Dysfibrinogenemia

Dysfibrinogenemia is a rare genetic disorder that affects the blood clotting process. It is characterized by the production of abnormal fibrinogen, a protein that is essential for blood clotting. This condition can lead to either excessive or insufficient blood clotting.

Causes

Dysfibrinogenemia is caused by mutations in the FGA, FGB, or FGG genes. These genes provide instructions for making the three different chains of the fibrinogen protein. Mutations in any of these genes can result in the production of abnormal fibrinogen.

Symptoms

The symptoms of dysfibrinogenemia can vary widely, even among members of the same family. Some individuals with this condition do not have any symptoms, while others may experience excessive bleeding or abnormal blood clotting. The most common symptoms include nosebleeds, bruising, menorrhagia (heavy menstrual bleeding), and postpartum hemorrhage (heavy bleeding after childbirth).

Diagnosis

Diagnosis of dysfibrinogenemia is based on laboratory tests that measure the amount and function of fibrinogen in the blood. Genetic testing can also be used to identify mutations in the FGA, FGB, or FGG genes.

Treatment

Treatment for dysfibrinogenemia is aimed at managing the symptoms and preventing complications. This may include medications to control bleeding or prevent blood clots, and in severe cases, fibrinogen replacement therapy.

See also

• Blood clot
• Fibrinogen
• Genetic disorder
• Mutation

References

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