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Congenital platelet function defects

Alternative names:

Bernard-Soulier syndrome; Glanzmann's thrombasthenia; platelet function defects - congenital; storage pool disease

Definition:

A disorder of platelet function, the blood cells essential for the coagulation of the blood, that is present at birth.

Causes, incidence, and risk factors:

Congenital platelet function defects are bleeding disorders characterized by prolonged bleeding time (the time it takes to form clotting mechanisms in the blood) in spite of normal platelet counts. There is usually a family history of a bleeding disorder consisting of prolonged bleeding or easy bruising. Bernard-Soulier syndrome is a congenital disorder where the platelets lack receptors to adhere to the walls of the blood vessels. Bleeding may be severe with this disorder. Glanzmann's thrombasthenia is a condition which causes mucosal and postoperative bleeding and may also be severe. Storage pool disease is a mild bleeding disorder that causes bruising. The risk factor is a family history of a bleeding disorder.


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