Thromb Haemost 2005; 94(02): 463-464
DOI: 10.1055/s-0037-1614773
Case Report
Schattauer GmbH

Four cases of venous thrombosis in athletes with silent hereditary defects of the protein C system

Maurizio De Caterina
1   Department of Biochemistry and Medical Biotechnology
,
Ernesto Grimaldi
1   Department of Biochemistry and Medical Biotechnology
,
Maria Passaretti
1   Department of Biochemistry and Medical Biotechnology
,
Aldo Ruocco
1   Department of Biochemistry and Medical Biotechnology
,
Lucio Selvetella
2   Department of Experimental and Vascular Surgery
,
Vincenzo Cavallaro
3   Department of Internal Medicine, University of Naples Federico II, Naples, Italy
,
Sebastiano Di Biase
4   “MeriGen”, Molecular Biology Laboratory, Naples, Italy
,
Francesco Scopacasa
1   Department of Biochemistry and Medical Biotechnology
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Received: 12. Januar 2005

Accepted after major revision: 19. Mai 2005

Publikationsdatum:
15. Dezember 2017 (online)

 

 
  • References

  • 1 Ireland HA, Boisclair MD, Taylor J. et al. Two novel (R(-11)C;T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds. Hum Mut 1996; 7: 176-9.
  • 2 Bertina RM, Koelman BPC, Koster T. et al. Mutation in blood coagulation factor V associated with resistance to activated Protein C. Nature 1994; 369: 64-7.
  • 3 Fortin LJ, Genest J. Measurement of Homocyst( e)ine in the prediction of artheriosclerosis. Clin Biochem 1995; 28: 155-62.
  • 4 Ridker PM, Hennekens CH, Lindpaintner K. et al Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332: 914-7.
  • 5 Poort SR, Rosendaal FR, PH Reitsma. et al. A common genetic variation in the 3’ –Untraslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and in increase in venous thrombosis. Blood 1996; 10: 3698-703.
  • 6 Frosst P, Blom HJ, Milos R. et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics 1995; 10: 111-3.
  • 7 Bertina RM. Factor V Leiden and other coagulation factor mutations affecting thrombotic risk. Clin Chem 1997; 43: 1678-83.
  • 8 Koelman BPC, Reitsma PH, Bertina RM. Familial thrombopilia: a complex genetic disorder. Semin Hematol 1997; 34: 256-64.
  • 9 Selighson U, Zevelin A. Thrombophilia as a multigenic disorder. Thromb Haemost 1997; 78: 297-301.
  • 10 Bucciarelli P, Rosendaal FR, Tripodi A. et al. Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance. Arterioscl Thromb Vasc Biol 1999; 19: 1026-33.
  • 11 Selighson U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344: 1222-31.
  • 12 Allaart CF, Poort SR, Rosendaal F. et al.. Increased risk of venous thrombosis in carriers of hereditary Protein C deficiency defect. Lancet 1993; 341: 134-8.
  • 13 Ireland H, Thompson E, Lane DA. Protein C study Group. Gene mutation in 21 unrelated cases of phenotypic heterozygous Protein C deficiency and thrombosis. Thromb Haemost 1996; 76: 867-73.
  • 14 Echlin PS, Upshur REG, McKeag DB. et al. Traumatic deep vein thrombosis in a soccer player: a case study. Thromb J. 2004 2. 8.
  • 15 Zell L, Kindermann W, Marschall F. et al.. Paget- Schroetter syndrome in sports activities- case study and literature review. Angiology 2001; 52: 337-42.
  • 16 Mustonen P, Lepantalo M, Lassila R. Physical exertion induces thrombin formation and fibrin degradation in patients with peripheral atherosclerosis. Arterioscler Thromb Vasc Biol 1998; 18: 244-9.
  • 17 Lee KW, Lip GYH. Acute versus habitual exercise, thrombogenesis and exercise intensity. Thromb Haemost 2004; 91: 416-9.
  • 18 Weiss C, Egermann M, Weiss T. et al. Exercise-induced activation of coagulation in thrombophilia. J Thromb Haemost 2003; 1: 1312-3.
  • 19 Hilberg T, Jeschke D, Gabriel HH. Hereditary thrombophilia in elite athletes. Med Sci Sports Exerc 2002; 34: 218-21.
  • 20 Hilberg T, Moessmer G, Hartard M. et al. Clinical science and orthopaedics case report homozygous APC resistance in an elite athlete. Int J Sports Med 1999; 20: 198-200.