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

• 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.