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HEREDITARY THROMBOPHILIA AND TRIGGERS OF THROMBOTIC CONDITIONS IN CHILDREN

https://doi.org/10.52485/10.52485/19986173_2024_4_78

Abstract

Children have thrombosis in the presence of thrombophilia genes. A trigger mechanism is needed for the thrombotic process. Triggers are known in adult patients, but there is little information in children. The article contains a scientific review on thrombophilia. The general provisions and data from some studies by Russian and foreign authors are described. The article focuses on thrombotic conditions and triggers in children.

About the Author

A. S. Bogdanova
Far Eastern State Medical University
Russian Federation

Bogdanova A.S., Candidate of Medical Sciences, associate Professor, associate Professor of the Department of Hospital and Faculty Pediatrics with a course in Propaedeutics of childhood diseases

AuthorID: 721310 .

35 Muravyov-Amursky st., Khabarovsk, 680000



References

1. Bates S.M., Greer I.A., Pabinger I. et al. Venous thromboembolism, thrombophilia, antithrombotic therapy, and pregnancy: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). J. Chest. 2008. 133 (6). Рр.844–886.

2. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. J. Thrombosis et Diathesis Haemorrhagica. 1965. 13. 16–46.

3. Nicolaides A.N., Fareed J., Kakkar A.K. et al. Prevention and treatment of venous thromboembolism — International Consensus Statement. J. International Angiology. 2013. 32(2). 111–260.

4. American College of Obstetricians and Gynecologists Women’s Health Care Physicians. ACOG Practice Bulletin No. 138: Inherited thrombophilias in pregnancy. J. Obstetetrics and Gynecology. 2013. 122 (3). 706–723.

5. Dilley A., Austin H., Hooper W.C. et al. Prevalence of the prothrombin 20210 G-to-A variant in blacks: infants, patients with venous thrombosis, patients with myocardial infarction, and control subjects. J. of Laboratory and Clinical Medicine. 1998. 132 (6). 452–457.

6. Rosendaal F.R., Doggen C.J., Zivelin A. et al. Geographic distribution of the 20210 G to A prothrombin variant. J. Thrombosis and Haemostasis. 1998. 79 (4). 706–714.

7. Kapustin S.I., Blinov M.N., Papayan L.P., Selivanov E.A. Hereditary thrombophilia is a pressing problem in modern medicine. Meditsinskiy akademicheskiy zhurnal. 2006. 6. 1. 83–91. In Russian.

8. Ridker P.M., Miletich J.P., Hennekens C.H., Buring J.E. Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. J. JAMA pediatrics. 1997. 277 (16). 1305–1312.

9. Cooper D.N., Krawezak M. Venous thrombosis: from genes to clinical medicine. BIOS Scientific Publishers Ltd. 1997. 368.

10. Dizon-Townson D.S., Meline L., Nelson L.M. et al. Fetal carriers of the factor V Leiden mutation are prone to miscarriage and placental infarction. J. Obstetetrics and Gynecology. 1997. 177 (2) 402–408.

11. Simone B., De Stefano V., Leoncini E. et al. Risk of venous thromboembolism associated with single and combined effects of factor V Leiden, prothrombin 20210A and methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. Eur J. Epidemiology. 2013. 201. 28 (8). 621–668.

12. Momot A.P. The problem of thrombophilia in clinical practice. 2015. 2 (1). 36–48. In Russian.

13. Chang M.H., Lindegren M.L., Butler M.A. et al. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991–1994. J. Epidemiology. 2009. 169 (1). 54–66.

14. Nikolaeva M.G., Momot A.P., Mamaev A.N., Khorev N.G. et al. Thrombotic events in rare forms of genetic thrombophilia. Tromboz, gemostaz i reologiya. 2020. 4. 87–94. In Russian.

15. Strozenko L.A., Gordeev V.V., Lobanov Yu.F., Momot A.P. et al. Distribution of polymorphic options of genes of blood coagulation factors and gents of the folate metabolism in adolescents of the Altai Krai. Rossiiskii Pediatricheskii Zhurnal. 2015.18(4). 26–31. In Russian.

16. Ostlund A., Flaring U., Norberg A., Dahlberg A., Berner J. et al. Incidence of and risk factors for venous thrombosis in children with percutaneous non-tunnelled central venous catheters. Br J Anaesthesia. 2019. Sep. 123 (3). 316–324. https://pubmed.ncbi.nlm.nih.gov/31176448/ doi: 10.1016/j.bja.2019.04.055. Epub 2019 Jun 6.

17. Shumakova O.V., Morozova N.Ya., Burov A.A. et al. Features of hemostasis in children with congenital heart defects in the first 12 hours of life. Voprosy gematologii, onkologii i immunopatologii v pediatrii. 2019. 3. 29–34. In Russian.

18. Kuznik B.I., Maksimova O.G., Sturov V.G. Hemorrhagic and thrombotic diseases and syndromes in children. Pathogenesis, clinical features, diagnostics, therapy and prevention. Novosibirsk: Nauka. 2012. In Russian.

19. Soldatevnikova L.V., Komissarov K.A., Soldatenkov E.V., Minaeva M.V. et al. Thrombophilia in patients of the North-West region of Russia: classical and additional risk factors. Vestnik gematologii. 2021. 17. 4. 59–60. In Russian.

20. Sturov V.G., Chuprova A.V., Anmut S.Ya.. Dysfibrinogenemia: current state of the problem of diagnosis, verification, treatment. Tromboz, gemostaz i reologiya. 2003. 4 (16). 24–30. In Russian.

