Fabrys Disease

Information and facts about Eponymous diseases.

Fabry's disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. The mutation causes a deficiency in alpha galactosidase A which is important in lipid catabolism. This leads to the accumulation of ceramide trihexoside in the cardiovascular and renal systems. The gene that codes for it is on the X chromosome and for this reason it was thought to primarily affect males. New studies have revealed that many females(originally thought only to be carriers) also have symptoms and problems linked with this disease.

Treatment of Fabry's disease until recently was just symptomatic. This is changing with the drug Agalsidase beta (Fabrazyme®). Problematic is that the cost of the drug (approximately $170,000 US a year/patient) remains a barrier to many patients in some countries.

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