Dysfunctional protein C deficiency (type II). A report of 11 cases in 3 American families and review of the literature. Am J Clin Pathol 1993 Jun;99(6):677-86
Date
06/01/1993Pubmed ID
8322701DOI
10.1093/ajcp/99.6.677Scopus ID
2-s2.0-0027180747 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
A cause of recurrent venous thrombosis is discernible in about 30% of symptomatic patients. Type I protein C (PC) deficiency (concomitant decrease of activity and antigen) is a well-described cause of venous thrombosis. Dysfunctional PC or type II PC deficiency (a disproportionate decrease in activity compared with antigen), however, is less well understood. Eleven subjects from three American families had dysfunctional PC. The patient base was moderately sized. These 11 subjects are compared with the 67 patients (39 symptomatic and 28 asymptomatic) that have been reported with dysfunctional PC at this time. Dysfunctional protein C deficiency is a more common cause of venous thrombosis than previously was recognized. Protein C activity should be determined in evaluating a patient with recurrent venous thromboses or thrombosis in early adult life. If the PC activity is low, repeat PC activity and a PC antigen levels should be determined so that patients with Type II PC deficiency will be identified. Further testing must include family studies to rule out an acquired deficiency and confirm the hereditary basis of the Type II PC deficiency.
Author List
Berdeaux DH, Abshire TC, Marlar RAMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Child, Preschool
Female
Humans
Male
Middle Aged
Pedigree
Protein C
Protein C Deficiency
Thrombosis
