Factor XIII deficiency

Abstract

Summary. Inherited factor XIII (FXIII) deficiency is a rare bleeding disorder that can present with umbilical bleeding during the neonatal period, delayed soft tissue bruising, mucosal bleeding and life-threatening intracranial haemorrhage. FXIII deficiency has also been associated with poor wound healing and recurrent miscarriages. FXIII plays an integral role in haemostasis by catalysing the crosslinking of fibrin, platelet membrane and matrix proteins throughout thrombus formation, thus stabilizing the blood clot. The molecular basis of FXIII deficiency is characterized by a high degree of heterogeneity, which contributes to the different clinical manifestations of the disease. There have been more than 60 FXIII mutations identified in the current literature. In addition, single nucleotide polymorphisms have been described, some of which have been shown to affect FXIII activity, contributing further to the heterogeneity in patient presentation and severity of clinical symptoms. Although there is a lifelong risk of bleeding, the prognosis is excellent when current prophylactic treatment is available using cryoprecipitate or plasma-derived FXIII concentrate.

A distinct effect of transient and sustained upregulation of cellular factor XIII in the goldfish retina and optic nerve on optic nerve regeneration

“…At present, we are not sure what molecules are substrates of cFXIII for the neurite outgrowth or elongation. Fibronectin, collagen, myosin, vinculin and filamin are estimated as putative substrates (Ariëns et al, 2002;Hsieh et al, 2008). These substrates may also play an important role in mediating the cross-linking action of cFXIII in optic nerve regeneration.…”

Clotting Factor XIII and desmopressin improve hemostasis in uncontrolled bleeding

“…Factor XIII activity should be increased to 20 to 30% to prevent surgical bleeding and poor wound healing, and an activity level of less than 50% adequately responds to treatment with FXIII concentrate 8,11 .…”

“…A purified concentrate of FXIII has been marketed in Europe for more than 20 years. Replacement therapy with that concentrate is a widely accepted treatment for acquired and congenital deficiency of FXIII, as well as, supportive therapy in cases of poor wound healing 8,11,14 . Similarly, desmopressin acetate…”

“…Coagulation factor XIII is a protransglutaminase that was initially called fibrin stabilizing factor, and labeled factor XIII 20 years after its discovery 8,9 . Even though, FXIII was originally described for its role on fibrin cross-linkage and clot stabilization, additional important hemostatic functions have been attributed to this protein [10][11][12][13] .…”

Women leaders in hematology: Inspirations & insights

“…And it has an impact on long-term maternal health, fetal and neonatal health, and is really rich and fascinating, particularly in the area of platelets [34,35] and factor XIII [36]. So that's where my interest in hemostasis has come from over the years.…”