Congenital hypofibrinogenemia
Congenital hypofibrinogenemia is a rare, inherited blood disorder characterized by the low levels of fibrinogen in the blood. Fibrinogen is a protein that plays a crucial role in blood clotting.
Symptoms[edit | edit source]
The symptoms of congenital hypofibrinogenemia can vary greatly from person to person. Some individuals may have no symptoms (asymptomatic) while others may experience excessive bleeding or thrombosis.
Causes[edit | edit source]
Congenital hypofibrinogenemia is caused by mutations in the FGA, FGB, or FGG genes. These genes provide instructions for making the three parts (alpha, beta, and gamma chains) of the fibrinogen protein.
Diagnosis[edit | edit source]
Diagnosis of congenital hypofibrinogenemia is based on a clinical evaluation, detailed patient history, and specialized laboratory tests that can measure the amount of fibrinogen in the blood.
Treatment[edit | edit source]
Treatment is directed toward the specific symptoms that are apparent in each individual. In some cases, treatment may not be necessary. In other cases, treatment may include fibrinogen concentrate or cryoprecipitate to replace the missing fibrinogen.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
| Congenital hypofibrinogenemia Resources | |
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Contributors: Prab R. Tumpati, MD
