Protein C deficiency in two Austrian families.

Abstract

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.

• Authors: I Pabinger-Fasching, R M Bertina, K Lechner, H Niessner, C Korninger
• Journal: Thrombosis and haemostasis (Thromb Haemost) Vol. 50 Issue 4 Pg. 810-3 (Dec 30 1983) ISSN: 0340-6245 [Print] Germany
• PMID: 6665761 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adult
• Aged
• Austria
• Female
• Genes, Dominant
• Humans
• Immunoelectrophoresis
• Male
• Middle Aged
• Pedigree
• Pulmonary Embolism (genetics)
• Thrombophlebitis (genetics)