Similar hypercoagulable state and thrombosis risk in type I and type III protein s-deficient individuals from families with mixed type I/III protein S deficiency

Haematologica

Volumn 95, Issue 9, 2010, Pages 1563-1571

  Castoldi, Elisabetta ^a   Maurissen, Lisbeth F A ^a   Tormene, Daniela ^b   Spiezia, Luca ^b   Gavasso, Sabrina ^b   Radu, Claudia ^b   Hackeng, Tilman M ^a   Rosing, Jan ^a   Simioni, Paolo ^b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Activated protein C (APC); Kaplan Meier analysis; Protein S; Thrombin generation; Tissue factor pathway inhibitor (TFPI)

Indexed keywords

ACTIVATED PROTEIN C; PROTEIN S; PROTHROMBIN; TISSUE FACTOR PATHWAY INHIBITOR;

ADULT; AGE; ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HYPERCOAGULABILITY; MAJOR CLINICAL STUDY; MALE; PROTEIN S DEFICIENCY; RISK FACTOR; SURVIVAL RATE; THROMBIN TIME; THROMBOSIS;

ADOLESCENT; ADULT; DISEASE-FREE SURVIVAL; FAMILY; FEMALE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; PROTEIN S DEFICIENCY; THROMBOPHILIA; THROMBOSIS; YOUNG ADULT;

EID: 77956808104     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.021923     Document Type: Article

References (46)

