Deficiency of protein C in congenital thrombotic disease.

TLDR

Activated protein C is a potent anticoagulant and profibrinolytic agent, suggesting that recurrent thrombosis in this family may stem from inherited protein C deficiency. The study examined whether a plasma protein deficiency could explain the family's recurrent thrombosis. Protein C levels were measured immunologically with the Laurell rocket technique. The affected family members had 38‑49% of normal protein C antigen levels, while unaffected members had normal levels, and no deficiency of antithrombin III or plasminogen was found.

Abstract

A family with a history of recurring thrombosis was studied to determine if a plasma protein deficiency could account for the observed disease. Protein C levels in plasma were determined immunologically using the Laurell rocket technique. The propositus, his father, and his paternal uncle, who are severely affected, had 38-49% of normal levels of protein C antigen, whereas unaffected family members had normal levels. There was no familial deficiency of antithrombin III and plasminogen. Because activated protein C is a potent in vitro anticoagulant enzyme and an in vivo profibrinolytic agent, it is suggested that the recurrent thrombotic disease in this family is due to an inherited deficiency in protein C.