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Perioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery

Published:September 12, 2022DOI:https://doi.org/10.1053/j.jvca.2022.09.078
      Bernard Soulier syndrome is a rare hereditary macrothrombocytopenia, with an incidence of <1 per million.
      • López JA
      • Andrews RK
      • Afshar-Kharghan V
      • et al.
      Bernard-Soulier syndrome.
      ,
      • Aliotta A
      • Bertaggia Calderara D
      • Zermatten MG
      • et al.
      Thrombocytopathies: Not just aggregation defects-the clinical relevance of procoagulant platelets.
      Patients may have variable platelet counts, ranging from <10 × 109/L to normal,
      • López JA
      • Andrews RK
      • Afshar-Kharghan V
      • et al.
      Bernard-Soulier syndrome.
      as well as variable clinical expressions of a hemorrhagic phenotype.
      • Boeckelmann D
      • Hengartner H
      • Greinacher A
      • et al.
      Patients with Bernard-Soulier syndrome and different severity of the bleeding 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
      • Berndt MC
      • Fournier DJ
      • Castaldi PA.
      Bernard-Soulier syndrome.
      and in the binding of coagulation factor XI to the platelet surface.
      • Heemskerk JWM
      • Mattheij NJA
      • Cosemans JMEM.
      Platelet-based coagulation: Different populations, different functions.
      ,
      • Wu J
      • Heemskerk JWM
      • Baaten CCFMJ.
      Platelet membrane receptor proteolysis: Implications for platelet function.

      Key Words

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      Linked Article

      • Walking a Thin Line
        Journal of Cardiothoracic and Vascular AnesthesiaVol. 37Issue 1
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          We 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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