Alternative Names
Platelet storage pool disorder; Glanzmann’s thrombasthenia; Bernard-Soulier syndrome; Platelet function defects – congenital
Definition of Congenital platelet function defects
Congenital platelet function defects are problems with platelets, one of the blood elements needed for normal blood clotting. Congenital means present from birth.
Causes, incidence, and risk factors
Platelets are elements in the blood that help form clots. Congenital platelet function defects are that cause reduced platelet function, even though there are normal platelet counts.
Signs and tests
The following tests may be used to diagnose this condition:
Treatment
There is no specific treatment for these disorders.
Expectations (prognosis)
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.
Review
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. – 3/2/2009
