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Congenital platelet function defects

  • Definition

    Congenital platelet function defects are problems with platelets, one of the blood elements needed for normal blood clotting. Congenital means present from birth.


    Alternative Names

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital


    Causes, incidence, and risk factors

    Platelets are elements in the blood that help form clots. Congenital platelet function defects are bleeding disorders that cause reduced platelet function, even though there are normal platelet counts.

    People with these disorders usually have a family history of a bleeding disorder that causes prolonged bleeding after minor cuts or surgery, 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 the lack of a protein required for platelets to clump together. This disorder may also cause severe bleeding.

    Platelet storage pool disorder is a mild defect that causes bruising. It is caused by faulty storage of substances inside platelets. These substances are usually released to help platelets function properly.