Der Faktor XIII des Menschen: eine Übersicht

Zusammenfassung

Der durch Kalziumionen und Thrombin aktivierte Faktor XIII (FXIIIa) vernetzt Fibrin und erhöht dadurch die Stabilität des Fibringerinnsels. Durch Vernetzung weiterer Proteine wie α₂-Plasmininhibitor, Fibronektin und Kollagen erfüllt FXIIIa hämostatische und reparative Funktionen. Der Val34Leu-Polymorphismus ist für die Athero- und Thrombogenese von Bedeutung. FXIII-Mangel wird autosomal rezessiv vererbt. Das Kardinalsymptom ist die prolongierte Blutung aus der Nabelschnur in den ersten Tagen nach der Geburt. Die Verdachtsdiagnose wird durch die Löslichkeitsprobe in Harnstoff (5 mol/l) bestätigt und mit einem Inkorporationstest oder immunelektrophoretisch weiter differenziert. Die Blutungsneigung beginnt typischerweise bei Aktivitäten >1-2% des Referenzwerts. Gerade bei Heterozygoten treten aber auch schwere Blutungen bei Aktivitäten um 30-50% auf. Die zum Teil lebensbedrohliche Blutungstendenz lässt sich mit Faktor-XIII-Konzentraten behandeln. Erworbener FXIII-Mangel kann bei verschiedenen internistischen Erkrankungen und nach Operation auftreten. Die klinische Relevanz ist noch nicht vollständig geklärt. Als Bestandteil von Fibrinkleber wird der Faktor XIII auch lokal angewandt.

Summary

Activated by calcium and thrombin, factor XIII (FXIIIa) cross-links fibrin, thus increasing the stability of the fibrin clot. Furthermore, the hemostatic and reparative function of factor XIIIa is mediated by cross-linking other proteins like α₂-plasmin-inhibitor, fibronectin, and collagen. The FXIII Val34Leu polymorphism plays a role in athero- and thrombogenesis. FXIII deficiency is an autosomal recessive disorder. The most common symptom is the bleeding tendency of the umbilical cord some days after birth. The diagnosis is confirmed by a solubility clot test in urea (5 mol/l) and then differentiated with an incorporation assay and immunoelectrophoresis. The bleeding tendency typically becomes obvious when FXIIIa activity is <1-2%. Severe bleeding episodes, however, may even occur with FXIIIa activities of 30-50%, especially in heterozygous persons. The sometimes life-threatening bleeding tendency of the inherited FXIII deficiency can be treated with FXIII concentrates. Acquired FXIII deficiency occurs in several internal diseases and after major surgery. The clinical significance is not completely clear. Moreover, FXIII is applied locally as a component of fibrin glues.

Schlüsselwörter

Faktor XIII - Transglutaminase - Val34Leu-Polymorphismus

Keywords

Factor XIII - transglutaminase - Val34Leu polymorphism

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