Congenital hypofibrinogenemia is a genetic disorder where there is a reduced level of circulating fibrinogen in the blood (below 100 mg/dl).
Fibrinogen, also called coagulation factor I, is a protein produced by the liver with a primary role in the formation of a blood clot. When there is a hemorrhage, the coagulation cascade is activated to stop the bleeding. If the fibrinogen level in the blood is low, the clotting process and the bleeding are prolonged.
Congenital hypofibrinogenemia is a genetic disorder due to heterozygous mutations in genes related to fibrinogen, located on chromosome 4.
It is inherited with an autosomal dominant pattern.
Many patients affected with congenital hypofibrinogenemia are asymptomatic.
The most common sign is severe bleeding after surgery or suffering an injury due to the low concentration of fibrinogen in the blood.
Hypofibrinogenemia is associated with recurrent miscarriages in the first trimester of pregnancy.
The true incidence is unknown since many cases are asymptomatic and never come to medical attention, but it has an estimated incidence above 1 case per 1.000.000.
In hypofibrinogenemia, the level of fibrinogen in the blood is reduced in the range of 20 to 100 mg/dl when the normal range is usually above 200 mg/dl.
When there is a lack of fibrinogen in the blood (the fibrinogen level is below 2 mg/dl) is called afibrinogenemia.
The screening tests for prothrombin time (PT) and activated partial thromboplastin time (aPTT) are also prolonged due to the problems in the clotting process.
It is recommended to monitor the fibrinogen level in the blood to keep a value of at least 100 mg/dl. To increase the fibrinogen level in the blood there are different alternatives:
Prior to surgery or childbirth, when there is a risk of severe bleeding, it is advisable to receive fibrinogen replacement to increase the amount of fibrinogen in the blood.