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Congenital afibrinogenemia


Definition:

Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not clot normally. It occurs when there is a  protein called fibrinogen is totally lacking. This protein is needed for the blood to clot.

Causes:

This rare disease is caused by an abnormal gene that causes a severe lack of fiborgen. The gene must be passed down from both parents.

Milder forms can occur in people who inherit only one abnormal gene from their parents. Congenital afibrinogenemia can occur in males or females. The main risk factor is a family history of bleeding disorders.

Symptoms:
  • Bruising
  • Bleeding from the umbilical cord just after birth
  • Bleeding in joints
  • Excessive bleeding after injury or surgery
  • Nosebleeds
Exams and Tests:

If your health care provider suspects this problem, you will have lab tests to confirm the type and severity of the disorder.

This disorder usually shows up in children, often at birth.

Tests include:

  • Bleeding time
  • Fibrinogen levels
  • Partial thromboplastin time (PTT)
  • Prothrombin time (PT)
  • Reptilase time
  • Thrombin time

You will have abnormal results on all of these tests if you have the disorder.

Treatment:

The following treatments can be used for bleeding episodes or to prepare for surgery:

  • Cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors) through a vein (transfusion)
  • Fibrinogen (RiaSTAP)
  • Plasma (the liquid portion of the blood containing clotting factors)

People with this condition should get the hepatitis B vaccine. Having many transfusions raises your risk for getting hepatitis.

Outlook (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.

Possible Complications:
  • Bleeding from the umbilical cord
  • Bleeding from the mucus membranes
  • Bleeding in the brain (intracranial bleeding)
  • Clotting with treatment
  • Development of antibodies (inhibitors) to fibrinogen with treatment
  • Gastrointestinal bleeding
  • Miscarriage
When to Contact a Medical Professional:

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 bleeding disorder.

Prevention:

There is no known prevention. You may want to seek genetic counseling if you or your partner has this condition and you are considering having children.

References:

Gailani D, Neff AT. Rare coagulation factor deficiencies. 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 139.

Ravi MV. Hemorrhagic disorders: Coagulation factor deficiencies In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 177.


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 physician 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. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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