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Genetic and Rare Diseases Information Center (GARD)

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Factor XIII deficiency


Other Names for this Disease
  • Congenital Factor XIII deficiency
  • Fibrin stabilizing factor deficiency
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Overview



What is factor XIII deficiency?

What are the signs and symptoms of factor XIII deficiency?

How might factor XIII be treated?


What is factor XIII deficiency?

Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain.[1] FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.[2]
Last updated: 8/16/2011

What are the signs and symptoms of factor XIII deficiency?

Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, large cysts may form in the surrounding tissue that may destroy bone and cause peripheral nerve damage, usually in the thigh and buttocks areas. At birth, an infant with Factor XIII deficiency may bleed from the umbilical cord, which rarely occurs in other blood clotting disorders.[1]

The most serious hemorrhaging that can occur in Factor XIII deficiency is in the central nervous system (i.e., brain and spinal cord) following mild head trauma. This can occur in about 25 percent of affected individuals. In some cases, hemorrhaging may stop spontaneously without treatment.[1]

Females with Factor XIII deficiency who become pregnant are at high risk for miscarriage if they do not receive appropriate treatment. Men with this disorder may be sterile or have extremely low sperm counts. Replacing Factor XIII in these men does not correct sterility. Some of the less frequently seen symptoms are poor wound healing, excessive bleeding from wounds, blood blisters attached to the abdominal wall (retroperitoneal hematomas), and/or blood in the urine (hematuria).[1]

Some symptoms are seldom or never seen in people with Factor XIII deficiency, which may help to distinguish it from other bleeding disorders. These may include excessive blood loss during menstruation, hemorrhages within the eye, gastrointestinal bleeding, arthritis caused by an accumulation of blood in the joints, excessive bleeding after surgery, bleeding from mucous membranes, and/or tiny red spots on the skin. Factor XIII deficiency is not generally a threat to those who need surgery. The small amount of Factor XIII present in blood transfusions generally prevents bleeding. Excessive bleeding from wounds, abrasions, or even spontaneous abortions is not common unless a person with this disorder uses aspirin or similar medications.[1]
Last updated: 8/16/2011

How might factor XIII be treated?

The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary.[1]

In February 2011, the US Food and Drug Administration approved Corifact, a product manufactured by CSL Behring of Marburg, Germany, to prevent bleeding in people with congenital Factor XIII deficiency. Corifact is made from the pooled plasma of healthy donors. It can be used for individuals with absent or decreased levels of FXIII.[3] 

People receiving Corifact may develop antibodies against Factor XIII that may make the product ineffective. It potentially can cause adverse events from abnormal clotting if doses higher than the labeled dose are given to patients. Cryoprecipitate should not be used to treat patients with factor XIII deficiency except in life- and limb-threatening emergencies when Factor XIII concentrate is not immediately available.[3]
Last updated: 8/16/2011

References
  1. Factor XIII Deficiency. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/66/viewAbstract. Accessed 8/16/2011.
  2. Congenital factor XIII deficiency. Orphanet. October 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=331. Accessed 8/16/2011.
  3. Factor XIII Deficiency. National Hemophilia Foundation. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=71&contentid=58. Accessed 8/16/2011.