Alternative Names
Storage pool disease; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital
Definition of Congenital platelet function defects:
Congenital platelet function defects are problems with the blood cells that are needed for blood clotting. Congenital means present from birth.
Causes, incidence, and risk factors:
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.
