Activation of platelet function in Fabry's disease.

Area of Science:

• Biochemistry
• Hematology
• Cardiology

Background:

• Fabry's disease is a rare genetic disorder.
• It involves the accumulation of globotriaosylceramide (ceramide trihexoside) in various tissues.
• Platelet activation and mitral valve prolapse are potential complications.

Purpose of the Study:

• To investigate platelet aggregation and beta-thromboglobulin levels in Fabry's disease patients.
• To assess the effect of carbamazepine and phenytoin on platelet aggregation.
• To explore the relationship between ceramide trihexoside, platelet activation, and mitral valve prolapse.

Main Methods:

• Blood samples were collected from hemizygotes and heterozygotes of Fabry's disease.
• Platelet aggregation and plasma beta-thromboglobulin levels were measured.
• Platelets were incubated with ceramide trihexoside in vitro.
• Echocardiography was performed to assess for mitral valve prolapse.

Main Results:

• Increased platelet aggregation and elevated beta-thromboglobulin were observed in Fabry's disease patients.
• Carbamazepine and phenytoin did not significantly alter platelet aggregation.
• No platelet activation occurred upon addition of ceramide trihexoside.
• Mitral valve prolapse was present in 8 of 12 patients.

Conclusions:

• Platelet activation may be an early indicator of thromboembolic vascular changes in Fabry's disease.
• The storage lipid ceramide trihexoside does not directly activate platelets.
• Further research is needed to understand the pathogenesis of platelet activation and mitral valve prolapse in this condition.