Congenital platelet function defects

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Blood clot formation

Blood clots

Congenital platelet function defects are problems with the blood cells that are needed for blood clotting. Congenital means present from birth.

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

Platelets are cells that help the blood clot. Congenital platelet function defects are bleeding disorders that involve abnormal platelet function despite normal platelet counts.

There is usually a family history of a bleeding disorder consisting of prolonged bleeding or easy bruising.

Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. This disorder may cause severe bleeding.

Glanzmann's thrombasthenia is a condition caused by lack of a protein required for platelet to clump together. This disorder may cause severe bleeding.

Storage pool disease is a mild defect that causes bruising. The risk factor is a family history of a bleeding disorder.

Review Date: 02/06/2007
Reviewed By: William Matsui, MD, Assistant Professor of Oncology, Division of Hematologic Malignancies, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD. Review provided by VeriMed Healthcare Network.