Management of high perinatal risk pregnancy with heterozygous Leiden mutation. A clinical case

Abstract

This article presents a clinical case of hereditary thrombophilia associated with the heterozygous FV Leiden mutation in a pregnant woman with a burdened obstetric history. The patient was admitted to the third group hospital with a diagnosis of pregnancy 27 weeks 6 days; burdened obstetric history; uterine scar; hereditary thrombophilia associated with heterozygous factor V mutation; stage 1 grade 1 risk 1 hypertension, controlled; grade 1 alimentary obesity; grade 1 diffuse (endemic) goiter, euthyroidism; and chronic gastritis, remission. Upon admission, the patient received Sol. Enoxaparini natrii at a dosage of 0.4 ml subcutaneously twice a day, but according to the thrombodynamics test, thrombotic readiness remained. The purpose of hospitalization was to select anticoagulant therapy in a patient at high risk of perinatal loss. We found from the anamnesis that the woman’s first pregnancy ended in operative delivery on time due to progressive severe premature detachment of a normally located placenta and intrapartum fetal death.

Together with hematologists, we selected the optimal anticoagulant therapy for this patient as follows: Sol. Enoxaparini natrii at a dosage of 0.8 ml subcutaneously in the morning, then Sol. Enoxaparini natrii 0.4 ml subcutaneously in the evening, and Tab. Acidi acetylsalicylici 0.15. During this therapy, positive dynamics was noted, with normal coagulation observed during a thrombodynamic study. After selecting anticoagulant therapy, the woman was discharged from the hospital under the supervision of an obstetrician-gynecologist at the antenatal clinic and a hematologist at the Clinical Medical Center, Chita, Russia. Antenatal hospitalization was planned at 37 weeks of pregnancy. The patient was delivered by urgent caesarean section due to premature rupture of membranes at 35 weeks 1 day, given the aggravated anamnesis in this patient with the uterine scar. A live premature girl was born weighing 2410 g, 44 cm tall with an Apgar score of 8 / 8 points. In the postpartum period, given the high risk of thromboembolic complications (3 points), the patient was prescribed Sol. Enoxaparinum natrium at a dosage of 0.4 ml subcutaneously once per day for six weeks after delivery.

The presented clinical case of pregnancy and childbirth demonstrates the importance of personalization in modern medicine.

Keywords

thrombophilia / premature detachment of normally located placenta / antenatal fetal death / thrombosis / anticoagulant therapy

References

[1] Venoznye oslozhneniya vo vremya beremennosti i poslerodovom periode. Akusherskaya tromboemboliya. Klinicheskie rekomendatsii (protokol lecheniya). Ministerstvo zdravookhraneniya Rossiiskoi Federatsii. 2022. (In Russ.) [cited 2023 Aug 21]. Available from: https://cr.minzdrav.gov.ru/schema/723_1

[2] Венозные осложнения во время беременности и послеродовом периоде. Акушерская тромбоэмболия. Клинические рекомендации (протокол лечения) // Министерство здравоохранения Российской Федерации. 2022 [дата обращения 21.08.2023]. Доступ по ссылке: https://cr.minzdrav.gov.ru/schema/723_1

[3] Markovsky AV. Frequency of inherited thrombophilia gene polymorphism in women with reproductive health disorders. Aterotromboz/Atherothrombosis. 2018;(1):70–75. (In Russ.) DOI: 10.21518/2307-1109-2018-1-70-75

[4] Марковский А.В. Частота полиморфизма генов наследственной тромбофилии у женщин с нарушениями репродуктивного здоровья // Атеротромбоз. 2018. № 1. С. 70–75. DOI: 10.21518/2307-1109-2018-1-70-75

[5] Ivanov DO. Rukovodstvo po perinatologii. Saint Petersburg: Informnavigator; 2019. (In Russ.)

[6] Иванов Д.О. Руководство по перинатологии. Санкт-Петербург: Информнавигатор, 2019.

