About Congenital factor XI deficiency

What is Congenital factor XI deficiency?

Congenital factor XI deficiency is an inherited bleeding disorder caused by a deficiency of factor XI, a clotting factor in the blood. People with this disorder have a higher risk of bleeding, especially after surgery or trauma. Symptoms may include easy bruising, prolonged bleeding from cuts, and excessive bleeding after dental procedures or surgery. Treatment typically involves the use of clotting factor concentrates to replace the missing factor XI.

What are the symptoms of Congenital factor XI deficiency?

Symptoms of Congenital factor XI deficiency can vary from person to person, but may include:

-Easy bruising
-Frequent nosebleeds
-Heavy menstrual bleeding
-Prolonged bleeding after surgery or injury
-Excessive bleeding after dental procedures
-Blood in the urine or stool
-Joint Pain or swelling due to bleeding into the joint space
-Fatigue
-Paleness

What are the causes of Congenital factor XI deficiency?

Congenital factor XI deficiency is caused by mutations in the F11 gene, which provides instructions for making a protein called coagulation factor XI. These mutations lead to a decrease in the amount of factor XI in the blood, which can cause excessive bleeding.

What are the treatments for Congenital factor XI deficiency?

1. Desmopressin (DDAVP): Desmopressin is a synthetic hormone that stimulates the release of factor XI from the liver. It is given as an injection or nasal spray and can be used to treat bleeding episodes.

2. Tranexamic acid: Tranexamic acid is an antifibrinolytic drug that helps to reduce bleeding by blocking the breakdown of blood clots. It is given as an injection or tablet and can be used to treat bleeding episodes.

3. Prothrombin complex concentrate (PCC): PCC is a blood product that contains several clotting factors, including factor XI. It is given as an injection and can be used to treat bleeding episodes.

4. Fresh frozen plasma (FFP): FFP is a blood product that contains all of the clotting factors

What are the risk factors for Congenital factor XI deficiency?

1. Family history of the disorder
2. Being of Ashkenazi Jewish descent
3. Having a parent who is a carrier of the disorder
4. Having a parent with the disorder
5. Having a sibling with the disorder
6. Having a history of recurrent miscarriages or stillbirths
7. Having a history of unexplained bleeding episodes

Is there a cure/medications for Congenital factor XI deficiency?

Yes, there is a cure for Congenital Factor XI Deficiency. The most common treatment is replacement therapy, which involves infusions of a clotting factor concentrate. This concentrate is made from donated human plasma and contains the missing clotting factor. Other medications, such as anticoagulants, may also be prescribed to help prevent blood clots.