Bernard-Soulier syndrome is associated with which of the following?

Bernard-Soulier syndrome is associated with which of the following?

• A. Decreased bleeding time
• B. Decreased factor VIII assay
• C. Thrombocytopenia and giant platelets
• D. Abnormal platelet aggregation to ADP

Answer: (C)

Bernard-Soulier syndrome is a genetic disorder that primarily affects platelet function and morphology. The hallmark features of this condition include thrombocytopenia, which refers to a reduced number of platelets in the blood, and the presence of giant platelets, which are larger than normal. This syndrome results from defects in the glycoprotein (GP) Ib-IX-V complex on the platelets, which is crucial for normal platelet adhesion to von Willebrand factor and blood vessel walls. Consequently, patients with Bernard-Soulier syndrome will show a significant reduction in the platelet count and a distinct increase in the size of the platelets, which is a key diagnostic criterion for the syndrome. This phenomenon can be distinguished from other causes of thrombocytopenia based on the morphology of the platelets seen on a peripheral blood smear. In contrast, the other options do not accurately reflect the characteristics of Bernard-Soulier syndrome, which further emphasizes that option C accurately captures the perceived condition. The abnormality in platelet aggregation in response to ADP, while notable, is not a direct hallmark of this specific syndrome compared to the prominent features of thrombocytopenia and giant platelets. Hence, option C is the best representation of the syndrome’s

Bernard-Soulier syndrome is a genetic disorder that primarily affects platelet function and morphology. The hallmark features of this condition include thrombocytopenia, which refers to a reduced number of platelets in the blood, and the presence of giant platelets, which are larger than normal. This syndrome results from defects in the glycoprotein (GP) Ib-IX-V complex on the platelets, which is crucial for normal platelet adhesion to von Willebrand factor and blood vessel walls.

Consequently, patients with Bernard-Soulier syndrome will show a significant reduction in the platelet count and a distinct increase in the size of the platelets, which is a key diagnostic criterion for the syndrome. This phenomenon can be distinguished from other causes of thrombocytopenia based on the morphology of the platelets seen on a peripheral blood smear.

In contrast, the other options do not accurately reflect the characteristics of Bernard-Soulier syndrome, which further emphasizes that option C accurately captures the perceived condition. The abnormality in platelet aggregation in response to ADP, while notable, is not a direct hallmark of this specific syndrome compared to the prominent features of thrombocytopenia and giant platelets. Hence, option C is the best representation of the syndrome’s