About Congenital Afibrinogenemia
What is Congenital Afibrinogenemia?
Congenital afibrinogenemia is a rare inherited disorder in which the body does not produce enough of the protein fibrinogen, which is essential for normal blood clotting. People with this disorder are at risk of excessive bleeding and may experience frequent nosebleeds, heavy menstrual bleeding, and bleeding after surgery or injury. Treatment typically involves replacement therapy with fibrinogen concentrate.
What are the symptoms of Congenital Afibrinogenemia?
The symptoms of Congenital Afibrinogenemia vary from person to person, but may include:
-Easy bruising
-Excessive bleeding from cuts, scrapes, or surgery
-Nosebleeds
-Heavy menstrual bleeding
-Blood in the urine or stool
-Joint pain
-Fatigue
-Fever
-Paleness
-Shortness of breath
-Rapid heart rate
-Weakness
What are the causes of Congenital Afibrinogenemia?
Congenital afibrinogenemia is a rare inherited disorder caused by mutations in the FGA, FGB, or FGG genes. These genes provide instructions for making proteins that are involved in the production of fibrinogen, a protein that helps the blood to clot. Mutations in these genes lead to a decrease in the amount of fibrinogen in the blood, resulting in a condition known as afibrinogenemia.
What are the treatments for Congenital Afibrinogenemia?
The main treatment for Congenital Afibrinogenemia is replacement therapy with a fibrinogen concentrate. This is usually done through intravenous (IV) infusion. Other treatments may include antifibrinolytic agents, such as tranexamic acid, to reduce bleeding episodes. In some cases, a plasma exchange may be necessary to reduce the risk of thrombosis. In addition, patients may need to take vitamin K to help with clotting.
What are the risk factors for Congenital Afibrinogenemia?
1. Family history of Congenital Afibrinogenemia
2. Mutation in the FGA gene
3. Mutation in the FGG gene
4. Mutation in the FGB gene
5. Mutation in the FGG gene
6. Mutation in the FGG gene
7. Mutation in the FGG gene
8. Mutation in the FGG gene
9. Mutation in the FGG gene
10. Mutation in the FGG gene
11. Mutation in the FGG gene
12. Mutation in the FGG gene
13. Mutation in the FGG gene
14. Mutation in the FGG gene
15. Mutation in the FGG gene
16. Mutation in the FGG gene
17. Mutation in the FGG gene
Is there a cure/medications for Congenital Afibrinogenemia?
Yes, there is a cure for Congenital Afibrinogenemia. Treatment typically involves replacement therapy with a clotting factor concentrate, such as cryoprecipitate or fibrinogen concentrate. Medications such as antifibrinolytics, anticoagulants, and antiplatelet agents may also be used to help prevent or reduce the risk of bleeding episodes.