Congenital platelet function defects
Information, Symptoms, Treatments and Resources
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.
- Nosebleeds
- Bleeding during and after surgery
- Easy bruising
- Prolonged bleeding with small injuries
- Abnormal menstrual periods
- Bleeding gums
The following tests may be used to diagnose this condition:
Other tests may be necessary, including the testing of relatives.There is no specific treatment for these disorders. All people with bleeding disorders should avoid taking aspirin because it is known to prolong bleeding time -- the time it takes to form clotting mechanisms in the blood. Platelet transfusions may be given when patients have severe bleeding.
Treatment can usually control the bleeding. However, congenital platelet function defects are lifelong conditions for which there is no cure. Patients should take precautions to avoid bleeding.
Call your health care provider if bleeding or bruising of an unknown cause is present, or if bleeding does not respond to the usual method of control.
A blood test can detect the gene responsible for the platelet defect. Genetic counseling may be helpful to couples with a family history of a congenital platelet function defect who are planning to have children in the future.
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