About Familial afibrinogenemia

What is Familial afibrinogenemia?

Familial afibrinogenemia is a rare inherited disorder that affects the body's ability to form blood clots. It is caused by a deficiency of the protein fibrinogen, which is essential for the formation of blood clots. People with this disorder are at risk of excessive bleeding, even from minor injuries. Treatment typically involves replacement therapy with fibrinogen concentrate.

What are the symptoms of Familial afibrinogenemia?

The symptoms of Familial afibrinogenemia can vary from person to person, but may include:

-Easy bruising
-Excessive bleeding from cuts or injuries
-Heavy menstrual bleeding
-Nosebleeds
-Bleeding gums
-Blood in the urine or stool
-Joint pain
-Fatigue
-Headaches
-Dizziness
-Fainting

What are the causes of Familial afibrinogenemia?

Familial afibrinogenemia is caused by mutations in the genes that code for the proteins involved in the production of fibrinogen, a protein that helps the blood to clot. Mutations in the FGA, FGB, and FGG genes are the most common causes of familial afibrinogenemia.

What are the treatments for Familial afibrinogenemia?

The primary treatment for Familial afibrinogenemia is replacement therapy with a fibrinogen concentrate. This is usually done through intravenous (IV) infusion, and may be done on a regular basis or as needed. Other treatments may include antifibrinolytic agents, such as tranexamic acid, to help reduce bleeding episodes. In some cases, a blood transfusion may be necessary. In addition, patients may need to take steps to reduce their risk of bleeding, such as avoiding certain medications and activities that could increase the risk of bleeding.

What are the risk factors for Familial afibrinogenemia?

1. Family history of afibrinogenemia
2. Genetic mutations in the FGA, FGB, and FGG genes
3. Pregnancy
4. Certain medications, such as heparin
5. Liver disease
6. Kidney disease
7. Certain infections, such as hepatitis C
8. Certain autoimmune disorders, such as lupus
9. Certain blood disorders, such as thrombocytopenia

Is there a cure/medications for Familial afibrinogenemia?

Yes, there is a cure for Familial afibrinogenemia. Treatment involves regular infusions of a purified form of fibrinogen, a protein that helps the blood clot. This treatment can help prevent bleeding episodes and reduce the risk of serious complications. Medications such as desmopressin (DDAVP) and tranexamic acid may also be used to help control bleeding.