HEREDITARY DEFICIENCY OF FACTOR XIII – LACKY-LORANDE FACTOR
Keywords:
Rare blood coagulation disorder, factor XIII deficiency, factor XIII concentrate, cephalohematoma, hemarthrosis.Abstract
Congenital factor XIII (FXIII) deficiency is a rare bleeding disorder characterized by muscle or mucocutaneous bleeding with life-threatening intracranial hemorrhage (ICH), especially in severe cases. Although FXIII deficiency is rare, it is characterized by varying bleeding manifestations depending on the magnitude of the deficiency. Congenital FXIII deficiency with a level of less than 1% can be found in children with prolonged bleeding from the umbilical cord stump, as well as with prolonged bleeding after trauma. Factor XIII (FXIII) is activated by thrombin to produce transglutaminase (FXIIIa), which stabilizes clot formation by cross-linking fibrin monomers and antifibrinolytic proteins. The molecular basis of FXIII deficiency is characterized by a high degree of heterogeneity, which results in variable clinical manifestations of the disease. More than 60 FXIII mutations have been identified in the current literature.
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