Congenital platelet function defects are problems with platelets, one of the blood elements needed for normal blood clotting. Congenital means present from birth.
Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital
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.
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.
Treatment can usually control the bleeding. However, congenital platelet function defects are life-long conditions. There is no cure. Patients should take precautions to avoid bleeding.
Call your health care provider if:
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.
Bennett JS. Hereditary disorders of platelet function. In: Hoffman R, Benz EJ, Jr., Shattil SJ, et al, eds. Hoffman Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Churchill Livingstone Elsevier; 2008:chap141.
McMillan R. Hemorrhagic disorders: Abnormalities of platelet and vascular function. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 179.
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.