Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not
Causes, incidence, and risk factors
This rare disease is caused by an abnormal gene that must be passed down from both parents. It causes a severe lack of
Milder forms can occur in people who inherit only one abnormal gene from their parents. (Dysfibrinogenemia, in which there is a defect in fibrinogen function, is a different condition.)
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
Signs and tests
If the health care provider suspects a bleeding disorder, laboratory tests can determine the type and severity. This disorder usually shows up in childhood, often at birth.
- Fibrinogen levels
Partial thromboplastin time (
Prothrombin time (
- Thrombin time
All of these tests are abnormal in afibrinogenemia.
To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive:
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 have the
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 Miscarriage
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 bleeding disorder.
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.