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DOI: 10.1055/s-0037-1613885
Location and Extent of Deep Vein Thrombosis in Patients with and without FV:R 506Q Mutation
Publication History
Received
08 June 1999
Accepted after resubmission
13 December 1999
Publication Date:
08 December 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/200005/lookinside/thumbnails/10-1055-s-0037-1613885-1.jpg)
Summary
Resistance to activated protein C due to FV:R 506Q mutation is the most common known genetic risk factor for deep leg vein thrombosis (DVT). The aim of this prospective study was to describe and compare the location and extent of DVT, reflected by a scoring system, in a group of patients with and without FV:R 506Q mutation. Of 247 consecutively included patients undergoing phlebography 105 had a DVT, 36 (35%) in the FV:R 506Q mutation group and 69 (65%) in the non-FV:R 506Q mutation group. Compared to the non-FV:R 506Q mutation group there was a significant increase in the incidence of DVT in the FV:R 506Q mutation group (p = 0.041, OR = 1.79 [1.02–3.15]), a significantly lower mean DVT score of the iliofemoral vein segments (p = 0.0081) and a significantly lower incidence of DVT in the iliofemoral vein segments (p = 0.007, OR = 10.6 [1.3–83.3]), 1/36 (2.8%) compared to 16/69 (23.2%). As controls 288 blood donors were included, with and without FV:R 506Q mutation and with no history of DVT in order to evaluate risk factors of DVT. The odds ratio of an iliofemoral DVT was 0.5 ([0.06–3.90), p = 0.50]) when FV:R 506Q mutation was present, compared to the control group, and at locations below the iliofemoral segments 5.28 ([3.01–9.28], p = less than 0.0001). Our findings provide the basis of a detailed phlebographic description and for the first time, to our best knowledge, shows a specific phlebographic pattern that may be linked to an inherited hypercoagulable state.
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References
- 1 Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-22.
- 2 Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
- 3 Dahlbäck B. New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thromb Haemost 1995; 74: 139-48.
- 4 Desmarais S, de Moerloose P, Reber G, Minazio P, Perrier A, Bounameaux H. Resistance to activated protein C in an unselected population of patients with pulmonary embolism. Lancet 1996; 347: 1374-5.
- 5 Koster T, Rosendaal FR, de Ronde H, Briët Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-6.
- 6 Manten B, Westendorp RG, Koster T, Reitsma PH, Rosendaal FR. Risk factor profiles in patients with different clinical manifestations of venous thromboembolism: a focus on the factor V Leiden mutation. Thromb Haemost 1996; 76: 5103.
- 7 Ridker PM, Miletich JP, Stampfer MJ, Goldhaber SZ, Lindpaintner K, Hennekens CH. Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. Circulation 1995; 92: 2800-2.
- 8 Simioni P, Prandoni P, Lensing AW, Scudeller A, Sardella C, Prins MH, Villalta S, Dazzi F, Girolami A. The risk of recurrent venous thromboembolism in patients with an Arg506→Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med 1997; 336: 399-403.
- 9 Martinelli I, Cattaneo M, Panzeri D, Mannucci PM. Low prevalence of Factor V:Q506 in 41 patients with isolated pulmonary embolism. Thromb Haemost 1997; 77: 440-3.
- 10 Baglin TP, Brown K, Williamson D, Baker P, Luddington R. Relative risk of pulmonary embolism and deep vein thrombosis in association with the factor V Leiden mutation in a United Kingdom population. Thromb Haemost 1997; 77: 1219.
- 11 Turkstra F, Karemaker R, Kuijer PMM, Prins MH, Büller HR. Is the prevalence of the factor V Leiden mutation in patients with pulmonary embolism and deep vein thrombosis really different?. Thromb Haemost 1999; 81: 345-8.
- 12 Vandenbroucke JP, Bertina RM, Holmes ZR, Spaargaren C, van Krieken JHJM, Manten B, Reitsma PH. Factor V Leiden and fatal pulmonary embolism. Thromb Haemost 1998; 79: 511-6.
- 13 Zöller B, Svensson PJ, He X, Dahlbäck B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994; 94: 2521-4.
- 14 Björgell O, Nilsson PE, Svensson PJ, Bergqvist D. A new scoring system for the detailed description of the distribution and thrombotic burden in deep leg vein thrombosis. Angiology 1999; 50: 179-87.
- 15 Marder VJ, Soulen RL, Atichartakarn V, Budzynski AZ, Parulekar S, Kim JR, Edward N, Zahavi J, Algazy KM. Quantitative venographic assessment of deep vein thrombosis in the evaluation of streptokinase and heparin therapy. J Lab Clin Med 1977; 89: 1018-29.
- 16 Doyle DJ, Turpie AGG, Hirsh J, Best C, Kinch D, Levine MN, Gent M. Adjusted subcutaneous heparin and continuous intravenous heparin in patients with acute deep vein thrombosis. Ann Int Med 1987; 107: 441-5.
- 17 Moser KM, LeMoine JR. Is embolic risk conditioned by location of deep venous thrombosis?. Ann Int Med 1981; 94 (Part 1): 439-44.
- 18 Hull RD, Hirsh J, Carter CJ, Jay RM, Dodd PE, Ockelford PA, Coates G, Gill GJ, Turpie AG, Doyle DJ, Buller HR, Raskob GE. Pulmonary angiography, ventilation lung scanning, and venography for clinically suspected pulmonary embolism with abnormal perfusion lung scan. Ann Intern Med 1983; 98: 891-9.
- 19 Havig Ö. Deep vein thrombosis and pulmonary embolism. Acta Chir Scand. 1977 Suppl 478.
- 20 Lagerstedt CI, Olsson C-G, Fagher BO, Öqvist BW, Albrechtsson U. Need for long-term anticoagulant treatment in symptomatic calf-vein thrombosis. Lancet 1985; 72: 515-8.
- 21 Lohr JM, Kerr TM, Lutter KS, Cranley RD, Spirtoff K, Cranley JJ. Lower extremity calf thrombosis: To treat or not to treat?. J Vasc Surg 1991; 14: 618-23.
- 22 Sevitt S, Gallagher N. Venous thrombosis and pulmonary embolism. A clinicopathological study in injured and burned patients. Br J Surg 1961; 48: 475-89.
- 23 Giachino A. Relationship between deep-vein thrombosis in the calf and fatal pulmonary embolism. Can J Surg 1983; 146: 581-5.
- 24 Menzoian JO, Sequeira JC, Doyle JE, Cantelmo NL, Nowak M, Tracey K, Zimmerman R, Mozden PJ. Therapeutic and clinical course of deep vein thrombosis. Am J Surg 1983; 146: 581-5.
- 25 Kistner RL, Ball JJ, Nordyke RA, Freeman GC. Incidence of pulmonary embolism in the course of thrombophlebitis of the lower extremities. Am J Surg 1972; 124: 169-76.
- 26 Astermark J, Björgell O, Lindén E, Lethagen S, Nilsson P, Berntorp E. Low recurrence rate after deep calf-vein thrombosis with 6 weeks of oral anticoagulation. J Int Med 1998; 244: 79-82.
- 27 Nylander G, Olivecrona H. The phlebographic pattern of acute leg thrombosis within a defined urban population. Acta Chir Scand 1976; 142: 505-11.