Congenital Factor XIII Deficiency (FXIII)
Factor XIII is the protein responsible for stabilizing the formation of a blood clot. In the absence of Factor XIII, a clot will still develop but it will remain unstable. When someone has a deficiency of Factor XIII, the tenuously formed clot will eventually break down and cause recurrent bleeds. The prolonged bleeding with Factor XIII patients is usually associated with trauma.
Factor XIII condition is perhaps the rarest of all factor deficiencies. The incidence of Factor XIII Deficiency is estimated at one in five million births. It is inherited in an autosomal recessive fashion, which means it affects men and women equally. No racial or ethnic group is disproportionately affected.
Common symptoms include soft tissue bleeds, menorrhagia, joint bleeding, and persistent bleeding during circumcision or at the site of the umbilical cord.
Diagnosis is made by normal coagulation screening tests and a detailed family history. Specific Factor XIII assays can confirm the diagnosis. The condition can also be defined by a clot solubility test.
- Soft tissue bruising
- Mucosal bleeding
- Intracranial bleeding
- Newborns may have umbilical cord bleeding
Mean Corpuscular Volume Test measures the average red blood cell volume. But people receiving these symptoms above should consult their physician immediately!
The following therapy is FDA-approved for the treatment of FXIII.
