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• W4295345768 abstract "Bernard Soulier syndrome is a rare hereditary macrothrombocytopenia, with an incidence of <1 per million. 1 López JA Andrews RK Afshar-Kharghan V et al. Bernard-Soulier syndrome. Blood. 1998; 91: 4397-4418 Crossref PubMed Google Scholar ,2 Aliotta A Bertaggia Calderara D Zermatten MG et al. Thrombocytopathies: Not just aggregation defects-the clinical relevance of procoagulant platelets. J Clin Med. 2021; 10: 894 Crossref PubMed Scopus (13) Google Scholar Patients may have variable platelet counts, ranging from <10 × 109/L to normal, 1 López JA Andrews RK Afshar-Kharghan V et al. Bernard-Soulier syndrome. Blood. 1998; 91: 4397-4418 Crossref PubMed Google Scholar as well as variable clinical expressions of a hemorrhagic phenotype. 3 Boeckelmann D Hengartner H Greinacher A et al. Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype. Blood Cells Mol Dis. 2017; 67: 69-74 Crossref PubMed Scopus (17) Google Scholar 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 Berndt MC Fournier DJ Castaldi PA. Bernard-Soulier syndrome. Baillieres Clin Haematol. 1989; 2: 585-607 Abstract Full Text PDF PubMed Scopus (27) Google Scholar and in the binding of coagulation factor XI to the platelet surface. 5 Heemskerk JWM Mattheij NJA Cosemans JMEM. Platelet-based coagulation: Different populations, different functions. J Thromb Haemost. 2013; 11: 2-16 Crossref PubMed Scopus (252) Google Scholar ,6 Wu J Heemskerk JWM Baaten CCFMJ. Platelet membrane receptor proteolysis: Implications for platelet function. Front Cardiovasc Med. 2020; 7608391 Google Scholar Walking a Thin LineJournal of Cardiothoracic and Vascular AnesthesiaVol. 37Issue 1PreviewWe 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. Full-Text PDF" @default.
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• W4295345768 date "2023-01-01" @default.
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• W4295345768 title "Perioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery" @default.
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• W4295345768 doi "https://doi.org/10.1053/j.jvca.2022.09.078" @default.
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