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Thromb Haemost 1984; 51(01): 001-005
DOI: 10.1055/s-0038-1660995
Original Article
Schattauer GmbH Stuttgart

The Use of a Functional and Immunologic Assay for Plasma Protein C in the Study of the Heterogeneity of Congenital Protein C Deficiency

R M Bertina
The Haemostasis and Thrombosis Research Unit, Department of internal Medicine, Leiden University Hospital, Leiden, The Netherlands
,
A W Broekmans
The Haemostasis and Thrombosis Research Unit, Department of internal Medicine, Leiden University Hospital, Leiden, The Netherlands
,
C Krommenhoek-van Es
The Haemostasis and Thrombosis Research Unit, Department of internal Medicine, Leiden University Hospital, Leiden, The Netherlands
,
A van Wijngaarden
The Haemostasis and Thrombosis Research Unit, Department of internal Medicine, Leiden University Hospital, Leiden, The Netherlands
› Author Affiliations
Further Information

Publication History

Received 30 August 1983

Accepted 12 October 1983

Publication Date:
19 July 2018 (online)

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Summary

Protein C is a vitamin K dependent protein involved in blood coagulation. A congenital deficiency in protein C antigen - which inherits as an autosomal dominant disorder - has been reported to be associated with a high risk for thrombo-embolic disease at relatively young age. In the present paper we report on the development of a functional assay for plasma protein C. In this assay protein C is adsorbed to Al(OH)3, eluted and activated by thrombin, after which the concentration of the activated protein C is measured with a peptide substrate (S2366). Normal values for protein C activity and protein C antigen were determined in healthy volunteers and patients on stable oral anticoagulant treatment. Protein C activity and antigen levels were compared in 28 patients from 9 different pedigrees with both congenital protein C deficiency and thrombotic disease. Two types of protein C deficiency could be recognized: in type I the deficiency is due to the absence or reduced presence of protein C molecules, while in type II the deficiency is caused by the presence of an abnormal protein C molecule with strongly reduced functional activity.

Key Words

Protein C deficiency - Protein C activity - Protein C variant - Thrombotic disease
 

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