What is Fabry Disease?
How to diagnose?
What is the treatment?
Patients begin to notice symptoms during childhood or adolescence. Males are more severely affected by the disease because they have limited or no α-Gal A enzymatic activity. With advancing age, glycolipids continue accumulating in different parts of the body, especially in the microvascular system of the kidneys, heart, brain, and the nervous system, resulting in severe pain, progressive kidney disease, cardiomyopathy, and strokes. Unless treated, the lifespan is shortened in both males and females.
Other common symptoms include decreased ability to sweat, red spots on the skin, gastrointestinal problems, ringing in the ears, and hearing loss.
8,000Estimated number of patients with Fabry disease in US
Pain in the hands and feet (acroparesthesia)
Red rash, specially involving the flanks, around the umbilicus and between the upper legs
Ringing in ears
*See details for each type
Enzyme Replacement Therapy (ERT)
Pharmacologic Chaperone Therapy (PCT) (for patients with amenable GLA mutations)
Substrate Reduction Therapy (SRT)
(Clinical trials for male and female patients with FD impacted with pain or cardiac involvement)