The effect of phlebotomy as a treatment of Fabry disease.

Senescent erythrocytes are considered a major source of the ceramide trihexoside which accumulates in Fabry disease patients. We have evaluated weekly phlebotomy as a method to reduce the catabolic load imposed by the senescence of erythrocytes and thereby ceramide trihexoside in one Fabry patient; no change was observed in either plasma or urinary level of ceramide trihexoside. The implications of this observation are discussed with regard to glycolipid metabolism in man.