Congenital factor XIII deficiency is a rare inherited disorder in which the body does not produce enough of the clotting factor XIII, also known as fibrin stabilizing factor. This deficiency can lead to excessive bleeding and can be life-threatening. Symptoms may include prolonged bleeding from cuts, nosebleeds, and heavy menstrual bleeding. Treatment typically involves replacement therapy with factor XIII concentrate.

The symptoms of Congenital factor XIII deficiency vary from person to person, but may include:

-Excessive bleeding after surgery, trauma, or childbirth
-Easy bruising
-Nosebleeds
-Heavy menstrual bleeding
-Gastrointestinal bleeding
-Brain hemorrhage
-Joint bleeding
-Retinal hemorrhage
-Delayed wound healing
-Anemia
-Skin hematomas

Congenital factor XIII deficiency is caused by mutations in the F13A1 gene, which provides instructions for making the factor XIII A subunit protein. This protein is essential for the proper functioning of factor XIII, a blood-clotting protein. Mutations in the F13A1 gene reduce or eliminate the production of the factor XIII A subunit protein, leading to a deficiency of factor XIII and an increased risk of bleeding.

The main treatment for Congenital factor XIII deficiency is replacement therapy. This involves regular infusions of a clotting factor concentrate, which is a product made from donated human plasma. Other treatments may include antifibrinolytic drugs, such as tranexamic acid, to help reduce bleeding episodes. In some cases, surgery may be necessary to stop bleeding.

1. Family history of the disorder
2. Maternal age over 35
3. Maternal history of recurrent miscarriages
4. Maternal history of thrombosis
5. Maternal history of pre-eclampsia
6. Maternal history of diabetes
7. Maternal history of autoimmune disorders
8. Maternal history of drug use
9. Maternal history of alcohol use
10. Maternal history of smoking

Yes, there is a treatment for Congenital Factor XIII deficiency. The treatment involves replacing the missing Factor XIII with a concentrate of Factor XIII derived from human plasma. This is done through a process called plasma exchange, which involves removing the patient's plasma and replacing it with Factor XIII concentrate. In some cases, medications such as antifibrinolytics may also be used to help prevent bleeding episodes.