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 of Congenital afibrinogenemia
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.
Congenital afibrinogenemia Symptoms
- Bleeding from the umbilical cord just after birth
- Bleeding in joints
- Excessive bleeding after injury or surgery
Tests and Exams
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.
- 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 of Congenital afibrinogenemia
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.
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.
- 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
When to Contact a Health 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 of Congenital afibrinogenemia
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.
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.