Locations Main Campus: Chesterfield, MO 63017   |   Locations
314-434-1500 314-434-1500   |   Contact Us

Multimedia Encyclopedia


 
E-mail Form
Email Results

 
 
Print-Friendly
Bookmarks
bookmarks-menu

Congenital platelet function defects

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

 

Congenital platelet function defects are problems with one of the blood elements needed for clots to form normally. These cells are called platelets. Congenital means present from birth.

Causes

 

Congenital platelet function defects are bleeding disorders that cause reduced platelet function, even though there are normal platelet numbers.

Most of the time, people with these disorders have a family history of a bleeding disorder:

  • Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. This disorder may cause severe bleeding.
  • Glanzmann thrombasthenia is a condition caused by the lack of a protein needed for platelets to clump together. This disorder may also cause severe bleeding.
  • Platelet storage pool disorder (also called platelet secretion disorder) occurs when substances called granules inside platelets aren't stored or released properly. Granules help platelets function properly. This disorder causes easy bruising or bleeding.

 

Symptoms

 

Symptoms may include any of the following:

  • Excessive bleeding during and after surgery
  • Bleeding gums
  • Easy bruising
  • Heavy menstrual periods
  • Nosebleeds
  • Prolonged bleeding with small injuries

 

Exams and Tests

 

The following tests may be used to diagnose this condition:

  • Bleeding time
  • Complete blood count (CBC)
  • Partial thromboplastin time (PTT)
  • Platelet aggregation test
  • Prothrombin time (PT)

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

 

Treatment

 

There is no specific treatment for these disorders. However, your health care provider will likely monitor your condition.

You may also need:

  • To avoid taking aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen, because they can worsen bleeding symptoms.
  • Platelet transfusions, such as during surgery or dental procedures.

 

Outlook (Prognosis)

 

There is no cure for congenital platelet function disorders. Most of the time, treatment can control the bleeding.

 

Possible Complications

 

Complications may include:

  • Severe bleeding
  • Iron deficiency anemia in menstruating women

 

When to Contact a Medical Professional

 

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. You may wish to seek genetic counseling if you have a family history of this problem and are considering having children.

 

 

References

Kottke-Marchant K. Platelet disorders. In: Hsi ED, ed. Hematopathology. 2nd ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 2.

Nichols WL. Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 173.

 
  • Blood clot formation

    Blood clot formation - illustration

    Blood clotting normally occurs when there is damage to a blood vessel. Platelets immediately begin to adhere to the cut edges of the vessel and release chemicals to attract even more platelets. A platelet plug is formed, and the external bleeding stops. Next, small molecules, called clotting factors, cause strands of blood-borne materials, called fibrin, to stick together and seal the inside of the wound. Eventually, the cut blood vessel heals and the blood clot dissolves after a few days.

    Blood clot formation

    illustration

  • Blood clots

    Blood clots - illustration

    Blood clots (fibrin clots) are the clumps that result when blood coagulates.

    Blood clots

    illustration

    • Blood clot formation

      Blood clot formation - illustration

      Blood clotting normally occurs when there is damage to a blood vessel. Platelets immediately begin to adhere to the cut edges of the vessel and release chemicals to attract even more platelets. A platelet plug is formed, and the external bleeding stops. Next, small molecules, called clotting factors, cause strands of blood-borne materials, called fibrin, to stick together and seal the inside of the wound. Eventually, the cut blood vessel heals and the blood clot dissolves after a few days.

      Blood clot formation

      illustration

    • Blood clots

      Blood clots - illustration

      Blood clots (fibrin clots) are the clumps that result when blood coagulates.

      Blood clots

      illustration

    A Closer Look

     

    Self Care

     

      Tests for Congenital platelet function defects

       

         

        Review Date: 2/13/2015

        Reviewed By: Rita Nanda, MD, Assistant Professor of Medicine, Section of Hematology/Oncology, University of Chicago Medicine, Chicago, IL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

        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. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
        adam.com

         
         
         

         

         

        A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.



        Content is best viewed in IE9 or above, Firefox and Google Chrome browser.