Health Encyclopedia

Congenital afibrinogenemia

Definition

Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not clot normally. It occurs when you are missing or have a problem with a protein called fibrinogen, which is needed for the blood to clot.

Causes, incidence, and risk factors

This rare disease is caused by an abnormal gene that must be passed down from both parents. There may be either a lack of fibrinogen or a defect in the functioning of available fibrinogen. This condition can occur in both sexes. The main risk factor is a family history of bleeding disorders.

Symptoms

Bruising
Nosebleeds
Excessive bleeding after injury or surgery
Gastrointestinal bleeding
Bleeding in joints
Miscarriage

Signs and tests

If the health care provider suspects a bleeding disorder, laboratory tests can determine the type and extent. This disorder usually shows up in childhood, often at birth.

Tests include:

PTT
Prothrombin time (PT)
Clotting time
Fibrinogen levels
Thrombin time
Reptilase time
Bleeding time

All of these tests are abnormal in afibrinogenemia.

Treatment

Patients may receive the liquid portion of the blood (plasma) or a blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) to treat bleeding episodes or to prepare for surgery to treat other conditions. People with this condition should have the hepatitis B vaccine because transfusion increases the risk of hepatitis.

Expectations (prognosis)

Excess bleeding is common with this condition. These episodes may be severe, or even fatal. Bleeding in the brain is a leading cause of death in patients with this disorder.

Complications

Bleeding from the umbilical cord
Bleeding from the mucous membranes
Gastrointestinal bleeding
Intracranial bleeding
Clotting with treatment
Development of antibodies (inhibitors) to fibrinogen with treatment

Calling your health care provider

Call your health care provider or seek emergency care if you have excessive bleeding.

Tell your surgeon before you have surgery if you know or suspect you have a blood disorder.

Prevention

There is no known prevention. Couples who are thinking about having children may find genetic counseling helpful if at least one partner has this condition.

References

Hoffman R, Benz E, Shattil S, Furie B, Cohen H. Hematology: Basic Principles and Practice. 4th ed. Philadelphia, Pa: Churchill Livingstone, 2004.

Asselta R, Duga S, Tenchini ML. The molecular basis of quantitative fibrinogen disorders. J Thromb Haemost. October 2006;4:2115-2129.

Review Date:3/13/2007
Reviewed By:Mark Levin, M.D., Hematologist and Oncologist, Newark, NJ. Review provided by VeriMed Healthcare Network.

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