Acute myocardial infarction and pulmonary embolism in a young serviceman with a mutation of the plasminogen activator inhibitor gene type 1

The clinical case of acute myocardial infarction and pulmonary embolism in a young soldier with the first occurred protracted attack of angina. The survey found the link between these conditions and gene mutation of type 1 plasminogen activator inhibitor that plays a key role in fibrinolysis by inhibiting the formation of plasmin and leading to slowdown in fibrinolysis processes and a longer-term persistence of blood clot. It is proven that homozygous 4G/4G mutation found in the patient results in the development of arterial and venous thrombosis at a young age and is associated with a tendency to relapse. It clearly shows that hereditary thrombophilia is characterized by the absence of obvious provocative factor and single universal diagnostic algorithm; the diagnosis is based on the comprehensive evaluation of laboratory data.

1. The Demographic Yearbook of Russia 2019. Moscow: Rosstat, 2019. 252 р. (In Russ.).

2. Agewall S., Beltrame J.F., Reynolds H.R. ESC working group position paper on myocardial infarction with non-obstructive coronary arteries // European Heart Journal. 2017. No. 3 (38). p. 143–153. doi: 10.1093/eurheartj/ehw149.

3. Thygesen K., Alpert J.S., Jaffe A.S. Fourth universal definition of myocardial infarction (2018) // European Heart Journal. 2019. No. 3 (40). p. 237–269. doi: 10.1093/eurheartj/ehy462.

4. Ryabov V.V., Syrkina A.G., Belokopytova N.V. Acute coronary syndrome with segment elevation ST elevation acute coronary syndrome in non-obstructive lesion of coronary arteries: data from the registry Record-3 // Russian Journal Cardiology. 2017. No. 11 (22). pp. 15–21 (In Russ.). doi: 10.15829/1560-4071-2017-11-15-21.

5. Yakushin S.S. Myocardial Infarction with Nonobstructive Coronary Arteries (МINОСА) – a Trendy Term or a New Diagnostic Concept? Rational Pharmacotherapy in Cardiology. 2018. No. 5 (14). pp. 765–773 (In Russ.). doi: 10.20996/1819-6446-2018-14-5-765-773.

6. Pasupathy S., Air T., Dreyer R.P. Systematic review of patients presenting with suspected myocardial infarction and nonobstructive coronary arteries // Circulation. 2015. No. 10 (131). p. 861–870. doi: 10.1161/ CIRCULATIONAHA.114.011201.

7. Dyatlov N.V., Lykov Yu.V., Zhelnov V.V. Some peculiarities of acute myocardial infarction pathogenesis in non-obstructive coronary arteries. Medical News of North Caucasus. 2017. No. 3 (12). pp. 260–265 (In Russ.). doi: 10.14300/mnnc.2017.12078

8. Konstantinides S.V., Meyer G., Beccatini C. 2019 ESC Guidelines for the diagnosis and management of acute pulmonary embolism developed in collaboration with the European Respiratory Society (ERS) // European Heart Journal. 2019. Vol. 41. p. 543–603. doi: 10.1093/eurheartj/ehz405.

9. Bokarev I.N., Popova L.V. What is thrombophilia today? Сlinical medicine. 2013. No. 12 (91). pp. 4–8 (In Russ.).

10. Kataev P.V., Timchenko L.V., Zhadan O.N. Hereditary thrombophilia and ischemic stroke in young adult. Innovative medicine of Kuban. 2018. No. 3. pp. 11–15 (In Russ.).

11. Momot A.P. The problem of thrombophilia in clinical practice. Russian Journal of Pediatric Hematology and Oncology. 2015. No. 1. pp. 36–48 (In Russ.). doi: 10.17650/2311-1267-2015-1-36-48.

12. Filatova E.A., Esenina T.V., Mishkurova K.M. Hereditary haematogenous thrombophilia manifesting as pulmonary embolism. Amur Medical Journal. 2018. No. 1–2. pp. 25–29 (In Russ.). doi:10.22.448/amj.2018.1-2.25-29.

13. Bokeria L.A., Zatevakhin I.I., Kirienko A.I., et al. Russian clinical guidelines for the diagnosis, treatment and prevention of venous thromboembolic complications // Phlebology. 2015. No. 4, issue 2. pp. 1-52 (In Russ.)

14. Søgaard K.K., Schmidt M., Pedersen L., et al. 30-year mortality after venous thromboembolism: a population-based cohort study // Circulation. 2014. No. 10 (130). p. 829–836. doi: 10.1161/circulationaha.114.009107.

15. Zhdanova L.V., Patrushev L.I., Dolgikh V.V. Polymorphism of genes responsible for thrombophilia and their influence on the development of thrombosis in children. Bulletin of the VSNC SB RAMS. 2013. No. 5 (92). pp. 115–118 (In Russ.).

16. Pizova N.V. Ischemic stroke and inherited thrombophilias. Annals of Clinical and Experimental Neurology. 2017. No. 4 (11). pp. 71–80 (In Russ.). doi: 10.18454/ACEN.2017.4.8

17. Subbotovskaya A.I., Tsvetovskaya G.A., Slepukhina A.A. Plasminogen activator inhibitor gene polymorphism in evaluation of the various localization thrombosis risks (pilot study). Russian Journal of Cardiology. 2015. No. 10 (20). pp. 50–53. (In Russ.). doi: 10.15829/1560-4071-2015-10-50-53

18. Wang J., Wang C., Chen N. Association between the plasminogen activator inhibitor-1 4G/5G polymorphism and risk of venous thromboembolism: a meta-analysis // Thrombosis Research. 2014. No. 6 (134). p. 1241–1248. doi: 10.1016/j.thromres.2014.09.035.

19. Sizov A.V., Vorob’eva E.E. Thrombosis of pulmonary artery branches in a patient with genetic thrombophilia. University therapeutic journal 2022. No. 1 (4). pp. 44–49 (In Russ.)