Fabry’s Disease is an X-linked disease caused by a mutation in the alpha-galactosidase A gene, resulting in the accumulation of glycosphingolipids within lysosomes. In the kidney under electron microscopy, this is manifested as the presence of multiple round “onion-skin” inclusion bodies (see EM on the left).
It presents clinically with renal failure (preceded by proteinuria, lipiduria, and variable hematuria), cutaneous angiokeratomas (see below), painful paresthesias of the hand (acroparesthesias), and early CAD.
As it is X-linked, it occurs mostly in boys; however, females may have a mild form of the disease.
In recent years, the biotech company Genzyme has developed an injectable form of the missing enzyme, marketed under the trade name “Fabrazyme.” Although successful, it comes at a cost of approximately $170,000 a year for a single patient, a significant barrier to many patients without insurance.