What is the appearance of Bernard-Soulier syndrome in platelet function testing?

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What is the appearance of Bernard-Soulier syndrome in platelet function testing?

Ristocetin-induced platelet aggregation depends on von Willebrand factor binding to the platelet GPIb-IX-V receptor. In Bernard-Soulier syndrome, there is a deficiency or dysfunction of the GPIb-IX-V complex on the platelets. Without this receptor, ristocetin cannot mediate the bridging of platelets by vWF, so aggregation is noticeably reduced or incomplete despite normal or high levels of vWF. This pattern helps distinguish Bernard-Soulier from other causes: in von Willebrand disease the ristocetin response is also reduced but can be corrected by normal plasma supplying functional vWF, while in Glanzmann thrombasthenia the ristocetin response is normal because the defect is in GPIIb/IIIa, not GPIb. So the hallmark appearance is incomplete (reduced) ristocetin-induced platelet aggregation.

Ristocetin-induced platelet aggregation depends on von Willebrand factor binding to the platelet GPIb-IX-V receptor. In Bernard-Soulier syndrome, there is a deficiency or dysfunction of the GPIb-IX-V complex on the platelets. Without this receptor, ristocetin cannot mediate the bridging of platelets by vWF, so aggregation is noticeably reduced or incomplete despite normal or high levels of vWF. This pattern helps distinguish Bernard-Soulier from other causes: in von Willebrand disease the ristocetin response is also reduced but can be corrected by normal plasma supplying functional vWF, while in Glanzmann thrombasthenia the ristocetin response is normal because the defect is in GPIIb/IIIa, not GPIb. So the hallmark appearance is incomplete (reduced) ristocetin-induced platelet aggregation.

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