An underestimated combination of opposites resulting in enhanced thrombotic tendency

Blood

Volumn 106, Issue 7, 2005, Pages 2363-2365

  Simioni, Paolo ^a   Castoldi, Elisabetta ^b   Lunghi, Barbara ^b   Tormene, Daniela ^b   Rosing, Jan ^b   Bernardi, Francesco ^b  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; KAPLAN MEIER METHOD; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RISK ASSESSMENT; SURVIVAL; THROMBOPHILIA; THROMBOSIS;

EID: 27144463464     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-04-1461     Document Type: Article

References (16)

1. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
2. 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.
3. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood. 1995;85:1504-1508.
4. Greengard JS, Alhenc-Gelas M, Gandrille S, Emmerich J, Aiach M, Griffin JH. Pseudo-homozygous activated protein C resistance due to coinheritance of heterozygous factor V-R506Q and type I factor V deficiency associated with thrombosis [abstract]. Thromb Haemost. 1995;73:1361.
5. Simioni P, Scudeller A, Radossi P, et al. "Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds. Thromb Haemost. 1996;75:422-426.
6. Castoldi E, Kalafatis M, Lunghi B, et al. Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma. Thromb Haemost. 1998;80:403-406.
7. Acharya SS, Coughlin A, Dimichele DM, North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. 2004;2:248-256.
8. Castaman G, Tosetto A, Ruggeri M, Rodeghiero F. Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis. Br J Haematol. 1999;106:232-236.
9. Simioni P, Sanson BJ, Prandoni P, et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost. 1999;81:198-202.
10. Scanavini D, Girelli D, Lunghi B, et al. Modulation of factor V levels in plasma by polymorphisms in the C2 domain. Arterioscler Thromb Vasc Biol. 2004;24:200-206.
11. Castoldi E, Brugge JM, Nicolaes GA, Girelli D, Tans G, Rosing J. Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations. Blood. 2004;103:4173-4179.
12. Olds R, Simioni P, Thompson E, Morgan T, Girolami A, Lane DA. Factor V Gly2112Asp, a C2-domain variant, is associated with severe deficiency and bleeding tendency [abstract]. J Thromb Haemost. 2003;1:P1206.
13. Castoldi E, Lunghi B, Mingozzi F, et al. A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V defi-ciency in the Italian population. Haematologica. 2001;86:629-633.
14. Tans G, van Hylckama Vlieg A, Thomassen MC, et al. Activated protein C resistance determined with a thrombin generation-based test predicts for venous thrombosis in men and women. Br J Haematol. 2003;122:465-470.
15. Curvers J, Thomassen MC, Rimmer J, et al. Effects of hereditary and acquired risk factors of venous thrombosis on a thrombin generationbased APC resistance test. Thromb Haemost. 2002;88:5-11.
16. Shen L, Dahlbäck B. Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa. J Biol Chem. 1994;269:18735-18738.