КЛИНИЧЕСКИЙ СЛУЧАЙ ОСТРОГО ТРОМБОЗА ВЕН У ФУТБОЛИСТА С НАСЛЕДСТВЕННОЙ ПРЕДРАСПОЛОЖЕННОСТЬЮ В УСЛОВИЯХ ЖАРКОГО ВЛАЖНОГО КЛИМАТА
Аннотация
Цель: определить генетические предпосылки клинического случая окклюзионного тромбоза правых подключичной и подмышечной вен. Материалы и методы. Патология была выявлена при помощи ультразвуковой допплерографии. Исследование полиморфизмов в генах факторов свертывания крови проводилось методом пиросеквенирования посредством готовых коммерческих панелей. Результаты. Окклюзионный тромбоз правых подключичной и подмышечной вен верхней конечности развился на фоне наличия точечных мутаций в генах фактора свертываемости VII (F7, rs6046), ингибитора активатора плазминогена (SERPINE1, rs1799768) и гене, кодирующем продукцию тромбоцитарного гликопротеина 1b (GP1BA, rs6065), что привело к увеличению продукции этих факторов и скорости адгезии тромбоцитов, что совместно с неблагоприятными климатическими условиями способствовало возникновению тромбоза. Заключение. Своевременное выявление подобных случаев позволит снизить риск возникновения опасных состояний, например, тромбоэмболии легочной артерии или сосудов перикарда.
Литература
2. Chang W.A., Sheu C.C., Liu K.T. et al. Identification of Mutations in SLC4A1, GP1BA and HFE in a Family with Venous Thrombosis of Unknown Cause by Next-generation Sequencing. Experimental and Therapeutic Medicine, 2018, vol. 16, no. 5, pp. 4172–4180. DOI: 10.3892/etm.2018.6693
3. Di Blasi S., Pintacuda S., Ferotti N. et al. Influence of High Environmental Temperature on Various Parameters of Blood Coagulation in Healthy Subjects and in Thrombosis Risk Patients. Minerva Medica, 1987, vol. 78, no. 22, pp. 1655–1663.
4. Deng A., Gocke C.D., Hess J. et al. Livedoid Vasculopathy Associated with Plasminogen Activator Inhibitor-1 Promoter Homozygosity (4G/4G) Treated Successfully with Tissue Plasminogen Activator. Archives of Dermatology, 2006, vol. 142, no. 11, pp. 1466–1469. DOI: 10.1001/archderm.142.11.1466
5. Di Paola J., Jugessur A., Goldman T. et al. Platelet Glycoprotein I(b)alpha and Integrin Al-pha2 Beta1 Polymorphisms: Gene Frequencies and Linkage Disequilibrium in a Population Diversity Panel. Journal of Thrombosis and Haemostasis, 2005, vol. 3, no. 7, pp. 1511–1521. DOI: 10.1111/j.1538-7836.2005.01273.x
6. Druk I.V., Drokina O.V., Smyalovsky D.V. et al. Dissection of the Internal Carotid Artery in a Patient with Connective Tissue Dysplasia Having Risk Variants of Several Candidate Genes. Korsakov Journal of Neurology and Psychiatry, 2019, vol. 119, no. 12, pp. 5–12. DOI: 10.17116/jnevro 20191191225
7. Garg V., Poon G., Tan A., Boon K. Paget-Schroetter Syndrome as a Result of 1st Rib Stress Fracture due to Gym Activity Presenting with Urschel's Sign – A Case Report and Review of Literature. International Journal of Surgery, 2018, vol. 49, pp. 81–86. DOI: 10.1016/j.ijscr.2018.05.029
8. Gharagozloo F., Meyer M., Tempesta B. et al. Proposed Pathogenesis of Paget-Schroetter Disease: Impingement of the Subclavian Vein by a Congenitally Malformed Bony Tubercle on the First Rib. Journal of Clinical Pathology, 2012, vol. 65, no. 3, pp. 262–266. DOI: 10.1136/jclinpath-2011-200479
9. Gostimirovic M., Novakovic R., Rajkovic J. et al. The Influence of Climate Change on Human Cardiovascular Function. Archives of Environmental and Occupational Health, 2020, vol. 75, no. 7, pp. 406–414. DOI: 10.1080/19338244.2020.1742079
