Vnitr Lek 2009, 55(Suppl 1):41-47
Indication for examination of risk factors for venous thrombosis
- Oddělení klinické hematologie FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Miroslav Penka, CSc.
Pathogenesis of thrombosis includes many interacting factors, both inherited and environmental. We are able to detect a lot of thrombotic risk factors. Surveying these should be indicated only in cases where knowledge of the defect can influence patient's treatment. Wide range screening of defects in which there is no definite proven relation to clinical picture is not recommended.
Keywords: thrombophilia; venous thrombosis; laboratory examination
Received: April 16, 2009; Published: February 1, 2009 Show citation
References
- Naess IA, Christiansen SC, Romundstad P. Incidence and mortality of venous thrombosis: a population-based study. J Thromb Haemost 2007; 5: 692-699.
Go to original source...
Go to PubMed...
- Rosendaal FR. Risk factors for venous thrombotic disease. Thromb Haemost 1999; 82: 610-619.
Go to original source...
Go to PubMed...
- Lane DA, Mannucci PM, Bauer KA et al. Inherited thrombophilia: Part 1. Thromb Haemost 1996; 76: 651-662.
Go to original source...
Go to PubMed...
- Walker ID, Greaves M, Preston FE, on behalf of the Haemostasis and Thrombosis Task Force British Committee for Standards in Hematology. Investigation and management of heritable thrombophilia. Br J Haematol 2001; 114: 512-528.
Go to original source...
Go to PubMed...
- Rosendaal FR. Venous thrombosis: the role of genes, environment, and behavior. Hematology Am Soc Hematol Educ Program 2005; 47: 1-12.
Go to original source...
- Dulíček P. Trombofilní stavy. Vnitř Lék 2005; 51: 819-824.
- Greaves M, Baglin T. Laboratory testing for heritable thrombophilia: impact on clinical management of thrombotic disease annotation. Br J Haematol 2000; 109: 699-703.
Go to original source...
Go to PubMed...
- Jick H, Slone D, Westerholm B et al. Venous thromboembolic disease and ABO blood type. A cooperative study. Lancet 1969; 1: 539-542.
Go to original source...
Go to PubMed...
- Wautrecht JC, Galle C, Motte S et al. The role of ABO Blood groups in the incidence of deep vein thrombosis. Thromb Haemost 1998; 79: 688-689.
Go to original source...
Go to PubMed...
- González Ordóñez AJ, Medina Rodriguez JM, Martín L et al. The 0 blood group protects against venous thromboembolism in individuals with the factor V Leiden but not the prothrombin (factor II G20210A) mutation. Blood Coagul Fibrinolysis 1999; 10: 303-307.
Go to original source...
Go to PubMed...
- Matýšková M, Zavřelová J, Pejchalová A et al. Krevní skupiny AB0/H a faktor V Leiden. Čas lék čes 2002; 141: 146-151.
- Martinelli I, Mannucci PM, De Stefano V et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: A study of 150 families. Blood 1998; 92: 2353-2358.
Go to original source...
- Kraaijenhagen RA, in't Anker PS, Koopman MM et al. High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost 2000; 83: 5-9.
Go to original source...
Go to PubMed...
- Verstraete M. Hyperhomocysteinemia as a risk factor for arterial and venous thrombosis. Hämostaseol 1998; 18: S14-S18.
Go to original source...
- Vorlová Z, Hrachovinová I, Matýšková M. APC-Resistance in Patients with a Thromboembolism. In: Hermann FH (ed). Molekulargenetik hereditärer Hämostasedefekte. Greifswalder Hämophilie-Tagung: Pabst Science Publishers 1996: 113-116.
- Matýšková M, Paseka J, Vorlová Z et al. Prevalence of factor V Leiden mutation in healthy women. In: Scharrer I, Schramm W (eds). 29. Hämophilie - Symposion Hamburg 1998.Berlin Heidelberg: Springer 1999: 309-311.
Go to original source...
- 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 USA 1993; 90: 1004-1008.
Go to original source...
Go to PubMed...
- 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.
Go to original source...
Go to PubMed...
- Bounameaux H. Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism. Lancet 2000; 356: 182-183.
Go to original source...
Go to PubMed...
- 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.
Go to original source...
- Matýšková M, Vorlová Z, Hrachovinová I et al. Klinické nálezy u jedinců s Leidenskou mutací faktoru V. Vnitř Lék 1997; 43: 298-301.
