Case Report

Multi-site Thrombosis in a Patient with a Hypercoagulable State and Factor V leiden Mutation: A Case Report

Multi-site Thrombosis and Factor V leiden Mutation

Abstract

Thrombotic manifestations refer to the formation of blood clots within blood vessels.These conditions can manifest unexpectedly in various locations and are associated with potentially life-threatening situations, posing challenges in terms of both diagnosis and treatment.

Case Presentation

We present a case of multi-site thrombosis observed in a patient suffering from a hypercoagulable state, as confirmed by a positive factor V Leiden (Factor V leiden) mutation. The patient's medical history includes hypertension, Chronic obstructive pulmonary disease (COPD), prior thrombotic episodes, and previous cessation of anticoagulant therapy.

 The case illustrates the challenges of the multisystem thrombosis and the need for various diagnostic methods including echocardiography, coronary computed tomography angiography (CCTA), and Doppler ultrasonography. In this case there was presence of previous unprovoked lower limb DVT and multiple arterial thrombosis. The patient's treatment plan included anticoagulants, antiplatelet medications, and vasodilators. While a reduction in thrombus size was observed, achieving complete revascularization remained elusive.

Conclusion: To effectively identify and manage venous and arterial thrombosis often multi-modality imaging is imperative. Screening by Selected blood tests can be valuable for diagnosing or identifying congenital or acquired defects related to thrombosis development.

1. Wolberg AS, Rosendaal FR, Weitz JI, Jaffer IH, Agnelli G, Baglin T, et al. Venous thrombosis. Nature reviews Disease primers. 2015;1(1):1-17.
2. Wendelboe AM, Raskob GE. Global burden of thrombosis: epidemiologic aspects. Circulation research. 2016;118(9):1340-7.
3. Sidhom Y, Mansour M, Messelmani M, Derbali H, Fekih-Mrissa N, Zaouali J, et al. Cerebral venous thrombosis: clinical features, risk factors, and long-term outcome in a Tunisian cohort. Journal of Stroke and Cerebrovascular diseases. 2014;23(6):1291-5.
4. Sheen C, Lamparelli H, Milne A, Green I, Ramage J. Clinical features, diagnosis and outcome of acute portal vein thrombosis. Qjm. 2000;93(8):531-4.
5. Cushman M, editor Epidemiology and risk factors for venous thrombosis. Seminars in hematology; 2007: Elsevier.
6. Sørensen HT, Horvath-Puho E, Lash TL, Christiansen CF, Pesavento R, Pedersen L, et al. Heart disease may be a risk factor for pulmonary embolism without peripheral deep venous thrombosis. Circulation. 2011;124(13):1435-41.
7. Phillips D, Conley P, Sinha U, Andre P. Therapeutic approaches in arterial thrombosis. Journal of Thrombosis and Haemostasis. 2005;3(8):1577-89.
8. Mackman N, Bergmeier W, Stouffer GA, Weitz JI. Therapeutic strategies for thrombosis: new targets and approaches. Nature reviews Drug discovery. 2020;19(5):333-52.
9. Mousa SA, editor Anticoagulants in thrombosis and cancer: the missing link. Seminars in thrombosis and hemostasis; 2002: Copyright© 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New ….
10. De Stefano V, Leone G. Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia. Haematologica.1995; 80 (4): 344–56. PMID 7590506

11. Raskob GE, Angchaisuksiri P, Blanco AN, Buller H, Gallus A, Hunt BJ, et al. Thrombosis: a major contributor to global disease burden. Arteriosclerosis, thrombosis, and vascular biology. 2014;34(11):2363-71.
12. Pemmaraju N, Gerds AT, Yu J, Parasuraman S, Shah A, Xi A, et al. Thrombotic events and mortality risk in patients with newly diagnosed polycythemia vera or essential thrombocythemia. Leukemia Research. 2022;115:106809.
13. Ageno W, Becattini C, Brighton T, Selby R, Kamphuisen PW. Cardiovascular risk factors and venous thromboembolism: a meta-analysis. Circulation. 2008;117(1):93-102.
14. Brækkan SK, Hald EM, Mathiesen EB, Njølstad I, Wilsgaard T, Rosendaal FR, et al. Competing risk of atherosclerotic risk factors for arterial and venous thrombosis in a general population: the Tromsø study. Arteriosclerosis, thrombosis, and vascular biology. 2012;32(2):487-91.
15. Opitz I, Patella M, Lauk O, Inci I, Bettex D, Horisberger T, et al. Acute on chronic thromboembolic pulmonary hypertension: case series and review of management. Journal of clinical medicine. 2022;11(14):4224.
16. Rajani AR, Hussain K, Baslaib FO, Radaideh GA. A unique presentation of four thrombotic events at a time. Case Reports. 2012;2012:bcr2012007221.
17. Kujovich JL. Factor v Leiden thrombophilia. Genetics in medicine. 2011;13(1):1-16.
18. Lavorini F, Di Bello V, De Rimini ML, Lucignani G, Marconi L, Palareti G, et al. Diagnosis and treatment of pulmonary embolism: a multidisciplinary approach. Multidisciplinary respiratory medicine. 2013;8(1):1-8.
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: Hypercoagulable Cardiovascular Risk Factors
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Shahabi Raberi V, Kahourian O, Faramarz Zadeh R, Parizad R, McConnell O, Rostamzadeh A. Multi-site Thrombosis in a Patient with a Hypercoagulable State and Factor V leiden Mutation: A Case Report. J Tehran Heart Cent. 2024;.