Congenital platelet function defects

Causes and Risks:
Congenital platelet function defects are bleeding disorders characterized by prolonged bleeding time (the time it takes to form clotting mechanisms in the blood) in spite of normal platelet counts. There is usually a family history of a bleeding disorder consisting of prolonged bleeding or easy bruising . Bernard-Soulier syndrome is a congenital disorder where the platelets lack receptors to adhere to the walls of the blood vessels. Bleeding may be severe with this disorder. Glanzmann's thrombasthenia is a condition which causes mucosal and postoperative bleeding and may also be severe. Storage pool disease is a mild bleeding disorder that causes bruising. The risk factor is a family history of a bleeding disorder.

Prevention:
Laboratory studies can detect the defective gene responsible for these platelet disorders. Genetic counseling may be of value to couples with a family history of any of these disorders who are planning children in the future.

Symptoms:



Signs and Tests:
A physical examination reveals overt hemorrhage.

Other tests may be necessary, including the testing of relatives.

Treatment:
The is no specific treatment for these disorders. All people with bleeding disorders should avoid taking aspirin, because it is known to prolong the bleeding time (the time it takes to form clotting mechanisms in the blood). Platelet transfusions are administered when patients are symptomatic .

Prognosis:
Treatment can usually control the bleeding , but these are lifelong conditions for which there is no cure. Precautions to avoid catastrophic bleeding should be taken.

Complications:



Call Your Healthcare Provider:
Call your health care provider if bleeding or bruising of unknown cause is present, or bleeding does not respond to the usual method of control.