about FABRY

Just to clarify the last person is Adriana, and the second to last is Vicki? Should they be in the same narrative or separate?

Anderson-Fabry Disease


Fabry disease is a lysosomal storage disorder of lipid (fat) metabolism resulting from the deficient activity of the enzyme, alpha-galactosidase A. Cells become unable to breakdown glycolipids, which build up and damage the heart and kidneys. There are two major types of the disease: type-1 “classic”, and type-2 “later-onset.” Both diseases lead to renal and cardiac complications that can result in death. Other symptoms include acroparesthesia (pain in hands and feet during exercise or stress), angiokeratomas (red and blue rash-like discolorations on the skin), anhidrosis or hypohidrosis (decreased or absent sweating), gastrointestinal complications, and corneal clouding. Type 1 is thought to occur in approximately 1 in every 40,000 male births, while type-2 is more frequent. It affects both sexes although predominately men.