Deficiency of protein-C inhibitor in combined factor-V-VIII deficiency disease

Academic Article
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publication date

  • 1980

abstract

  • Activated protein C is an anticoagulant plasma protease enzyme that inactivates Factors V and VIII in plasma. Normal plasma contains a protein that inhibits activated protein C and that is distinct from previously described plasma protease inhibitors. Protein C inhibitory activity is not detectable in plasmas from four unrelated patients with combined Factor V/VIII deficiency but is present in normal amounts in plasmas from patients with simple factor V deficiency or Factor VIII deficiency. It is suggested that the molecular basis for combined Factor V/VIII deficiency that exhibits simple autosomal recessive inheritance is a deficiency of protein C inhibitor.