Current understanding in diagnosis and management of factor XIII deficiency

Abstract

Factor XIII or "fibrin-stabilizing factor," is a transglutaminase circulates in the blood circulation as a hetero tetramer with two catalytic A subunits and two carrier B subunits. This important coagulation factor has a crucial role in clotting cascade and produces strong covalent bonds between soluble formed fibrin monomers during coagulation. This stable cross linked fibrin strands are resistanttodegradationby thefibrinolyticsystem that enablesthe bodyto stoppotential bleeding episodes. In the absence or severe decrease of factor XIII, although the clot is formed, but is rapidly degraded by the fibrinolytic system, and delayed bleedingoccurs.Factor XIII deficiency is an extremely rare bleeding disorder with estimated incidence of 1/2-3000, 000 in the general population. Presumptive diagnosis of factor XIII deficiency was by clot solubility test in 5M urea or 1% monochloroacetic acid environments. In patients with abnormal screening clot solubility test, the disease can be confirmedbymore specifictestssuch as quantitative factor XIII activity assay andFXIIIAgassay.After diagnosis of disease all patients with severe factor XIII deficiency(<1 U/dl) shouldreceive prophylactic substitution therapywith fresh frozen plasma (FFP) and cryoprecipitate as traditional choices or purified concentrateof blood coagulation factor XIII (Fibrogammin P) inorder to control severe and life-threatening clinical complications of factor XIII deficiency.

Figure 1

The most frequent mutations of factor XIII (According to http://www.f13- database.de).