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Congenital platelet function defects are problems with one of the blood elements needed for normal clots to form. These cells are called platelets. Congenital means present from birth.
Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital
Congenital platelet function defects are bleeding disorders that cause reduced platelet function, even though there are normal platelet counts.
Most of the time, people with these disorders have a family history of a bleeding disorder. Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. This disorder may cause severe bleeding.
The following tests may be used to diagnose this condition:
You may need other tests. Your relatives may need to be tested.
There is no specific treatment for these disorders.
People with bleeding disorders should avoid taking aspirin and nonsteroidal anti-inflammatory drugs (such as ibuprofen and naproxen) because they are known to affect blood clotting. Patients who have severe bleeding may need platelet transfusions.
Most of the time, treatment can control the bleeding. However, congenital platelet function defects are life-long conditions. There is no cure. People with this problem should take steps to avoid bleeding.
Call your health care provider if:
A blood test can detect the gene responsible for the platelet defect. You may wish to seek genetic counseling if you have a family history of this problem and are considering having children.
Macartney CA, Paredes N, Chan AKC. Disorders of Coagulation in the Neonate. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Saunders Elsevier; 2012:chap 152.
Nichols WL.Von Willebrand Disease and Hemorrhagic Abnormalities of Platelet and Vascular Function. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 176.