Improved distinction of factor V wild-type and factor V leiden using a novel prothrombin-based activated protein C resistance assay

American Journal of Clinical Pathology

Volumn 122, Issue 6, 2004, Pages 836-842

  Wilmer, Marianne ^a,c   Stocker, Christoph ^a,c   Bühler, Beatrice ^a,c   Conell, Brigitte ^b   Calatzis, Andreas ^b,c  

^a Pentapharm   (Switzerland)

^b UNIVERSITY OF MUNICH   (Germany)

^c Pentapharm   (Switzerland)

Author keywords

Activated protein C resistance; Antiphospholipid antibodies; Factor V Leiden; Noscarin; Russell viper venom factor V

Indexed keywords

ANTICOAGULANT AGENT; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; FIBRINOGEN; PROTEIN S; PROTHROMBIN;

ACTIVATED PROTEIN C RESISTANCE; ARTICLE; BIOASSAY; CONCENTRATION RESPONSE; CONTROLLED STUDY; DILUTION; HETEROZYGOSITY; HUMAN; INCUBATION TIME; MAJOR CLINICAL STUDY; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SAMPLING; SCREENING TEST; THROMBOPHILIA; THROMBOPLASTIN TIME; WILD TYPE;

EID: 9644284347     PISSN: 00029173     EISSN: None     Source Type: Journal    
DOI: 10.1309/T8AVVH7QWGL0QTF5     Document Type: Article

References (25)

1. Thorelli E, Kaufman RJ, Dahlbäck B. Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V. Blood. 1999;93:2552-2558.
2. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
3. 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;90:1004-1008.
4. Greengard JS, Sun X, Xu X, et al. Activated protein C resistance caused by Arg506Gln mutation in factor Va [letter]. Lancet. 1994;343:1361-1362.
5. Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. Lancet. 1994;343:1535-1536.
6. 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;85:1504-1508.
7. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med. 1994;330:517-522.
8. Zehnder JL, Benson RC. Sensitivity and specificity of the APC resistance assay in detection of individuals with factor V Leiden. Am J Clin Pathol. 1996;106:107-111.
9. Jorquera JI, Montoro JM, Fernandez MA, et al. Modified test for activated protein C resistance [letter]. Lancet. 1994;344:1162-1163.
10. Trossaert M, Conard J, Horellou MH, et al. The modified APC resistance test in the presence of factor V deficient plasma can be used in patients without oral anticoagulant [letter]. Thromb Haemost. 1996;75:521-522.
11. Denson KW, Haddon ME, Reed SV, et al. A more discriminating test for APC resistance and a possible screening test to include protein C and protein S. Thromb Res. 1996;81:151-156.
12. Gardiner C, Cooper PC, Makris M, et al. An evaluation of screening tests for defects in the protein C pathway: commercial kits lack sensitivity and specificity. Blood Coagul Fibrinolysis. 2002;13:155-163.
13. Van Cott EM, Soderberg BL, Laposata M. Activated protein C resistance, the factor V Leiden mutation, and a laboratory testing algorithm. Arch Pathol Lab Med. 2002;126:577-582.
14. Dahlbäck B. Resistance to activated protein C, the Arg506 to Gln mutation in the factor V gene, and venous thrombosis: functional tests and DNA-based assays, pros and cons. Thromb Haemost. 1995;73:739-742.
15. Voelkerding KV, Wu L, Williams EC, et al. Factor V R506Q gene mutation analysis by PCR-RFLP: optimization, comparison with functional testing for resistance to activated protein C, and establishment of cell line controls. Am J Clin Pathol. 1996;106:100-106.
16. Marsh NA. Use of snake venom fractions in the coagulation laboratory. Blood Coagul Fibrinolysis. 1998;9:395-404.
17. Tans G, Govers-Riemslag JW, van Rijn JL, et al. Purification and properties of a prothrombin activator from the venom of Notechis scutatus scutatus. J Biol Chem. 1985;260:9366-9372.
18. Stocker K, Gempeler-Messina P, Müller C, inventors; Pentapharm AG, assignee. Method for the functional detection of disorders in the protein C system. US patent 642619. July 30, 2002.
19. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med. 2001;344:1222-1231.
20. Quenhenberger P, Handler S, Mannhalter C, et al. Evaluation of a highly specific functional test for the detection of factor V Leiden. Int J Clin Lab Res. 2000;30:113-117.
21. Galli M, Duca F, Ruggeri L. Congenital resistance to activated protein C in patients with lupus anticoagulants: evaluation of two functional assays. Thromb Haemost. 1998;80:246-249.
22. Tripodi A, Valsecchi C, Chantarangkul V, et al. Standardization of activated protein C resistance testing: effect of residual platelets in frozen plasmas assessed by commercial and home-made methods. Br J Haematol. 2003;120:825-828.
23. Tripodi A. Laboratory diagnosis of thrombophilic states: where do we stand? Pathophysiol Haemost Thromb. 2002;32:245-248.
24. Chan WP, Lee CK, Kwong YL, et al. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood. 1998;91:1135-1139.
25. 306→Thr) associated with resistance to activated protein C. Blood. 1998;91:1140-1144.