Health Encyclopedia

Congenital platelet function defects

Definition

Congenital platelet function defects are problems with the blood cells that are needed for blood clotting. Congenital means present from birth.

Alternative Names

Storage pool disease; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital

Causes, incidence, and risk factors

Platelets are cells that help the blood clot. Congenital platelet function defects are bleeding disorders that involve abnormal platelet function despite normal platelet counts.

There is usually a family history of a bleeding disorder consisting of prolonged bleeding 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 lack of a protein required for platelet to clump together. This disorder may cause severe bleeding.

Storage pool disease is a mild defect that causes bruising. The risk factor is a family history of a bleeding disorder.

Symptoms

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

Signs and tests

The following tests may be used to diagnose this condition:

Other tests may be necessary, including the testing of relatives.

Treatment

There is no specific treatment for these disorders. All people with bleeding disorders should avoid taking aspirin because it is known to prolong bleeding time -- the time it takes to form clotting mechanisms in the blood. Platelet transfusions may be given when patients have severe bleeding.

Expectations (prognosis)

Treatment can usually control the bleeding. However, congenital platelet function defects are lifelong conditions for which there is no cure. Patients should take precautions to avoid bleeding.

Complications

Severe bleeding
Iron deficiency anemia in menstruating women

Calling your health care provider

Call your health care provider if bleeding or bruising of an unknown cause is present, or if 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.

Review Date:2/6/2007
Reviewed By:William Matsui, MD, Assistant Professor of Oncology, Division of Hematologic Malignancies, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD. Review provided by VeriMed Healthcare Network.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.