Dysfibrinogenemia

Dysfibrinogenemia (pronounced dis-fy-brin-o-gen-e-mia) is a rare genetic disorder that affects the blood clotting process.

Etymology

The term "Dysfibrinogenemia" is derived from the Greek words "dys" meaning bad or difficult, "fibrin" referring to the protein involved in blood clotting, and "emia" meaning condition of the blood.

Definition

Dysfibrinogenemia is a condition characterized by the presence of abnormal fibrinogen in the blood. Fibrinogen is a protein that plays a crucial role in blood clotting. In individuals with dysfibrinogenemia, the fibrinogen protein is structurally or functionally defective, leading to abnormal blood clotting.

Symptoms

Symptoms of dysfibrinogenemia can vary widely among affected individuals. Some people may experience no symptoms (asymptomatic), while others may have mild to severe bleeding or thrombotic complications such as deep vein thrombosis or pulmonary embolism.

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.

Diagnosis

Diagnosis of dysfibrinogenemia is based on laboratory tests that measure the amount and activity 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 typically aimed at managing symptoms. This may include medications to prevent or treat blood clots, or replacement therapy with normal fibrinogen in cases of severe bleeding.

Related Terms

• Coagulation
• Hemostasis
• Thrombosis
• Bleeding disorders
• Genetic disorders

External links

• Medical encyclopedia article on Dysfibrinogenemia
• Wikipedia's article - Dysfibrinogenemia

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