Factor XIII (FXIII), α 2 -antiplasmin (α 2 -AP), and plasminogen activator inhibitor type 1 (PAI-1) deficiencies are all very rare bleeding disorders. These proteins play a critical role in stabilizing a fibrin clot (FXIII) and regulating fibrinolysis through the…
Congenital fibrinogen disorders include a spectrum of defects that fall into two categories: quantitative (type I) and qualitative (type II) fibrinogen disorders. Quantitative (type I) disorders include the absence of fibrinogen (afibrinogenemia) or low fibrinogen activity and antigen levels typically…
Introduction Inherited deficiencies of factors II, V, and X (FII, FV, and FX) are rare (estimated frequencies are FII, 1 in 2,000,000; FV, 1 in 1,000,000; and FX, 1 in 1,000,000). Patients who are homozygous or compound heterozygous for defects…
Factor VII (FVII) deficiency is the most common autosomal recessive rare bleeding disorder. It was first described in 1951 and has an estimated prevalence of 1 in 500,000. The manifestation of bleeding symptoms in FVII deficiency is clinically heterogeneous. Some…