Explain the pathophysiology of the following and why each typically has normal coagulation screening tests
a. Bernard-Soulier syndrome
b. Glanzmann's thrombasthenia
c. ?-storage pool disease
d. Gray platelet syndrome
What will be an ideal response?
Answer regarding pathophysiology: Bernard-Soulier syndrome: defect in glycoprotein Ib/IX
Glanzmann's thrombasthenia: defect in glycoprotein IIb/IIIa
-Storage pool disease: defect in dense granules
Gray platelet syndrome: defect in alpha granules
All four of these disorders are inherited qualitative platelet defects. All have defects in platelet function, not in the synthesis of coagulation factors and/or serine proteases. That is why the clot-based coagulation screening tests are typically normal. They all have prolonged bleeding time because the bleeding time assesses platelet function in vivo and have abnormal platelet aggregation studies.
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