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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.

  • Alternative Names

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital

  • Causes, incidence, and risk factors

    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.

    People with these disorders usually have a family history of a bleeding disorder that causes prolonged bleeding after minor cuts or surgery, 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 the lack of a protein required for platelets to clump together. This disorder may also cause severe bleeding.

    Platelet storage pool disorder is a mild defect that causes bruising. It is caused by faulty storage of substances inside platelets. These substances are usually released to help platelets function properly.

  • Symptoms
  • Signs and tests

    The following tests may be used to diagnose this condition:

    You may need other tests. Your relatives may need to be tested.

  • Treatment

    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.

  • 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.

  • Complications
  • Calling your health care provider

    Call your health care provider if:

    • You have bleeding or bruising and do not know the cause
    • Bleeding does not respond to the usual method of control
  • Prevention

    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.

  • References

    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.

Review Date: 3/2/2009

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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2014 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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