Bernard Soulier syndrome is a rare hereditary macrothrombocytopenia, with an incidence
of <1 per million.
1
,2
Patients may have variable platelet counts, ranging from <10 × 109/L to normal,
1
as well as variable clinical expressions of a hemorrhagic phenotype.
3
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
4
and in the binding of coagulation factor XI to the platelet surface.
5
,6
Key Words
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Article info
Publication history
Published online: September 12, 2022
Footnotes
Contributions: EC-P, MC, VR, ES, LA, and MK were in charge of the perioperative strategy, discussed it with the patient, and obtained informed consent. ES, VR, EC-P, and MK managed the intraoperative period. EC-P and ES took care of the blood tests. EC-P and MC collected all clinical data. EC-P, MC, LA, and ES drafted the manuscript. EC-P, MC, LA, VR, ES, FD, MD, and MK, read, corrected, and approved the manuscript.
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- Walking a Thin LineJournal of Cardiothoracic and Vascular AnesthesiaVol. 37Issue 1
- PreviewWe congratulate Christophel-Plathier et al. for successfully managing complex coagulation issues in a patient with combined Bernard-Soulier syndrome and storage pool disease who underwent a replacement of ascending aorta and coronary artery bypass grafting during cardiopulmonary bypass.1 We would like to provide additional comments on the pathophysiology and clinical management of Bernard-Soulier syndrome and storage pool disease.
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