Congenital afibrinogenemia

Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally. It is characterized by the absence of fibrinogen, a protein in the body that helps the blood clot. This condition is caused by mutations in the FGA, FGB, and FGG genes.

Symptoms

The symptoms of congenital afibrinogenemia can vary greatly from person to person. Some people may have no symptoms, while others may experience severe bleeding. Common symptoms include:

• Bleeding that is difficult to stop, even from minor cuts and injuries
• Bruising easily
• Nosebleeds
• Bleeding gums
• Blood in the urine (hematuria)
• Blood in the stool (hematochezia)
• Heavy menstrual bleeding in women
• Bleeding into the joints (hemarthrosis)

Causes

Congenital afibrinogenemia is caused by mutations in the FGA, FGB, and FGG genes. These genes provide instructions for making the three parts (chains) of the fibrinogen protein. Mutations in any of these genes prevent the cells from producing fibrinogen, leading to the signs and symptoms of congenital afibrinogenemia.

Diagnosis

The diagnosis of congenital afibrinogenemia is based on the symptoms, medical history, and a series of blood tests. These tests can measure the amount of fibrinogen in the blood and how well the blood clots.

Treatment

The treatment for congenital afibrinogenemia is aimed at preventing or controlling bleeding episodes. This may include:

• Fibrinogen concentrate or cryoprecipitate, which are blood products that contain fibrinogen
• Antifibrinolytic medications, which can help prevent the breakdown of blood clots
• Hormonal therapy for women with heavy menstrual bleeding

Prognosis

The prognosis for individuals with congenital afibrinogenemia varies. Some people may have few symptoms and lead normal lives, while others may have severe bleeding episodes that can be life-threatening.

See also

• Coagulation
• Hemophilia
• Von Willebrand disease

Congenital afibrinogenemia Resources
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