diffusum, alpha-galactosidase A deficiency, and was for many years known as Anderson-Fabry disease, but is now usually referred to simply as Fabry disease. 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

http://www.omim.org/entry/301500