21. Spinillo A., Gardella B., Adamo L. et al. Pathologic placental lesions in early and late fetal growth restriction. Acta Obstet Gynecol Scand. 2019. 98 (12). 1585–94. https://pubmed.ncbi.nlm.nih.gov/31370094/ doi: 10.1111/aogs.13699.

22. Monagle P., Cuello K.A. Management of venous thromboembolism: treatment of pediatric venous thromboembolism. Blood. 2018. Nov 27. 2 (22). 3292-3316. https://translated.turbopages.org/proxy_u/ en-ru.ru.ffdf233e-677bc5f2-8f574799-74722d776562/ https/pubmed.ncbi.nlm.nih.gov/30482766/ doi:10.1182/bloodadvances.2018024786.

23. Kostyuchenko G.I., Barkagan Z.S., Kostyuchenko L.A. Hyperhomocysteinemia: frequency, age characteristics, methods of correction in patients with coronary heart disease. Tromboz, gemostaz i reologiya. 2003. 3 (15). 33–36. In Russian.

24. Zhdanova L.V., Patrushev L.I., Bimbaeva A.B.Zh. Hereditary thrombophilia as a risk factor for ischemic stroke in children. Vestnik Buryatskogo gosudarstvennogo universiteta. Meditsina i farmatsiya. 2017. 1. 85–89. In Russian.

25. Podsvirova E.V., Balakireva E.A., Romanova T.A. et al. A case of early diagnosis of hereditary thrombophilia in a 16-day-old child. Rossiyskii vestnik perinatologii i pediatrii. 2019. 64 (3). 82–86. In Russian.

26. Nikolaeva M.G. Reproductively significant implementation of the Leiden mutation and a personalized approach to the prevention of complicated pregnancy: [dissertatsiya Nikolaevoy Marii Gennad'evny dok. med. nauk]. Barnaul: «Altayskiy gosudarstvennyy meditsinskiy universitet» MZ RF. 2018. In Russian.

27. Cohen W., Castelli C., Suchon P. et al. Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles-NImes prediction model. J. Thrombosis and Haemostasis. 2014. 12 (2). 138–184.

28. Timp J.F., Braekkan S.K., Lijfering W.M. et al. Risk prediction of recurrent venous thrombosis; where are we now and what can we add? Journal of Thrombosis and Haemostasis. 2019. 17. 9. 1527–1534.

29. Ozolinya L.A., Patrushev L.I., Shpolyanskaya Yu.Yu. et al. Prevalence of mutations in the genes of factor V (G1691 A Leiden), prothrombin (G 20210A) and methylenetetrahydrofolate reductase (C677T) among pregnant women and their association with pathology. Tromboz, gemostaz i reologiya. 2001. 1 (5). 47–53. In Russian.

30. Idel'son L.I., Al'bert I.I., Rudenskiy B. et al. Combination of heterozygous carriage of the Leiden mutation of factor V blood coagulation with erythrocytosis as a cause of deep vein thrombosis of the thigh. Terapevticheskiy arkhiv. 2002. 2. 66–69. In Russian.

31. Papayan L.P., Papayan K.A., Rakova М.А. et al. Thrombosis as a multifactorial event in children on the example of a clinical case. Vestnik gematologii. 2019. 15. 3. 50–78. In Russian.

32. Strozenko L.A.,. Lobanov Yu.F, Kolesnikova M.A., Rychkova O.A., Tsyvkina L.P., Momot A.P. Risk factors in children with acute cerebral circulation disorders by ischemic type. Pediatria n.a. G.N. Speransky. 2020. 99 (2). 163–172. In Russian.

33. Braekkan S. K., Mathiesen E.B., Njolstad I. et al. Hematocri t and risk of venous thromboembolism in a general population. The Tromso study. Haematologica. 2010. 95. 270–275.

34. Nowak-Göttl U., Ommen H., Kenet G. Thrombophilia testing in children: What and when should be tested? Author links open overlay panel. 2018. April. 164. 75-78. https://www.sciencedirect.com/science/article/abs/pii/S0049384818302019.

35. Clark H.H., Ballester L., Whitworth H., Raffini L., Witmer Ch. Prevention of recurrent thrombotic events in children with central venous catheter-associated venous thrombosis. Blood. 2022. Jan 20. 139. (3). 452–460. https://www.sciencedirect.com/science/article/pii/S0006497121018206.

36. Mahajerin A., Betensky M., Goldenberg N. A. Thrombosis in children: approach to anatomic risrks, thrombophilia, prevention, and treatment. Hematology/Oncology Clinics of North Amtrica. 2019. 33 (3). June. 439–453. https://www.sciencedirect.com/science/article/abs/pii/S0889858819300255.

37. G. Colucci, D. A. Tsakiris. Thrombophilia screening revisited: an issue of personalized medicine. J. Thromb Thrombolisis. 2020. May. 49 (4): 618–629. https://pubmed.ncbi.nlm.nih.gov/32248336/ doi: 10.1007/s1239-020-02090-y.

38. Federal State Budgetary Institution "FNCC Dmitriy Rogachev DGOI of the Ministry of Health of the Russian Federation and the National Society of Pediatric Hematologists, Oncologists of Russia. Federal clinical guidelines for the diagnosis and treatment of thrombosis in children and adolescents. Moscow: 2015. 50. In Russian.


Review

For citations:


Bogdanova A.S. HEREDITARY THROMBOPHILIA AND TRIGGERS OF THROMBOTIC CONDITIONS IN CHILDREN. Transbaikalian Medical Bulletin. 2024;(4):78-85. (In Russ.) https://doi.org/10.52485/10.52485/19986173_2024_4_78

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