[7] Dautaj A, Krasi G, Bushati V, et al. Hereditary thrombophilia. Acta Biomed. 2019;90(10-S):44–46. DOI: 10.23750/abm.v90i10-S.8758

[8] Dautaj A., Krasi G., Bushati V., et al. Hereditary thrombophilia // Acta Biomed. 2019. Vol. 90. No. 10-S. P. 44–46. DOI: 10.23750/abm.v90i10-S.8758

[9] Khalife S, Geitani R. Association of inherited thrombophilia with recurrent pregnancy loss in a population of lebanese women: a case control study. Int J Fertil Steril. 2022;16(3):247–251. DOI: 10.22074/ijfs.2022.540950.1205

[10] Khalife S., Geitani R. Association of inherited thrombophilia with recurrent pregnancy loss in a population of lebanese women: a case control study // Int. J. Fertil. Steril. 2022. Vol. 16, No. 3. P. 247–251. DOI: 10.22074/ijfs.2022.540950.1205

[11] Colucci G, Tsakiris DA. Thrombophilia screening revisited: an issue of personalized medicine. J Thromb Thrombolysis. 2020;49(4):618–629. DOI: 10.1007/s11239-020-02090-y

[12] Colucci G., Tsakiris D.A. Thrombophilia screening revisited: an issue of personalized medicine // J. Thromb. Thrombolysis. 2020. Vol. 49. No. 4. P. 618–629. DOI: 10.1007/s11239-020-02090-y

[13] Vrotniakaite-Bajerciene K, Tritschler T, Jalowiec KA, et al. Thrombophilia impact on treatment decisions, subsequent venous or arterial thrombosis and pregnancy-related morbidity: a retrospective single-center cohort study. J Clin Med. 2022;11(14). DOI: 10.3390/jcm11144188

[14] Vrotniakaite-Bajerciene K., Tritschler T., Jalowiec K.A., et al. thrombophilia impact on treatment decisions, subsequent venous or arterial thrombosis and pregnancy-related morbidity: a retrospective single-center cohort study // J. Clin. Med. 2022. Vol. 11. No. 14. P. 4188. DOI: 10.3390/jcm11144188

[15] Shehata H, Ali A, Silva-Edge M, et al. Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature. BMJ Open. 2022;12(7). DOI: 10.1136/bmjopen-2021-059519

[16] Shehata H., Ali A., Silva-Edge M., et al. Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature // BMJ Open. 2022. Vol. 12. No. 7. DOI: 10.1136/bmjopen-2021-059519

[17] Linehan LA, San Lazaro Campillo I, Hennessy M, et al. Reproductive outcomes following recurrent first-trimester miscarriage: a retrospective cohort study. Hum Reprod Open. 2022;2022(4). DOI: 10.1093/hropen/hoac045

[18] Linehan L.A., San Lazaro Campillo I., Hennessy M., et al. Reproductive outcomes following recurrent first-trimester miscarriage: a retrospective cohort study // Hum. Reprod. Open. 2022. Vol. 2022. No. 4. DOI: 10.1093/hropen/hoac045

[19] Balandina AN, Koltsova EM, Shibeko AM, et al. Thrombodynamics: a new method to the diagnosis of hemostasis system disorders. Pediatric Hematology/Oncology and Immunopathology. 2018;17(4):114–126. DOI: 10.24287/1726-1708-2018-17-4-114-126

[20] Баландина А.Н., Кольцова Е.М., Шибеко А.М., и др. Тромбодинамика: новый подход к нарушениям системы гемостаза // Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2018. Т. 17. № 4. С. 114–126. DOI: 10.24287/1726-1708-2018-17-4-114-126

[21] Hamulyák EN, Scheres LJ, Marijnen MC, et al. Aspirin or heparin or both for improving pregnancy outcomes in women with persistent antiphospholipid antibodies and recurrent pregnancy loss. Cochrane Database Syst Rev. 2020;5(5). DOI: 10.1002/14651858.CD012852.pub2

[22] Hamulyák E.N., Scheres L.J., Marijnen M.C., et al. Aspirin or heparin or both for improving pregnancy outcomes in women with persistent antiphospholipid antibodies and recurrent pregnancy loss // Cochrane Database Syst. Rev. 2020. Vol. 5. No. 5. DOI: 10.1002/14651858.CD012852.pub2

[23] Normal’naya beremennost’. Klinicheskie rekomendatsii (protokol lecheniya). Ministerstvo zdravookhraneniya Rossiiskoi Federatsii. 2020. (In Russ.) [cited 2023 Aug 21]. Available from: https://cr.minzdrav.gov.ru/schema/288_1

[24] Нормальная беременность. Клинические рекомендации (протокол лечения) // Министерство здравоохранения Российской Федерации. 2020 [дата обращения 21.08.2023]. Доступ по ссылке: https://cr.minzdrav.gov.ru/schema/288_1

RIGHTS & PERMISSIONS

Eсо-Vector