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.
Here is a link to more information about the genetics of Fabry Disease that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Fabry_Disease/140. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA