title: Activation of platelet function in Fabry's disease.
abstract: Increased platelet aggregation and high plasma concentration of beta-thromboglobulin were observed in hemizygotes and heterozygotes of Fabry's disease. Carbamazepine and phenytoin administered for the treatment of pains in these patients showed no significant effect on platelet aggregation. No activation of platelets was observed after the addition of ceramide trihexoside, the storage lipid of this disease. Mitral valve prolapse was found in eight of 12 patients. Although the pathogenesis of platelet activation and mitral valve prolapse are not known, the platelet activation could be an early indicator and an accelerating factor of thromboembolic vascular change in this disease.
mesh_terms: D000293:Adolescent; D000328:Adult; D002220:Carbamazepine / Q000627:therapeutic use; D002648:Child; D000795:Fabry Disease / Q000097:blood*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D010672:Phenytoin / Q000627:therapeutic use; D010974:Platelet Aggregation; D010976:Platelet Count; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D002220:Carbamazepine; D010672:Phenytoin; D000519:alpha-Galactosidase