MedlinePlus Medical Encyclopedia: Congenital platelet function defects

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Congenital platelet function defects

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Blood clot formation

Blood clots

Alternative names Return to top

Storage pool disease; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital

Definition Return to top

Congenital platelet function defects are disorders of platelet function, the blood cells essential for the coagulation of the blood, that is present at birth.

Causes, incidence, and risk factors Return to top

Congenital platelet function defects are bleeding disorders characterized by abnormal platelet function 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 caused by lack of a protein required for platelet aggregation (clumping) This disorder may cause mucosal and postoperative bleeding, and it 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.

Symptoms Return to top

Nosebleeds
Intraoperative and postoperative bleeding
Easy bruising
Prolonged bleeding with superficial injuries
Menstrual periods, abnormal
Bleeding gums

Signs and tests Return to top

CBC that may reveal normal, or occasionally low, platelet count
Prolonged bleeding time
Platelet aggregation test
Normal PT, PTT

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

Treatment Return to top

There 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 may be administered when patients have severe bleeding.

Expectations (prognosis) Return to top

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 Return to top

Severe bleeding
Iron deficiency anemia in menstruating women

Calling your health care provider Return to top

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.

Prevention Return to top

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.

Update Date: 6/5/2003

Updated by: Ezra E. W. Cohen, M.D., Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

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