About Congenital factor XII deficiency

What is Congenital factor XII deficiency?

Congenital factor XII deficiency is a rare inherited disorder in which the body does not produce enough of the clotting factor XII, also known as Hageman factor. This deficiency can lead to an increased risk of bleeding and bruising. People with this disorder may experience prolonged bleeding after surgery, dental procedures, or trauma. Treatment typically involves the use of clotting factor concentrates to replace the missing factor XII.

What are the symptoms of Congenital factor XII deficiency?

The symptoms of Congenital factor XII deficiency vary from person to person. Common symptoms include:

-Easy bruising
-Frequent nosebleeds
-Excessive bleeding after surgery or injury
-Prolonged bleeding after tooth extraction
-Heavy menstrual bleeding
-Blood in the urine or stool
-Joint pain
-Fatigue
-Weakness

What are the causes of Congenital factor XII deficiency?

Congenital factor XII deficiency is caused by mutations in the F12 gene, which provides instructions for making the factor XII protein. These mutations can be inherited from a person's parents or can occur spontaneously.

What are the treatments for Congenital factor XII deficiency?

The main treatment for Congenital factor XII deficiency is to avoid activities that may cause bleeding, such as contact sports or activities that involve a risk of injury. Other treatments may include:

1. Desmopressin (DDAVP): This is a synthetic hormone that can be used to increase the levels of factor XII in the blood.

2. Blood transfusions: This is a procedure in which blood is taken from a donor and given to the patient. This can help to increase the levels of factor XII in the blood.

3. Antifibrinolytic drugs: These drugs can be used to reduce the risk of bleeding by preventing the breakdown of blood clots.

4. Vitamin K: This vitamin can be used to help the body produce more factor XII.

5. Surgery: In some cases, surgery

What are the risk factors for Congenital factor XII deficiency?

1. Family history of factor XII deficiency
2. Genetic mutations
3. Certain ethnic backgrounds, such as Ashkenazi Jews
4. Exposure to certain medications, such as heparin
5. Exposure to certain toxins, such as lead or mercury

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

There is no cure for Congenital Factor XII deficiency, but medications can be used to reduce the risk of bleeding. These medications include antifibrinolytic agents such as tranexamic acid, aminocaproic acid, and epsilon aminocaproic acid. These medications work by preventing the breakdown of blood clots, which can help reduce the risk of bleeding. Additionally, vitamin K can be used to help increase the levels of Factor XII in the blood.