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

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

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

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

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

• Blood clot
• Coagulation
• Hemostasis

References

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External links

• Orphanet
• National Organization for Rare Disorders (NORD)

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