title: Congenital protein C deficiency and venous thromboembolism. A study of three Dutch families.
abstract: Protein C is the zymogen of a vitamin K-dependent serine protease involved in blood coagulation. In the absence of protein C the inactivation of activated factors V and VIIIC is impaired, and the fibrinolytic capacity of the circulating blood is reduced. These conditions promote excessive fibrin formation and thus constitute a risk factor for thrombosis. Using an immunologic assay for protein C, we identified 18 patients (11 male and 7 female) in three unrelated Dutch families as fulfilling the criteria for an isolated protein C deficiency. In 12 patients who were not receiving oral anticoagulant treatment the mean protein C antigen concentration was 0.48 +/- 0.09 U per milliliter (+/- S.D.), and in 6 patients who were receiving adjusted doses of oral anticoagulants and had stable anticoagulation, the mean value was 0.17 +/- 0.05 U per milliliter. (The value in healthy subjects is 0.98 +/- 0.19 U per milliliter.) Fourteen of the 18 patients had a history of venous thromboembolism, with superficial thrombophlebitis as the hallmark of this condition (in 13 patients). These data are consistent with an autosomal dominant trait with variable expressivity.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001778:Blood Coagulation Disorders; D001780:Blood Coagulation Tests; D005260:Female; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D010375:Pedigree; D011486:Protein C; D012306:Risk; D013923:Thromboembolism / Q000097:blood / Q000209:etiology / Q000235:genetics*; D013924:Thrombophlebitis / Q000097:blood / Q000209:etiology / Q000235:genetics*
chemical_list: D006023:Glycoproteins; D011486:Protein C