Chilton Medical Center - ATLANTIC HEALTH SYSTEM
Decrease (-) Restore Default Increase (+)  font size
PrintEmail
Search Health Information   

Blood clot formation
Blood clot formation


Blood clots
Blood clots


Congenital platelet function defects

Definition:

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



Alternative Names:

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



Causes:

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

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's 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) is due to a defect that cause easy bleeding or bruising. It is caused by the faulty storage of substances inside platelets. These substances are usually released to help platelets function properly.


Symptoms:
  • 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:

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.



Outlook (Prognosis):

Most of the time, treatment can control the bleeding. However, congenital platelet function defects are life-long conditions. There is no cure. People with this problem should take steps to avoid bleeding.



Possible Complications:

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:

Macartney CA, Paredes N, Chan AKC. Disorders of Coagulation in the Neonate. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Saunders Elsevier; 2012:chap 152.

Nichols WL.Von Willebrand Disease and Hemorrhagic Abnormalities of Platelet and Vascular Function. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 176.




Review Date: 3/3/2013
Reviewed By: Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, Bethanne Black, Stephanie Slon, and Nissi Wang.

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- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com


Morristown Medical Center
100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Overlook Medical Center
99 Beauvoir Avenue
Summit, NJ 07901
908-522-2000

Newton Medical Center
175 High Street
Newton, NJ 07860
973-383-2121

Chilton Medical Center
97 West Parkway
Pompton Plains, NJ 07444
973-831-5000

Goryeb Children's Hospital
100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Atlantic Medical Group
1-800-247-9580

Morristown Medical Center

100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Overlook Medical Center

99 Beauvoir Avenue
Summit, NJ 07901
908-522-2000

Newton Medical Center

175 High Street
Newton, NJ 07860
973-383-2121

Chilton Medical Center

97 West Parkway
Pompton Plains, NJ 07444
973-831-5000

Goryeb Children's Hospital

100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Affiliated Providers

Atlantic Medical Group

More than 600 community-based health care providers.
1-800-247-9580

© 2015 Chilton Medical Center, 97 West Parkway, Pompton Plains, New Jersey 1-973-831-5000