What is it?

(Can also be known as Fibrin Stabilizing Factor deficiency)

 

This 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.

 

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 that is associated with Factor XIII is usually associated with trauma. Among severe patients there is a high risk of head bleeds with or without trauma. Bleeding immediately after surgery is usually not excessive, but can be delayed. Women who go untreated risk spontaneous abortion. Men with the deficiency may show signs of infertility. Common characteristics 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.

 

Treatment

There are currently two commercially-produced factor XIII concentrates produced in Europe. One is manufactured by Bio Products Laboratory (BPL) and is only available in the United Kingdom. The other product is called Fibrogammin-P, produced by Beringwerke of Germany. It is only available under IND or through clinical trial in the United States. Neither of these products is FDA approved for use in the United States. For the time being, cryoprecipitate or fresh-frozen plasma is used to treat factor XIII deficiency.

 

–Information by the National Hemophilia Foundation