Go to PubMed...
- Dulícek P, Malý J, Safárová M. Risk of thrombosis in patients homozygous and heterozygous for factor V Leiden in the East Bohemian region. Clin Appl Thromb Hemost 2000; 6: 87-89.
Go to original source...
Go to PubMed...
- Matýšková M, Šlechtová M, Čech Z et al. Factor V Leiden homozygosity in women. Thromb Res 2009; 123 (Suppl 2): S155. Abstract P54.
Go to original source...
- Gerhardt A, Scharf RE, Zotz RB. Effect of hemostatic risk factors on the individual probability of thrombosis during pregnancy and the puerperium. Thromb Haemost 2003; 90: 77-85.
Go to original source...
Go to PubMed...
- Dulíček P, Malý J, Kalousek I et al. Výskyt venózního tromboembolizmu u žen s Leidenskou mutací v souvislosti s graviditou a šestinedělím. Čes Gynekol 2005; 70: 133-138.
- Pomp ER, Lenselink AM, Rosendaal FR et al. Pregnancy, the postpartum period and prothrombotic defects: risk of venous thrombosis in the MEGA study. J Thromb Haemost 2008; 6: 632-637.
Go to original source...
Go to PubMed...
- Kist WJ, Janssen NG, Kalk JJ et al. Thrombophilias and adverse pregnancy outcome - A confound problem! Thromb Haemost 2008; 99: 77-85.
Go to original source...
Go to PubMed...
- van Dunné FM, Doggen CJ, Heemskerk M. Factor V Leiden mutation in relation to fecundity and miscarriage in women with venous thrombosis. Hum Reprod 2005; 20: 802-806.
Go to original source...
Go to PubMed...
- Simur A, Özdemir S, Acar H et al. Repeated in vitro fertilization failure and its relation with thrombophilia. Gynecol Obstet Invest 2009; 67: 109-112.
Go to original source...
Go to PubMed...
- Eichinger S, Weltermann A, Mannhalter C et al. The risk of recurrent venous thromboembolism in heterozygous carriers of factor V Leiden and a first spontaneous venous thromboembolism. Arch Intern Med 2002; 162: 2357-2360.
Go to original source...
Go to PubMed...
- Marchiori A, Mosena L, Prins MH et al. The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies. Haematologica 2007; 47: 1107-1114.
Go to original source...
Go to PubMed...
- Ho WK, Hankey GJ, Quinlan DJ et al. Risk of recurrent venous thromboembolism in patients with common thrombophilia: a systematic review. Arch Intern Med 2006; 166: 729-736.
Go to original source...
Go to PubMed...
- De Stefano V, Martinelli I, Mannucci PM et al. The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation. Br J Hameatol 2001; 113: 630-635.
Go to original source...
Go to PubMed...
- Lindqvist PG, Svensson PJ, Dahlbäck B et al. Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss-a possible evolutionary selection mechanism. Thromb Haemost 1998; 79: 69-73.
Go to original source...
Go to PubMed...
- Zivelin A, Griffin JH, Xu X et al. A single genetic origin for a common caucasian risk factor for venous thrombosis. Blood 1997; 89: 397-402.
Go to original source...
- Zivelin A, Rosenberg N, Faier S et al. A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood 1998; 92: 1119-1124.
Go to original source...
- Hrachovinová I, Vorlová Z, Matýšková M et al. Thrombotic risk of the prothrombin gene G20210A mutation and clinical features of thrombophilia in 50 carriers of the mutation. Thromb Haemost 1999; Suppl. Abstracts XVII. Congress of the ISTH, Washington: 652, No 2060.
- Coppens M, van de Poel MH, Bank I et al. A prospective cohort study on the absolute incidence of venous thromboembolism and arterial cardiovascular disease in asymptomatic carriers of the prothrombin 20210A mutation. Blood 2006; 108: 2604-2607.
Go to original source...
Go to PubMed...
- Rossi E, Za T, Ciminello A et al. The risk of symptomatic pulmonary embolism due to proximal deep venous thrombosis differs in patients with different types of inherited thrombophilia. Thromb Haemost 2008; 99: 1030-1034.
Go to original source...
Go to PubMed...