10. Huang H., Long W., Zhao W. et al. Polymorphism of R353Q (rs6046) in Factor VII and the Risk of Myocardial Infarction: A Systematic Review and Meta-analysis. Medicine (Baltimore), 2018, vol. 97, no. 39, e12566. DOI: 10.1097/MD.0000000000012566
11. Illig K.A., Doyle A.J. A Comprehensive Review Paget Schroetter Syndrome. Journal of Vascular Surgery, 2010, vol. 51, no. 6, pp. 1538–1547. DOI: 10.1016/j.jvs.2009.12.022
12. Kruthika-Vinod T.P., Nagaraja D., Christopher R. Coagulation Factor VII R353Q Polymorphism and the Risk Thrombosis. Journal of Clinical Neuroscience, 2012, vol. 19, no. 1, pp. 190–191. DOI: 10.1016/j.jocn.2011.05.029
13. Lindman A.S., Pedersen J.I., Arnesen H. et al. Coagulation Factor VII, R353Q Polymorphism, and Serum Choline-containing Phospholipids in Males at High Risk for Coronary Heart Disease. Thromb Research, 2004, vol. 113, no. 1, pp. 57–65. DOI: 10.1016/j.thromres.2004.02.00
14. Liu J.W., Chen D.Q. Genetic Polymorphisms in the FVII Gene is Associated with Lower Extremity Deep Venous Thrombosis: A Case-control Study. Journal of Cellular Biochemistry, 2018, vol. 119, no. 8, pp. 6715–6722. DOI: 10.1002/jcb.26860
15. Li F., Hu S., Zhou X. et al. Association Between R353Q (rs6046) Polymorphism in Factor VII with Coronary Heart Disease. International Heart Journal, 2020, vol. 61, no. 4, pp. 641–650. DOI: 10.1536/ihj.19-219
16. Middeldorp S., van Hylckama Vlieg A. Does Thrombophilia Testing Help in the Clinical Management of Patients? British Journal of Haematology, 2008, vol. 143, no. 3, pp. 321–335. DOI: 10.1111/j.1365-2141.2008.07339.x
17. Sayın A., Güngör H., Bilgin M., Ertürk U. Pagetvon Schrötter Syndrome: Upper Extremity Deep Vein Thrombosis After Heavy Exercise. Turk Kardiyoloji Dernegi Arsivi, 2012, vol. 40, no. 4, pp. 354–357. DOI: 10.5543/tkda.2012.02212
18. Shaul C., Blotnick S., Deutsch L. et al. The Impact of R353Q Genetic Polymorphism in Coagulation Factor VII on the Initial Anticoagulant Effect Exerted by Warfarin. European Journal of Clinical Pharmacology, 2019, vol. 75, no. 3, pp. 343–350. DOI: 10.1007/s00228-018-2594-2
19. Shiva C., Saini M. Paget-von Schroetter Syndrome: Upper Extremity Deep Vein Thrombosis after Continuous Lifting of Heavy Weight. Journal of the Association of Physicians of India, 2015, vol. 63, no. 8, pp. 84–85. PMID: 27604444
20. Tsantes A.E., Nikolopoulos G.K., Bagos P.G. et al. Association between the Plasminogen Activator Inhibitor-1 4G/5G Polymorphism and Venous Thrombosis. A Meta-analysis. Journal of Thrombosis and Haemostasis, 2007, vol. 97, no. 6, pp. 907–913.
21. Vannucchi A.M., Guglielmelli P. JAK2 Mutation-related Disease and Thrombosis. Seminars in Thrombosis and Hemostasis, 2013, vol. 39, no. 5, pp. 496–506. DOI: 10.1055/s-0033-1343890
22. Wang J., Wang C., Chen N. et al. Association between the Plasminogen Activator Inhibitor-1 4G/5G Polymorphism and Risk of Venous Thromboembolism: a Meta-analysis. Thromb Research, 2014, vol. 134, no. 6, pp. 1241–1248. DOI: 10.1016/j.thromres.2014.09.035
23. Zurkiya O., Ganguli S., Kalva S.P. et al. ACR Appropriateness Criteria® Thoracic Outlet Syndrome. Journal of the American College of Radiology, 2020, vol. 17, no. 5S, pp. 323–334. DOI: 10.1016/j.jacr.2020.01.029
References
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3. Di Blasi S., Pintacuda S., Ferotti N. et al. Influence of High Environmental Temperature on Various Parameters of Blood Coagulation in Healthy Subjects and in Thrombosis Risk Patients. Minerva Medica, 1987, vol. 78, no. 22, pp. 1655–1663.
