Features of diagnostics of Bernard–Soulier syndrome

Bernard–Soulier syndrome (BSS) is the rare platelet disorder. It is caused by the deficiency or defect of the glycoprotein (GP) Ib-IX-V complex on the surface of platelets – the main receptor for von Willebrand factor (vWF). Binding of vWF with GP Ib-IX-V complex initiates primary hemostasis and provides platelets adhesion at the site of the injured blood vessel. Dissociation of plasma, vascular and thrombocytic hemostasis gives rise to the development of the microcirculatory or mixed hemorrhagic syndrome. The typical features of such types are considered in the clinical case of the BSS female patient. Diagnostic algorithm for BSS includes the evaluation of functional properties, morphology and biochemical characteristics of platelets with the compulsory use of flow cytometry, allowing to reveal the deficiency of GP Ib-IX-V complex on the surface of platelets.

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