- Ridker PM, Hennekens CH, Miletich JP. G20210A station in prothrombin gene and risk of myocardial infarction, stroke, and venous thrombosis in a large kohort of US men. Circulation 1999; 99: 999-1004.
Go to original source...
Go to PubMed...
- Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-530.
Go to original source...
- Hule V. Vrozené rodinné snížení antitrombinu III. Vnitř Lék 1977; 23: 887-892.
Go to PubMed...
- Hrachovinová I, Habart D, Salaj P et al. Molekulární podstata vrozeného defektu antitrombinu u deseti českých rodin. Čas Lék Čes 2000; 139: 595-597.
- van Boven HH, Lane DA. Antithrombin and its inherited deficiency state. Semin Hematol 1997; 34: 188-204.
- van Boven HH, Vandenbroucke JP, Briët E et al. Gene-gene and gene-enviromental interactions determine risk of thrombosis in families with inherited antithrombin deficiency. Blood 1999; 94: 2590-2594.
Go to original source...
- Rau JC, Beaulieu LM, Huntington JA et al. Serpins in thrombosis, hemostasis and fibrinolysis. J Thromb Haemost 2007; 5 (Suppl 1): 102-115.
Go to original source...
Go to PubMed...
- Koster T, Rosendaal FR, Briët E et al. Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study). Blood 1995; 85: 2756-2761.
Go to original source...
- Dykes AC, Walker ID, McMahon AD et al. A study of Protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency state. Br J Haematol 2001; 113: 636-641.
Go to original source...
Go to PubMed...
- Brouwer JLP, Veeger NJGM, van der Schaaf W et al. 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: 703-710.
Go to original source...
Go to PubMed...
- Meijers JCM, Tekelenburg W, Marquart JA et al. Factor XI levels: A new risk factor for thrombosis. Thromb Haemost 1999; Suppl. Abstracts XVII. Congress ISTH Washington, 496.
- Cristina L, Benilde C, Michela C et al. High plasma levels of factor VIII and risk of recurrence of venous thromboembolism. Br J Hameatol 2004; 124: 504-510.
Go to original source...
Go to PubMed...
- van Hylckama Vlieg A, van der Linden IK, Bertina RM et al. High levels of factor IX increase the risk of venous thrombosis. Blood 2000; 95: 3678-3682.
Go to original source...
- Lavigne G, Mercier E, Queré I et al. Thrombophilic families with inheritably associated high levels of coagulation factors VIII, IX and XI. J Thromb Haemost 2003; 1: 2134-2139.
Go to original source...
Go to PubMed...
- Vossen CY, Conard J, Fontcuberta J et al. Familial thrombophilia and lifetime risk of venous thrombosis. J Thromb Haemost 2004; 2: 1526-1532.
Go to original source...
Go to PubMed...
- Matýšková M, Šlechtová M, Zavřelová J et al. Combined FV Leiden and antithrombin deficiency in women. Thrombosis Res 2009; 123 (Suppl 2): S155. Abstract P55.
Go to original source...
- Martinelli I, Legnani C, Bucciarelli P et al. Risk of pregnancy-related venous thrombosis in carriers of severe inherited thrombophilia. Thromb Haemost 2001; 86: 800-803.
Go to original source...
Go to PubMed...
- Martinelli I, De Stefano V, Taiolo E et al. Inherited thrombophilia and first venous thromboembolism during pregnancy and puerperium. Thromb Haemost 2002; 87: 791-795.
Go to original source...
Go to PubMed...
- van Vlijmen EF, Brouwer JL, Veeger NJ et al. Oral contraceptives and the absolute risk of venous thromboembolism in women with single or multiple thrombophilic defects: results from a retrospective family cohort study. Arch Intern Med 2007; 167: 282-289.
Go to original source...
Go to PubMed...
- Dulíček P, Malý J, Pecka M et al. Venous thromboembolism in association with oral contraceptive use: high frequency of inherited thrombophilia and analysis of thrombotic events in 500 Czech women. Thrombosis Res 2009; 123 (Suppl 2): S135. Abstract O13.
Go to original source...
- Green D. Genetic hypercoagulability: screening should be an informed choice. Blood 2001; 98: 20.
Go to original source...
Go to PubMed...
- Mannucci PM. Genetic hypercoagulability: prevention suggests testing family members. Blood 2001; 98: 21-22.
Go to original source...
Go to PubMed...
- Martinelli I. Pros and cons of thrombophilia testing: pros. J Tromb Haemost 2003; 1: 410-411.
