Perioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery
Abstract
Bernard Soulier syndrome is a rare hereditary macrothrombocytopenia, with an incidence of <1 per million.
Patients may have variable platelet counts, ranging from <10 × 109/L to normal, as well as variable clinical expressions of a hemorrhagic phenotype.
The defect lies mainly in primary hemostasis, and consists of a qualitative or quantitative deficiency of the glycoprotein (GP) Ib-IX-V complex, which interacts with the von Willebrand factor (VWF) adhered on exposed subendothelial collagen. The GP Ib-IX-V complex also has a role in platelet activation induced by thrombin
and in the binding of coagulation factor XI to the platelet surface.