Hypofibrinogenemia

Hypofibrinogenemia is a rare, inherited disorder characterized by the production of abnormal fibrinogen, a protein that is essential for blood clotting. This condition can lead to excessive bleeding or thrombosis, depending on the specific mutation involved.

Causes

Hypofibrinogenemia is caused by mutations in the Fibrinogen genes, which are responsible for the production of fibrinogen. These mutations can either reduce the amount of fibrinogen produced or alter its structure, impairing its ability to function properly.

Symptoms

The symptoms of hypofibrinogenemia can vary widely, ranging from no symptoms at all to severe bleeding or thrombosis. Some individuals may experience only mild bleeding, such as nosebleeds or easy bruising, while others may have severe bleeding episodes that can be life-threatening.

Diagnosis

The diagnosis of hypofibrinogenemia is typically made through blood tests that measure the amount and function of fibrinogen in the blood. Genetic testing can also be used to identify the specific mutation causing the condition.

Treatment

The treatment for hypofibrinogenemia depends on the severity of the symptoms. In some cases, no treatment may be necessary. In others, treatment may involve the use of medications to increase the amount of fibrinogen in the blood or to prevent clotting.

See also

• Coagulation
• Hemostasis
• Fibrinolysis

References

Hypofibrinogenemia Resources
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