Which is not true regarding Bernard Soulier syndrome –
Correct Answer: Ristocetin aggregation is normal
Description: Bernard Soulier Syndrome
Autosomal recessive disorder.
Deficiency/dysfunction of Gp Ib/ IX receptor
Platelets cannot adhere to subendothelium because of lack of above receptors for VWF which mediates platelets adhesion.
Platelet, aggregation is normal in response to standard agonists ( collagen, ADP, thrombin) but platelets fail to aggregate in response to ristocetin as it acts by a different mechanism.
Other laboratory parameters :
Thrombocytopenia may be present.
Platelets on smear are abnormally large.
Bleeding time is abnormally prolonged.
VWF factor levels in plasma are normal.
Clinical presentation :
Recurrent episodes of severe mucosal hemorrhage.
Glanzman's thrombasthenia
Autosomal recessive disorder.
Deficiency/dysfunction of Gp IIb/ IIIa complex.
Platelets cannot aggregate because of lack of above receptors for fibrinogen which form bridges between platelets during aggregation.
Platelet aggregation is largely abnormal.Platelests fail to aggregate in response to standard agonists ( collagen, ADP, thrombin) as these require fibrinogen binding but aggregate normally to ristocetin as it causes platelet clumping by a different mechanism.
Other laboratory parameters :
Platelet number is usually normal
Platelet morphology is usually normal..
Bleeding time is abnormally prolonged.
VWF factor levels in plasma are normal.
Clinical presentation
Recurrent episodes of severe mucosal hemorrhage.
Category:
Pathology
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