Unexplained Multi-Site Thrombosis: A Step-by-Step Strategy for Factor V Leiden Detection in a Hypercoagulable Patient
Abstract
Thrombotic manifestations involve the development of blood clots within blood vessels. These conditions can occur unexpectedly in different areas and are often linked to life-threatening situations, presenting challenges for both diagnosis and treatment.
We present a case of multi-site thrombosis in a patient with a confirmed hypercoagulable state, resulting from a positive factor V Leiden mutation. The patient’s medical history included hypertension, chronic obstructive pulmonary disease, previous thrombotic events, and changes in anticoagulant therapy.
This case highlights the challenges associated with multisystem thrombosis and underscores the necessity of employing various diagnostic techniques, such as echocardiography, computed coronary angiography, and Doppler ultrasonography. In this instance, the patient presented with a history of unprovoked lower limb deep vein thrombosis and multiple arterial thromboses.
The patient’s treatment regimen comprised anticoagulants, antiplatelet drugs, and vasodilators. While a reduction in thrombus size was noted, complete revascularization could not be attained.
Effective diagnosis and treatment of venous and arterial thrombosis often require multimodal imaging. Selective blood test screening can be beneficial in diagnosing or detecting inherited or acquired abnormalities linked to thrombosis development.
2. Wendelboe AM, Raskob GE. Global Burden of Thrombosis: Epidemiologic Aspects. Circ Res 2016;118:1340-1347.
3. Sidhom Y, Mansour M, Messelmani M, Derbali H, Fekih-Mrissa N, Zaouali J, Mrissa R. Cerebral venous thrombosis: clinical features, risk factors, and long-term outcome in a Tunisian cohort. J Stroke Cerebrovasc Dis 2014;23:1291-1295.
4. Sheen CL, Lamparelli H, Milne A, Green I, Ramage JK. Clinical features, diagnosis and outcome of acute portal vein thrombosis. QJM 2000;93:531-534.
5. Cushman M. Epidemiology and risk factors for venous thrombosis. Semin Hematol 2007;44:62-69.
6. Sørensen HT, Horvath-Puho E, Lash TL, Christiansen CF, Pesavento R, Pedersen L, Baron JA, Prandoni P. Heart disease may be a risk factor for pulmonary embolism without peripheral deep venous thrombosis. Circulation 2011;124:1435-1441.
7. Phillips DR, Conley PB, Sinha U, Andre P. Therapeutic approaches in arterial thrombosis. J Thromb Haemost 2005;3:1577-1589.
8. Mackman N, Bergmeier W, Stouffer GA, Weitz JI. Therapeutic strategies for thrombosis: new targets and approaches. Nat Rev Drug Discov 2020;19:333-352.
9. Mousa SA. Anticoagulants in thrombosis and cancer: the missing link. Semin Thromb Hemost 2002;28:45-52.
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;80:344-356.
11. Albagoush SA, Koya S, Chakraborty RK. Factor V Leiden Mutation. [Updated 2023 Apr 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK534802/ (Accessed 23 July 2024).
12. Raskob GE, Angchaisuksiri P, Blanco AN, Buller H, Gallus A, Hunt BJ, Hylek EM, Kakkar A, Konstantinides SV, McCumber M, Ozaki Y, Wendelboe A, Weitz JI; ISTH Steering Committee for World Thrombosis Day. Thrombosis: a major contributor to global disease burden. Arterioscler Thromb Vasc Biol 2014;34:2363-2371.
13. Pemmaraju N, Gerds AT, Yu J, Parasuraman S, Shah A, Xi A, Kumar S, Scherber RM, Verstovsek S. Thrombotic events and mortality risk in patients with newly diagnosed polycythemia vera or essential thrombocythemia. Leuk Res 2022;115:106809.
14. Ageno W, Becattini C, Brighton T, Selby R, Kamphuisen PW. Cardiovascular risk factors and venous thromboembolism: a meta-analysis. Circulation 2008;117:93-102.
15. Brækkan SK, Hald EM, Mathiesen EB, Njølstad I, Wilsgaard T, Rosendaal FR, Hansen JB. Competing risk of atherosclerotic risk factors for arterial and venous thrombosis in a general population: the Tromso study. Arterioscler Thromb Vasc Biol 2012;32:487-491.
16. Opitz I, Patella M, Lauk O, Inci I, Bettex D, Horisberger T, Schüpbach R, Keller DI, Frauenfelder T, Kucher N, Granton J, Pfammatter T, de Perrot M, Ulrich S. Acute on Chronic Thromboembolic Pulmonary Hypertension: Case Series and Review of Management. J Clin Med 2022;11:4224.
17. Rajani AR, Hussain K, Baslaib FO, Radaideh GA. A unique presentation of four thrombotic events at a time. BMJ Case Rep 2012;2012:bcr2012007221.
18. Kujovich JL. Factor V Leiden thrombophilia. Genet Med 2011;13:1-16.
19. Lavorini F, Di Bello V, De Rimini ML, Lucignani G, Marconi L, Palareti G, Pesavento R, Prisco D, Santini M, Sverzellati N, Palla A, Pistolesi M. Diagnosis and treatment of pulmonary embolism: a multidisciplinary approach. Multidiscip Respir Med 2013;8:75.
Files | ||
Issue | Vol 19 No 4 (2024): J Teh Univ Heart Ctr | |
Section | Case Report(s) | |
DOI | https://doi.org/10.18502/jthc.v19i4.17618 | |
Keywords | ||
Thrombophilia Thrombosis Multimodal imaging Hematologic tests Coagulation protein disorders |
Rights and permissions | |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |