What is pediatric factor XIII (FXIII) deficiency?

Updated: Mar 15, 2019
  • Author: Helge Dirk Hartung, MD; Chief Editor: Cameron K Tebbi, MD  more...
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Answer

Congenital factor XIII (FXIII) deficiency, originally recognized by Duckert in 1960, is a rare autosomal recessive disease usually associated with a severe bleeding diathesis. Although acquired factor XIII deficiency has been described in association with chronic conditions such as hepatic failure, inflammatory bowel disease, and myeloid leukemia, the only significant cause for bleeding in children is an inherited deficiency.

Factor XIII is a plasma transglutaminase that catalyzes the final step in the coagulation cascade, cross-linking the loose fibrin polymer into a highly organized structure. In addition, factor XIII covalently binds fibronectin, a2 -plasmin inhibitor, and collagen to the fibrin plug; this enhances adherence to the wound site, resistance to fibrinolysis, and wound healing by providing a scaffold for fibroblast migration and proliferation. Fibrin-fibronectin cross-linking is necessary to support the formation of the cytotrophoblastic shell at the site of placental implantation, which accounts for the role of factor XIII in the maintenance of pregnancy.


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