About Factor XII Deficiency

What is Factor XII Deficiency?

Factor XII Deficiency is a rare inherited disorder in which the body does not produce enough of a protein called factor XII. This protein is important for the normal clotting of blood. People with this disorder may experience excessive bleeding after minor injuries or surgery. Treatment typically involves the use of medications to help control bleeding.

What are the symptoms of Factor XII Deficiency?

Symptoms of Factor XII Deficiency can vary from person to person, but may include:

-Frequent nosebleeds
-Easy bruising
-Excessive bleeding from cuts or minor injuries
-Prolonged bleeding after surgery or dental procedures
-Heavy menstrual bleeding
-Blood in the urine or stool
-Joint Pain or swelling due to bleeding into the joint space
-Fatigue
-Shortness of breath
-Paleness

What are the causes of Factor XII Deficiency?

Factor XII Deficiency is an inherited disorder caused by mutations in the F12 gene. These mutations can be passed down from either parent, and can be either inherited in an autosomal dominant or autosomal recessive pattern. In some cases, the cause of Factor XII Deficiency is unknown.

What are the treatments for Factor XII Deficiency?

The main treatment for Factor XII Deficiency is to avoid situations that may trigger a bleeding episode. This includes avoiding contact sports, taking precautions when engaging in activities that may cause injury, and avoiding certain medications that may increase the risk of bleeding.

In cases where bleeding episodes occur, treatment may include the use of fresh frozen plasma (FFP) or recombinant factor VIIa (rFVIIa). FFP is a blood product that contains all of the clotting factors, including Factor XII, and can be used to replace the missing clotting factor. rFVIIa is a synthetic form of Factor VIIa that can be used to stimulate the clotting cascade and help stop bleeding. In some cases, desmopressin (DDAVP) may also be used to increase the levels of Factor XII in the blood.

What are the risk factors for Factor XII Deficiency?

1. Family history of Factor XII Deficiency
2. Genetic mutations
3. Certain autoimmune diseases
4. Certain medications
5. Liver disease
6. Kidney disease
7. Malnutrition
8. Age (older adults are more likely to have Factor XII Deficiency)

Is there a cure/medications for Factor XII Deficiency?

There is no cure for Factor XII Deficiency, but medications can be used to reduce the risk of bleeding. These medications include antifibrinolytic agents, such as tranexamic acid, and antithrombotic agents, such as aspirin. In some cases, a blood transfusion may be necessary.