Go to original source...
Go to PubMed...
- Machin SJ. Pros and cons of thrombophilia testing: cons. J Tromb Haemost 2003; 3: 412-413.
Go to original source...
Go to PubMed...
- Dalen JE. Should patients with venous thromboembolism be screened for thrombophilia? Am J Med 2008; 121: 458-463.
Go to original source...
Go to PubMed...
- Lane DA, Mannucci PM, Bauer KA et al. Inherited thrombophilia: Part 2. Thromb Haemost 1996; 76: 824-834.
Go to original source...
Go to PubMed...
- Hirsh J, Lee AY. How we diagnose and treat deep vein thrombosis. Blood 2002; 99: 3102-3110.
Go to original source...
Go to PubMed...
- Taliani MR, Becattini C, Agnelli G et al. Duration of anticoagulant treatment and recurrence of venous thromboembolism in patients with and without thrombophilic abnormalities. Thromb Haemost 2009; 101: 596-598.
Go to original source...
Go to PubMed...
- Grand'Maison A, Bates SM, Johnston M et al. "ProC Global": A functional screening test that predicts recurrent venous thromboembolism. Thromb Haemost 2005; 93: 600-604.
Go to original source...
Go to PubMed...
- Eichinger S, Hron G, Hirschl M et al. Prediction of recurrent venous thromboembolism by measuring ProC Global. Thromb Haemost 2007; 98: 1232-1236.
Go to original source...
Go to PubMed...
- Sanson BJ, Simioni P, Tormene D et al. The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, protein S: A prospective cohort study. Blood 1999; 94: 3702-3706.
- Kearon C, Julian JA, Kovacs MJ et al. Influence of thrombophilia on risk of recurrent venous thromboembolism while on warfarin: results from a randomized trial. Blood 2008; 112: 4432-4436.
Go to original source...
Go to PubMed...
- Tormene D, Simioni P, Prandoni P et al. The incidence of venous thromboembolism in thrombophilic children: a prospective cohort study. Blood 2002; 100: 2403-2405.
Go to original source...
Go to PubMed...
- Young G, Albisetti M, Bonduel M et al. Impact of inherited thrombophilia on venous thromboembolism in children: A systematic review and meta-analysis of observational studies. Circulation 2008; 118: 1373-1382.
Go to original source...
Go to PubMed...
- De Stefano V, Rossi E, Paciaroni K et al. Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica 2002; 87: 1095-1108.
Go to original source...
Go to PubMed...
- Vandenbroucke JP, van der Meer FJ, Helmerhorst FM et al. Factor V Leiden: Should we screen oral contraceptive users and pregnant women? BMJ 1996; 313: 1127-1130.
Go to original source...
Go to PubMed...
- Clark P, Twaddle S, Walker ID et al. Cost-effectiveness of screening for the factor V Leiden mutation in pregnant women. Lancet 2002; 359: 1919-1920.
Go to original source...
Go to PubMed...
- Blanco-Molina Á, Trujillo-Santos J, Tirado R et al. Venous thromboembolism in women using hormonal contraceptives. Findings from the RIETE Registry. Thromb Haemost 2009; 101: 478-482.
Go to original source...
Go to PubMed...
- Procházka M, Krčová V, Prášilová J et al. Tromboembolická nemoc v těhotenství. Gynekolog 1999; 2: 79-81.
- Wu O, Robertson L, Twaddle S et al. Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. Br J Haematol 2005; 131: 80-90.
Go to original source...
Go to PubMed...
- Atherosclerosis, Thrombosis, and Vascular Biology Italian Study Group: No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation 2003; 107: 1117-1122.
Go to original source...
Go to PubMed...
- De Stefano V, Fiorini A, Rossi E et al. Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disorders. J Thromb Haemost 2007; 5: 708-714.
Go to original source...
Go to PubMed...
- Tondeur S, Boutruche S, Biron-Andréani C et al. Prevalence of the JAK2 V617F mutation associated with splanchnic vein thrombosis. A 10-year retrospective study. Thromb Haemost 2009; 101: 787-789.
Go to original source...
Go to PubMed...
- Bauer KA. The Thrombophilias: Well-Defined Risk Factors with Uncertain Therapeutic Implications. Arch Intern Med 2001; 135: 367-373.
Go to original source...
Go to PubMed...