Protein C deficiency in two Austrian families.
Protein C antigen was determined by Laurell rocket immunoelectrophoresis in 225 patients with a history of venous thrombosis. Among these patients two females with protein C deficiency were detected. Additional studies in the families of the protein C deficient patients revealed further 7 family members with protein C deficiency. In 8 not anticoagulated patients with protein C deficiency the protein C ranged from 36 to 62% (median: 45%). In one patient on oral anticoagulant treatment protein C antigen concentration was less than 10%, F II and FX were 65 and 50%, respectively. The pattern of inheritance was consistent with autosomal dominant inheritance. 5 of the 9 protein C deficient patients had severe thrombotic tendency characterized by recurrent deep venous thrombosis (n = 4), pulmonary embolism (n = 1), probable mesenteric vein thrombosis (n = 1) and superficial thrombophlebitis (n = 2). All protein C deficient patients without thrombosis were less than 17 years old.
D000328:Adult; D000368:Aged; D001317:Austria; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007122:Immunoelectrophoresis; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011655:Pulmonary Embolism / Q000235:genetics*; D013924:Thrombophlebitis / Q000235:genetics*