Skip to main content
PMC home page
The Journal of Clinical Investigation logoLink to The Journal of Clinical Investigation
. 1981 Nov;68(5):1370–1373. doi: 10.1172/JCI110385

Deficiency of protein C in congenital thrombotic disease.

J H Griffin, B Evatt, T S Zimmerman, A J Kleiss, C Wideman
PMCID: PMC370934  PMID: 6895379

Abstract

A family with a history of recurring thrombosis was studied to determine if a plasma protein deficiency could account for the observed disease. Protein C levels in plasma were determined immunologically using the Laurell rocket technique. The propositus, his father, and his paternal uncle, who are severely affected, had 38-49% of normal levels of protein C antigen, whereas unaffected family members had normal levels. There was no familial deficiency of antithrombin III and plasminogen. Because activated protein C is a potent in vitro anticoagulant enzyme and an in vivo profibrinolytic agent, it is suggested that the recurrent thrombotic disease in this family is due to an inherited deficiency in protein C.

Full text

PDF
1370

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Al-Mondhiry H., Bilezikian S. B., Nossel H. L. Fibrinogen ""New York"--an abnormal fibrinogen associated with thromboembolism: functional evaluation. Blood. 1975 May;45(5):607–619. [PubMed] [Google Scholar]
  2. Aoki N., Moroi M., Sakata Y., Yoshida N., Matsuda M. Abnormal plasminogen. A hereditary molecular abnormality found in a patient with recurrent thrombosis. J Clin Invest. 1978 May;61(5):1186–1195. doi: 10.1172/JCI109034. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Beck E. A., Charache P., Jackson D. P. A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore'). Nature. 1965 Oct 9;208(5006):143–145. doi: 10.1038/208143a0. [DOI] [PubMed] [Google Scholar]
  4. Blanchard R. A., Furie B. C., Jorgensen M., Kruger S. F., Furie B. Acquired vitamin K-dependent carboxylation deficiency in liver disease. N Engl J Med. 1981 Jul 30;305(5):242–248. doi: 10.1056/NEJM198107303050502. [DOI] [PubMed] [Google Scholar]
  5. Comp P. C., Esmon C. T. Activated protein C inhibits platelet prothrombin-converting activity. Blood. 1979 Dec;54(6):1272–1281. [PubMed] [Google Scholar]
  6. Dahlbäck B., Stenflo J. Inhibitory effect of activated protein C on activation of prothrombin by platelet-bound factor Xa. Eur J Biochem. 1980 Jun;107(2):331–335. doi: 10.1111/j.1432-1033.1980.tb06033.x. [DOI] [PubMed] [Google Scholar]
  7. EGEBERG O. INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA. Thromb Diath Haemorrh. 1965 Jun 15;13:516–530. [PubMed] [Google Scholar]
  8. Egeberg O. Inherited fibrinogen abnormality causing thrombophilia. Thromb Diath Haemorrh. 1967 Feb 28;17(1-2):176–187. [PubMed] [Google Scholar]
  9. Esmon C. T., Owen W. G. Identification of an endothelial cell cofactor for thrombin-catalyzed activation of protein C. Proc Natl Acad Sci U S A. 1981 Apr;78(4):2249–2252. doi: 10.1073/pnas.78.4.2249. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Esmon C. T., Stenflo J., Suttie J. W. A new vitamin K-dependent protein. A phospholipid-binding zymogen of a serine esterase. J Biol Chem. 1976 May 25;251(10):3052–3056. [PubMed] [Google Scholar]
  11. Fair D. S., Plow E. F., Edgington T. S. Combined functional and immunochemical analysis of normal and abnormal human factor X. J Clin Invest. 1979 Oct;64(4):884–894. doi: 10.1172/JCI109554. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Kisiel W., Canfield W. M., Ericsson L. H., Davie E. W. Anticoagulant properties of bovine plasma protein C following activation by thrombin. Biochemistry. 1977 Dec 27;16(26):5824–5831. doi: 10.1021/bi00645a029. [DOI] [PubMed] [Google Scholar]
  13. Kisiel W. Human plasma protein C: isolation, characterization, and mechanism of activation by alpha-thrombin. J Clin Invest. 1979 Sep;64(3):761–769. doi: 10.1172/JCI109521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Laurell C. B. Electroimmuno assay. Scand J Clin Lab Invest Suppl. 1972;124:21–37. doi: 10.3109/00365517209102748. [DOI] [PubMed] [Google Scholar]
  15. Marciniak E., Farley C. H., DeSimone P. A. Familial thrombosis due to antithrombin 3 deficiency. Blood. 1974 Feb;43(2):219–231. [PubMed] [Google Scholar]
  16. Marlar R. A., Griffin J. H. Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease. J Clin Invest. 1980 Nov;66(5):1186–1189. doi: 10.1172/JCI109952. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Stenflo J. A new vitamin K-dependent protein. Purification from bovine plasma and preliminary characterization. J Biol Chem. 1976 Jan 25;251(2):355–363. [PubMed] [Google Scholar]
  18. Thompson A. R. Factor IX antigen by radioimmunoassay. Abnormal factor IX protein in patients on warfarin therapy and with hemophilia B. J Clin Invest. 1977 May;59(5):900–910. doi: 10.1172/JCI108712. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Vehar G. A., Davie E. W. Preparation and properties of bovine factor VIII (antihemophilic factor). Biochemistry. 1980 Feb 5;19(3):401–410. doi: 10.1021/bi00544a001. [DOI] [PubMed] [Google Scholar]
  20. Wohl R. C., Summaria L., Robbins K. C. Physiological activation of the human fibrinolytic system. Isolation and characterization of human plasminogen variants, Chicago I and Chicago II. J Biol Chem. 1979 Sep 25;254(18):9063–9069. [PubMed] [Google Scholar]

Articles from Journal of Clinical Investigation are provided here courtesy of American Society for Clinical Investigation

RESOURCES