1. Rezende SM, Simmonds RE, Lane DA. Coagulation, inflammation, and apoptosis: different roles for protein S and the protein S-C4b binding protein complex. Blood. 2004;103(4):1192-201.
2. Dahlbäck B. The tale of protein S and C4bbinding protein, a story of affection. Thromb Haemost. 2007;98(1):90-6.
3. Griffin JH, Gruber A, Fernández JA. Reevaluation of total, free, and bound protein S and C4b-binding protein levels in plasma anticoagulated with citrate or hirudin. Blood. 1992;79(12):3203-11.
4. Castoldi E, Hackeng TM. Regulation of coagulation by protein S. Curr Opin Hematol. 2008;15(5):529-36.
5. Walker FJ. Protein S and the regulation of activated protein C. Semin Thromb Hemost. 1984;10(2):131-8.
6. Hackeng TM, Seré KM, Tans G, Rosing J. Protein S stimulates inhibition of the tissue factor pathway by tissue factor pathway inhibitor. Proc Natl Acad Sci USA. 2006; 103(9):3106-11.
7. Ndonwi M, Broze G Jr. Protein S enhances the TFPI inhibition of factor Xa but not its inhibition of factor VIIa/tissue factor. J Thromb Haemost. 2008;6(6):1044-6.
8. Maurissen LF, Thomassen MC, Nicolaes GA, Dahlbäck B, Tans G, Rosing J, Hackeng TM. Re-evaluation of the role of the protein S-C4b binding protein complex in activated protein C-catalyzed factor Va-inactivation. Blood. 2008;111(6):3034-41.
9. Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med. 1984;311(24):1525-8.
10. Schwarz HP, Fischer M, Hopmeier P, Batard MA, Griffin JH. Plasma protein S deficiency in familial thrombotic disease. Blood. 1984;64(6):1297-300.
11. García de Frutos P, Fuentes-Prior P, Hurtado B, Sala N. Molecular basis of protein S deficiency. Thromb Haemost. 2007;98(3):543-56.
12. Pintao MC, Garcia AA, Borgel D, Alhenc-Gelas M, Spek CA, de Visser MC, et al. Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. Hum Genet. 2009;126(3):449-56.
13. Liberti G, Bertina RM, Rosendaal FR. Hormonal state rather than age influences cut-off values of protein S: reevaluation of the thrombotic risk associated with protein S deficiency. Thromb Haemost. 1999;82(3):1093-6.
14. Zöller B, García de Frutos P, Dahlbäck B. Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. Blood. 1995;85(12):3524-31.
15. Simmonds RE, Zöller B, Ireland H, Thompson E, García de Frutos P, Dahlbäck B, Lane DA. Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes. Blood. 1997;89(12): 4364-70.
16. Ten Kate MK, Platteel M, Mulder R, Terpstra P, Nicolaes GA, Reitsma PH, et al. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. Hum Mutat. 2008;29(7):939-47.
17. Bertina RM, Ploos van Amstel HK, van Wijngaarden A, Coenen J, Leemhuis MP, Deutz-Terlouw PP, et al. Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. Blood. 1990;76(3):538-48.
18. Faioni EM, Valsecchi C, Palla A, Taioli E, Razzari C, Mannucci PM. Free protein S deficiency is a risk factor for venous thrombosis. Thromb Haemost. 1997;78(5):1343-6.
19. Borgel D, Reny JL, Fischelis D, Gandrille S, Emmerich J, Fiessinger JN, Aiach M. Cleaved protein S (PS), total PS, free PS, and activated protein C cofactor activity as risk factors for venous thromboembolism. Clin Chem. 2003;49(4):575-80.
20. Biguzzi E, Razzari C, Lane DA, Castaman G, Cappellari A, Bucciarelli P, et al. Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. Hum Mutat. 2005;25(3):259-69.
21. Libourel EJ, Bank I, Veeger NJ, Hamulyák K, Middeldorp S, Prins MH, et al. Protein S type III deficiency is no risk factor for venous and arterial thromboembolism in 168 thrombophilic families: a retrospective study. Blood Coagul Fibrinolysis. 2005; 16(2):135-40.
22. Mateo J, Oliver A, Borrell M, Sala N, Fontcuberta J. Increased risk of venous thrombosis in carriers of natural anticoagulant deficiencies. Results of the family studies of the Spanish Multicenter Study on Thrombophilia (EMET study). Blood Coagul Fibrinolysis. 1998;9(1):71-8.
23. Brouwer JL, Veeger NJ, van der Schaaf W, Kluin-Nelemans HC, van der Meer J. Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification. Br J Haematol. 2005;128(5): 703-10.
24. Simioni P, Sanson BJ, Prandoni P, Tormene D, Friederich PW, Girolami B, et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost. 1999;81(2):198-202.
25. Simmonds RE, Ireland H, Lane DA, Zöller B, García de Frutos P, Dahlbäck B. Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect. Ann Intern Med. 1998;128(1):8-14.
26. Makris M, Leach M, Beauchamp NJ, Daly ME, Cooper PC, Hampton KK, et al. Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Blood. 2000;95(6):1935-41.
27. Seré KM, Janssen MP, Willems GM, Tans G, Rosing J, Hackeng TM. Purified protein S contains multimeric forms with increased APC-independent anticoagulant activity. Biochemistry. 2001;40(30):8852-60.
28. Koenen RR, Christella M, Thomassen LG, Tans G, Rosing J, Hackeng TM. Effect of oral contraceptives on the anticoagulant activity of protein S in plasma. Thromb Haemost. 2005;93(5):853-9.
29. Maurissen LF, Castoldi E, Simioni P, Rosing J, Hackeng TM. Thrombin generation-based assays to measure the activity of the TFPIprotein S pathway in plasma from normal and protein S-deficient individuals. J Thromb Haemost. 2010;8(4):750-8.
30. Castoldi E, Simioni P, Tormene D, Thomassen MC, Spiezia L, Gavasso S, Rosing J. Differential effects of high prothrombin levels on thrombin generation depending on the cause of the hyperprothrombinemia. J Thromb Haemost. 2007; 5(5):971-9.
31. Hemker HC, Giesen P, AlDieri R, Regnault V, de Smed E, Wagenvoord R, et al. The calibrated automated thrombogram (CAT): a universal routine test for hyper- and hypocoagulability. Pathophysiol Haemost Thromb. 2002;32(5-6):249-53.
32. Dielis AW, Castoldi E, Spronk HM, van Oerle R, Hamulyák K, Ten Cate H, Rosing J. Coagulation factors and the protein C system as determinants of thrombin generation in a normal population. J Thromb Haemost. 2008;6(1):125-31.
33. Castoldi E, Simioni P, Tormene D, Rosing J, Hackeng TM. Hereditary and acquired protein S deficiencies are associated with low TFPI levels in plasma. J Thromb Haemost. 2010;8(2):294-300.
34. Dahm AE, Sandset PM, Rosendaal FR. The association between protein S levels and anticoagulant activity of tissue factor pathway inhibitor type 1. J Thromb Haemost. 2008;6(2):393-5.
35. Koenen RR, Tans G, van Oerle R, Hamulyák K, Rosing J, Hackeng TM. The APC-independent anticoagulant activity of protein S in plasma is decreased by elevated prothrombin levels due to the prothrombin G20210A mutation. Blood. 2003;102(5): 1686-92.
36. Tans G, van Hylckama Vlieg A, Thomassen MC, Curvers J, Bertina RM, Rosing J, Rosendaal FR. Activated protein C resistance determined with a thrombin generation-based test predicts for venous thrombosis in men and women. Br J Haematol. 2003;122(3):465-70.
37. Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud M, Dreyfus M, Matheron C, et al. Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. Blood. 1995;85(1):130-8.
38. Simmonds RE, Ireland H, Kunz G, Lane DA. Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group. Blood. 1996;88(11):4195-204.
39. Marchetti G, Legnani C, Patracchini P, Gemmati D, Ferrati M, Palareti G, et al. Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency. Br J Haematol. 1993;85(1):173-5.
40. Formstone CJ, Wacey AI, Berg LP, Rahman S, Bevan D, Rowley M, et al. Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. Blood. 1995;86(7):2632-41.
41. Rezende SM, Lane DA, Zöller B, Mille-Baker B, Laffan M, Dalhbäck B, Simmonds RE. Genetic and phenotypic variability between families with hereditary protein S deficiency. Thromb Haemost. 2002;87(2): 258-65.
42. Beauchamp NJ, Dykes AC, Parikh N, Campbell Tait R, Daly ME. The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population. Br J Haematol. 2004;125(5):647-54.
43. Espinosa-Parrilla Y, Morell M, Souto JC, Tirado I, Fontcuberta J, Estivill X, Sala N. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. Hum Mutat. 1999;14(1):30-9.
44. Beauchamp NJ, Daly ME, Cooper PC, Makris M, Preston FE, Peake IR. Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. Blood. 1996;88(5):1700-7.
45. Hermida J, Faioni EM, Mannucci PM. Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. Thromb Haemost. 1999;82(6):1634-8.
46. Schmidel DK, Tatro AV, Phelps LG, Tomczak JA, Long GL. Organization of the human protein S genes. Biochemistry. 1990;29(34):7845-52.