4. Deng A., Gocke C.D., Hess J. et al. Livedoid Vasculopathy Associated with Plasminogen Activator Inhibitor-1 Promoter Homozygosity (4G/4G) Treated Successfully with Tissue Plasminogen Activator. Archives of Dermatology, 2006, vol. 142, no. 11, pp. 1466–1469. DOI: 10.1001/archderm.142.11.1466
5. Di Paola J., Jugessur A., Goldman T. et al. Platelet Glycoprotein I(b)alpha and Integrin Al-pha2 Beta1 Polymorphisms: Gene Frequencies and Linkage Disequilibrium in a Population Diversity Panel. Journal of Thrombosis and Haemostasis, 2005, vol. 3, no. 7, pp. 1511–1521. DOI: 10.1111/j.1538-7836.2005.01273.x
6. Druk I.V., Drokina O.V., Smyalovsky D.V. et al. Dissection of the Internal Carotid Artery in a Patient with Connective Tissue Dysplasia Having Risk Variants of Several Candidate Genes. Korsakov Journal of Neurology and Psychiatry, 2019, vol. 119, no. 12, pp. 5–12. DOI: 10.17116/jnevro 20191191225
7. Garg V., Poon G., Tan A., Boon K. Paget-Schroetter Syndrome as a Result of 1st Rib Stress Fracture due to Gym Activity Presenting with Urschel's Sign – A Case Report and Review of Literature. International Journal of Surgery, 2018, vol. 49, pp. 81–86. DOI: 10.1016/j.ijscr.2018.05.029
8. Gharagozloo F., Meyer M., Tempesta B. et al. Proposed Pathogenesis of Paget-Schroetter Disease: Impingement of the Subclavian Vein by a Congenitally Malformed Bony Tubercle on the First Rib. Journal of Clinical Pathology, 2012, vol. 65, no. 3, pp. 262–266. DOI: 10.1136/jclinpath-2011-200479
9. Gostimirovic M., Novakovic R., Rajkovic J. et al. The Influence of Climate Change on Human Cardiovascular Function. Archives of Environmental and Occupational Health, 2020, vol. 75, no. 7, pp. 406–414. DOI: 10.1080/19338244.2020.1742079
10. Huang H., Long W., Zhao W. et al. Polymorphism of R353Q (rs6046) in Factor VII and the Risk of Myocardial Infarction: A Systematic Review and Meta-analysis. Medicine (Baltimore), 2018, vol. 97, no. 39, e12566. DOI: 10.1097/MD.0000000000012566
11. Illig K.A., Doyle A.J. A Comprehensive Review Paget Schroetter Syndrome. Journal of Vascular Surgery, 2010, vol. 51, no. 6, pp. 1538–1547. DOI: 10.1016/j.jvs.2009.12.022
12. Kruthika-Vinod T.P., Nagaraja D., Christopher R. Coagulation Factor VII R353Q Polymorphism and the Risk Thrombosis. Journal of Clinical Neuroscience, 2012, vol. 19, no. 1, pp. 190–191. DOI: 10.1016/j.jocn.2011.05.029
13. Lindman A.S., Pedersen J.I., Arnesen H. et al. Coagulation Factor VII, R353Q Polymorphism, and Serum Choline-containing Phospholipids in Males at High Risk for Coronary Heart Disease. Thromb Research, 2004, vol. 113, no. 1, pp. 57–65. DOI: 10.1016/j.thromres.2004.02.00
14. Liu J.W., Chen D.Q. Genetic Polymorphisms in the FVII Gene is Associated with Lower Extremity Deep Venous Thrombosis: A Case-control Study. Journal of Cellular Biochemistry, 2018, vol. 119, no. 8, pp. 6715–6722. DOI: 10.1002/jcb.26860
15. Li F., Hu S., Zhou X. et al. Association Between R353Q (rs6046) Polymorphism in Factor VII with Coronary Heart Disease. International Heart Journal, 2020, vol. 61, no. 4, pp. 641–650. DOI: 10.1536/ihj.19-219
16. Middeldorp S., van Hylckama Vlieg A. Does Thrombophilia Testing Help in the Clinical Management of Patients? British Journal of Haematology, 2008, vol. 143, no. 3, pp. 321–335. DOI: 10.1111/j.1365-2141.2008.07339.x
17. Sayın A., Güngör H., Bilgin M., Ertürk U. Pagetvon Schrötter Syndrome: Upper Extremity Deep Vein Thrombosis After Heavy Exercise. Turk Kardiyoloji Dernegi Arsivi, 2012, vol. 40, no. 4, pp. 354–357. DOI: 10.5543/tkda.2012.02212
18. Shaul C., Blotnick S., Deutsch L. et al. The Impact of R353Q Genetic Polymorphism in Coagulation Factor VII on the Initial Anticoagulant Effect Exerted by Warfarin. European Journal of Clinical Pharmacology, 2019, vol. 75, no. 3, pp. 343–350. DOI: 10.1007/s00228-018-2594-2
19. Shiva C., Saini M. Paget-von Schroetter Syndrome: Upper Extremity Deep Vein Thrombosis after Continuous Lifting of Heavy Weight. Journal of the Association of Physicians of India, 2015, vol. 63, no. 8, pp. 84–85. PMID: 27604444
20. Tsantes A.E., Nikolopoulos G.K., Bagos P.G. et al. Association between the Plasminogen Activator Inhibitor-1 4G/5G Polymorphism and Venous Thrombosis. A Meta-analysis. Journal of Thrombosis and Haemostasis, 2007, vol. 97, no. 6, pp. 907–913.
21. Vannucchi A.M., Guglielmelli P. JAK2 Mutation-related Disease and Thrombosis. Seminars in Thrombosis and Hemostasis, 2013, vol. 39, no. 5, pp. 496–506. DOI: 10.1055/s-0033-1343890
22. Wang J., Wang C., Chen N. et al. Association between the Plasminogen Activator Inhibitor-1 4G/5G Polymorphism and Risk of Venous Thromboembolism: a Meta-analysis. Thromb Research, 2014, vol. 134, no. 6, pp. 1241–1248. DOI: 10.1016/j.thromres.2014.09.035
23. Zurkiya O., Ganguli S., Kalva S.P. et al. ACR Appropriateness Criteria® Thoracic Outlet Syndrome. Journal of the American College of Radiology, 2020, vol. 17, no. 5S, pp. 323–334. DOI: 10.1016/j.jacr.2020.01.029
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