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Congenital platelet function defects

Definition:
Congenital platelet function defects are disorders of platelet function, the blood cells essential for the coagulation of the blood, that is present at birth.

Alternative Names:
Storage pool disease; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital

Causes, incidence, and risk factors:

Congenital platelet function defects are bleeding disorders characterized by abnormal platelet function 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 caused by lack of a protein required for platelet aggregation (clumping) This disorder may cause mucosal and postoperative bleeding, and it 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.



Review Date: 6/5/2003
Reviewed By: Ezra E. W. Cohen, M.D., Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

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