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Congenital afibrinogenemia

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:

All of these tests are abnormal in afibrinogenemia.


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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