Illuminating Fabry disease - 2024 update

April is Fabry disease awareness month, which we are taking as an opportunity to explore advances in the pharmacological treatment of this rare disease.

What is Fabry disease?

Fabry disease, an X-linked lysosomal storage disorder, results from reduced activity of alpha-galactosidase A (Gal A), leading to lysosomal accumulation of glycosphingolipids like globotriaosylceramide GL-3. Skin lesions, particularly angiokeratoma corporis diffusum, are common and indicate renal involvement. Abnormalities can be found in almost any part of the body, with higher predisposition in the skin, eyes, kidneys, heart, brain, and peripheral nervous system.