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.
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.
Partial thromboplastin time ( PTT)
Prothrombin time ( PT)
You will have abnormal results on all of these tests if you have the disorder.
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)
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.
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
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.
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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.
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.
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