A clinical case of thrombotic complications in a patient with hereditary thrombophilia and pulmonary arteriovenous malformation


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Abstract

Background. Currently, strokes, especially in young patients, are a significant medical and social problem. Differential diagnosis of the causes of stroke development in young patients is important from the point of view of the prevention of recurrent events. Description of the clinical case. This article examines a clinical case of multiple thrombotic events in a young woman with congenital thrombophilia (heterozygous FII [prothrombin] gene mutation) in combination with pulmonary arteriovenous malformation. Conclusion. A comprehensive examination and determining the mechanisms of thrombosis development made it possible to determine the individual risk factors, treatment tactics for the patient, which dramatically reduced the risk of recurrent cerebrovascular accidents. The identification of hereditary disorders determined not only the possibility of secondary prevention of the disease in the patient, but also the dynamic follow-up and primary prevention for her children.

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About the authors

M. I Ivanova

North-Western State Medical University n.a. I.I. Mechnikov

Email: ivanovamaiiaig@mail.iu

P. P Ikonnikov

City Multidisciplinary Hospital № 2, St. Petersburg

D. S Maznev

City Multidisciplinary Hospital № 2, St. Petersburg

A. A Kozak

North-Western State Medical University n.a. I.I. Mechnikov

P. V Lisukova

North-Western State Medical University n.a. I.I. Mechnikov

References

  1. Hart R.G., Diener H.C., Connolly S.J. Embolic strokes of undetermined source: support for a new clinical construct - authors' reply Lancet. Neurol. 2014;13(10):967. doi: 10.1016/S1474-4422(14)70197-8.
  2. Бокарев И.Н., Попова Л.В. Что такое тромбофилии сегодня? Клиническая медицина. 2013;91(12):4-9.
  3. Российские клинические рекомендации по диагностике, лечению и профилактике венозных тромбоэмболических осложнений (ВТЭО). Флебология. 2015;9(2). [Russian clinical recommendations for diagnosis, treatment and prevention of venous thromboembolic events. Flebologiya. 2015;9(2). (In Russ.).].
  4. Lijfering W.M., Middeldorp S., Veeger N.J.G.M., et al. Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and Prothrombin G20210A. Circulation. 2010;121:1706-12. doi: 10.1161/CIRCJJLATI0NAHA.109.906347.
  5. Miranda-Vilela A.L. Role of polymorphisms in factor V (FV Leiden), prothrombin, plasminogen activator inhibitor type-1 (PAI-1), methylenetetrahydrofolate reductase (MTHFR) and cystathionine-synthase (CBS) genes as risk factors for thrombophilias. Mini Rev Med Chem. 2012;12:997-1006. Doi: 10.2174/ 138955712802762338.
  6. Sousa S., Costa N.V, Carmona C., et al. Recurrent Stroke in a Young Woman with a Single Pulmonary Arteriovenous Fistula: An Unusual Association. Case Rep Neurol. 2017;9(3):293-98. doi: 10.1159/000484682.
  7. Паршин В.Д., Бирюков Ю.В., Путецкий М.В. и др. Хирургическое и эндоваскулярное лечение легочных артериовенозных мальформаций. Хирургия. 2013;10:4-11.
  8. Пизова Н.В. Тромбофилии: генетические полиморфизмы и сосудистые катастрофы. М., 2013. 248 с. [Pizova N.V. Thrombophilia: genetic polymorphisms and vascular catastrophes. M., 2013. 248р. (In Russ.)].
  9. Ng K.W.P, Loh PK., Sharma VK. Role of Investigating Thrombophilic Disorders in Young Stroke. Stroke. Res Treatment. 2011;2011(Article ID 670138):9.
  10. Pritchard A.M., Hendrix PW., Paidas M.J. Hereditary Thrombophilia and Recurrent Pregnancy Loss. Clin Obstet Gynecol. 2016;59:487-97. Doi: 10.1097/ GRF.0000000000000226.
  11. Lippi G., Franchini M., Targher G. Arterial thrombus formation in cardiovascular disease. Nat Rev Cardiol. 2011;8(9):502-12. doi: 10.1038/ nrcardio.2011.91.
  12. Bezemer I.D. der Meer F.J., Eikenboom J.C., et al. The value of family history as a risk indicator for venous thrombosis. Arch Intern Med. 2009;169:610-15. doi: 10.1001/archinternmed.2008.589.
  13. Lonneke M.L., et al. Screening for coagulation disorders in patients with ischemic stroke. Exp Rev Neurother. 2010;10(8):1321-9. Doi: 10.1586/ ern.10.104.
  14. Полушин А.Ю., Одинак М.М., Янишевский С.Н. и др. Гипергомоцистеинемия - предиктор тяжести инсульта на фоне обширности повреждения мозгового вещества. Вестник Российской Военно-медицинской академии. 2013;4(44):89-94.
  15. Borissoff J.I., Spronk H.M., Heeneman S., ten Cate H. Is thrombin a key player in the "coagulation atherogenesis" maze? Cardiovasc Res. 2009;82:392-403.

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