Coagulation factor V gene mutation associated with activated protein C resistance leading to recurrent thrombosis, leg ulcers, and lymphedema: Successful treatment with intermittent compression

Journal of the American Academy of Dermatology

Volumn 35, Issue 2 II, 1996, Pages 306-309

  Peus, Dominik ^a,b   Schmiedeberg, Sherko V ^a   Pier, Andreas ^a   Scharf, Rüdiger E ^a   Wehmeier, Artur ^a   Ruzicka, Thomas ^a   Krutmann, Jean ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; PROTEIN S;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DEBRIDEMENT; DEEP VEIN THROMBOSIS; GENE MUTATION; HUMAN; HYPERCOAGULABILITY; LEG COMPRESSION; LEG ULCER; LYMPHEDEMA; MALE; PRIORITY JOURNAL; TREATMENT OUTCOME;

EID: 0030037340     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0190-9622(96)90655-6     Document Type: Article

References (37)

1. Coon WW. Venous thromboembolism. Prevalence, risk factors, and prevention. Clin Chest Med 1984;5:391-401.
2. Schafer AI. The hypercoagulable states. Ann Intern Med 1985;102:814-28.
3. Egeberg O. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diathes Haemorrh 1965;13:516-30.
4. Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981;68:1370-3.
5. Schwarz HP, Fischer M, Hopmeier P, et al. Plasma protein S deficiency in familial thrombotic disease. Blood 1984;64: 1297-1300.
6. Bithell TC. Hereditary dysfibrinogenemia. Clin Chem 1985;31:509-16.
7. Aoki N, Moroi M, Sakata Y, et al. Abnormal plasminogen: a hereditary molecular abnormality found in a patient with recurrent thrombosis. J Clin Invest 1978;61:1186-95.
8. Allaart CF, Briet E. Familial venous thrombophilia. In: Bloom AL, Forbes CD, Thomas DP, et al. editors. Haemostasis and thrombosis. Edinburgh: Churchill Livingstone, 1994:1349-60.
9. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A. 1993;90:1004-8.
10. Dahlbback B, Stenflo J. The protein C anticoagulant system. In: Stamatoyannopoulos G, Nienhuis AW, Majerus PW, et al. editors. The molecular basis of blood diseases. Philadelphia: WB Saunders, 1994:599-628.
11. Walker FJ. Regulation of activated protein C by a new protein: a possible function for bovine protein S. J Biol Chem 1980;255:5521-4.
12. Esmon CT. The roles of protein C and thrombomodulin in the regulation of blood coagulation. J Biol Chem 1989; 264:4743-6.
13. Esmon CT. Protein-C: biochemistry, physiology, and clinical implications. Blood 1983;62:1155-8.
14. van Hinsbergh VW, Bertina RM, van Wijngaarden A, et al. Activated protein C decreases plasminogen activator-inhibitor activity in endothelial cell-conditioned medium. Blood 1985;65:444-51.
15. Dahlbäck B, Stenflo J. The protein C anticoagulant system. In Stamatoyannopoulos G, Nienhuis AW, Majerus PW, et al. editors. The molecular basis of blood diseases. Philadelphia: WB Saunders, 1994:599-628.
16. Hillarp A, Dahlbäck B. Novel subunit in C4b-binding protein required for protein S binding. J Biol Chem 1988;263: 12759-64.
17. Dahlbäck B. Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein. J Biol Chem 1986;261:12022-7.
18. Comp PC, Nixon PR, Cooper MR, et al. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984;74:2082-8.
19. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-7.
20. Thomas DP. Pathogenesis of venous thrombosis. In: Bloom AL, Forbes CD, Thomas DP, et al. editors. Haemostasis and thrombosis. Edinburgh: Churchill Livingstone, 1994:1335-47.
21. Coffman JD. Cutaneous changes in peripheral vascular disease. In: Fitzpatrick TB, Eisen AZ, Wolff K, et al. editors. Dermatology in general medicine. New York: McGraw-Hill, 1993:2077-104.
22. McGhee WG, Klotz TA, Epstein DJ, et al. Coumarin skin necrosis associated with hereditary protein C deficiency. Ann Intern Med 1984;100:59-60.
23. Perkins W, Downie I, Keefe M, et al. Cutaneous necrosis in pregnancy secondary to activated protein C resistance in hereditary angioedema. J R Soc Med 1995;88: 229P-30P.
24. Tabernero MD, Tomas JF, Alberca I, et al. Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis. Am J Hematol 1991;36:249-54.
25. Miletich JP, Prescott SM, White R, et al. Inherited predisposition to thrombosis. Cell 1993;72:477-80.
26. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330:517-22.
27. Koster T, Rosendaal FR, de Ronde H, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet 1993;342: 1503-6.
28. Hellgren M, Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thromboembolism associated with pregnancy and oral contraceptives. Am J Obstet Gynecol 1995;173:210-3.
29. D'Angelo SV, Mazzola G, Della Valle P, et al. Variable interference of activated protein C resistance in the measurement of protein S activity by commercial assays. 1994;77:375-8.
30. Faioni EM, Franchi F, Asti D, et al. Resistance to activated protein C in nine thrombophilic families: interference in a protein S functional assay. Thromb Haemost 1993;70:1067-71.
31. Cooper PC, Hampton KK, Makris M, et al. Further evidence that activated protein C resistance can be misdiagnosed as inherited functional protein S deficiency. 1994;88:201-3.
32. Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. Lancet 1994;343:1535-6.
33. Greengard JS, Sun X, Xu X, et al. Activated protein C resistance caused by Arg506G1n mutation in factor Va. Lancet 1994;343:1361-2.
34. Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994;343:1536-8.
35. Sun X, Evatt B, Griffin JH. Blood coagulation factor. Va abnormality associated with resistance to activated protein C in venous thrombophilia. Blood 1994;83:3120-5.
36. Dahlbäck B. Inherited thrombophilia: resistance to activated protein C as a pathogenic factor of venous thromboembolism. Blood 1995;85:607-14.
37. Rosendaal FR, Koster T, Vandenbroucke JP, et al. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995;85: 1504-8.