What is Fabry Disease?
How to diagnose?
What is the treatment?
Type 1 - Classic Phenotype
Patients begin to notice symptoms during childhood or adolescence. Males are the most affected by the disease because they have limited or no α-Gal A enzymatic activity. As age increases, glycolipids start accumulating in different parts of the body, especially in the microvascular system. It results in kidney problems, heart disease, and strokes, shortening lifespan.
Type 2 - Late-Onset Phenotype
More common symptoms include: Heat flashes, decreased ability to sweat, dark spots on the skin, gastrointestinal problems, ringing in the ears, and hearing loss.
3,000 to 7,000Estimated Cases Worldwide
Spots on the Skin
Ringing in Ears
*See details for each type
Enzyme Replacement Therapy (ERT)
Substrate Reduction Therapy (SRT)