Protein C Deficiency in Two Austrian Families

Abstract

SummaryProtein C antigen was determined by Laurell rocket immunelectrophoresis 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 < 10%, FII and F X 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.

Hereditary Protein C Deficiency

“…Most reports on hereditary protein C defi ciency refer to families with a type I protein C deficiency, which inherits as an autosomaldominant trait [3][4][5][6], The majority of the patients are heterozygous for the defect. However, in contrast to the findings with hereditary antithrombin III deficiency, also homozygous protein C-deficient patients have been reported [5,[16][17][18][19][20], In most cases it concerned children from consanguineous marriages with both parents being heterozy gous for protein C deficiency.…”

“…The majority of patients with a hereditary protein C deficiency presented with throm botic disease [1,3,4,6]. In the Netherlands, 77% of the patients with a type I protein C deficiency have a history of venous throm botic disease (table IV), often with recur rences (in 70% of the patients with throm botic disease).…”

Protein C and S Deficiency, Thrombophilia, and Hypofibrinolysis: Pathophysiologic Causes of Legg-Perthes Disease

“…Even among patients with venous thromboembolic disease, low protein C levels ranging from 35 to 65% of the normal mean (presumed heterozygous protein C deficiency) are uncommon, being found in eight of 319 (I of 40) (13) and two of 225 (I of 113) (15) cases.…”

“…Hence , heritable, primary protein C, S, and antithrombin III deficiencies (12)(13)(14)(15)(16)(17) are rare, and familial hypofibrinolysis resulting from high PAl is rare (10, II).…”

Heterozygous Protein-S Deficiency: A Study of a Large Kindred

“…For this reason, a diagnosis of protein-S de ficiency cannot be made only on the basis of the clini cal features, since they are not pathognomonic. On the other hand, a laboratory diagnosis of protein-S deficiency is not always possible, since we can expect some heterozygous patients to have a level of pro tein-S antigen in the lower part of the normal range, as found for protein-C deficiency [24],…”