Masked polycythemia vera manifested by splanchnic venous thrombosis during pregnancy: a clinical case
M. Yu. Nadinskaia,
Kh. B. Kodzoeva,
M. A. Sokolova,
S. V. Apresyan,
E. Yu. Kryzhanovskaya,
A. A. Shchukina,
E. A. Kitsenko https://doi.org/10.17749/2313-7347/ob.gyn.rep.2022.288
Abstract
Ph-negative myeloproliferative disorders such as polycythemia vera (PV), essential thrombocythemia, and primary myelofibrosis are rare clonal hematopoietic diseases that typically occur at age over 50. Only 10–15% of PV cases are diagnosed during the reproductive years, most commonly manifested as splanchnic venous thrombosis (SVT). Here, we demonstrate a case of a 6-weeks pregnant woman with a history of stillbirth and miscarriage presented with SVT. A terminal ileal resection and right hemicolectomy were performed, as well as the appointment of low molecular weight heparin in the postoperative period was initiated that allowed the patient to continue the pregnancy and deliver a child. The JAK2 V617F mutation was detected and masked PV was diagnosed according to bone marrow findings. In this article, we discuss the etiology of SVT in adults and effect of JAK2 V617F mutation on pregnancy outcomes as well as summarize current knowledge about pregnancy outcomes in PV.
About the Authors
M. Yu. Nadinskaia
Sechenov University
Russian Federation
Russian Federation
MD, PhD, Associate Professor, Department of Propaedeutics of Internal Diseases, Gastroenterology and Hepatology, Sklifosovsky Institute of Clinical Medicine
Scopus Author ID: 6507949442. Researcher ID: T-9316-2019
8 bldg. 2, Trubetskaya Str., Moscow 119991, Russia
Kh. B. Kodzoeva
Sechenov University
Russian Federation
Russian Federation
MD, Postgraduate Student, Department of Propaedeutics of Internal Diseases, Gastroenterology and Hepatology, Sklifosovsky Institute of Clinical Medicine
Scopus Author ID: 57208035765. Researcher ID: P-6999-2018
8 bldg. 2, Trubetskaya Str., Moscow 119991, Russia
M. A. Sokolova
National Research Center for Hematology
Russian Federation
Russian Federation
MD, PhD, Senior Researcher, Consultative Hematology Department with a Day Hospital for Intensive High-Dose Chemotherapy
Scopus Author ID: 7101745419. Researcher ID: N-4843-2014
4 Novyi Zykovskiy Рroezd, Moscow 125167, Russia
S. V. Apresyan
Pirogov National Medical and Surgical Center;
Eramishantsev City Clinical Hospital
Russian Federation
Russian Federation
MD, Dr Sci Med, Professor, Department of Women's Diseases and Reproductive Health, Institute for Postgraduate Medical Education; Deputy Chief Physician for Obstetric and Gynecological Care
Scopus Author ID: 57208050125
70 Nizhnyaya Pervomaiskaya Str., Moscow 105203, Russia
15 Lenskaya Str., Moscow 129327, Russia
E. Yu. Kryzhanovskaya
Petrovsky National Research Centre of Surgery
Russian Federation
Russian Federation
MD, PhD, Senior Researcher, Department of Clinical Physiology, Instrumental and Radiation Diagnostics
Scopus Author ID: 57192997015
2 Abrikosovsky Lane, Moscow 119991, Russia
A. A. Shchukina
Petrovsky National Research Centre of Surgery
Russian Federation
Russian Federation
MD, Postgraduate Student, Laboratory of Emergency Surgery and Portal Hypertension
2 Abrikosovsky Lane, Moscow 119991, Russia
E. A. Kitsenko
Petrovsky National Research Centre of Surgery
Russian Federation
Russian Federation
MD, Dr Sci Med, Leading Researcher, Laboratory of Emergency Surgery and Portal Hypertension
Scopus Author ID: 6602462726
2 Abrikosovsky Lane, Moscow 119991, Russia
References
1. Griesshammer M., Sadjadian P. The BCR-ABL1-negative myeloproliferative neoplasms: a review of JAK inhibitors in the therapeutic armamentarium. Expert Opin Pharmacother. 2017;18(18):1929–38. https://doi.org/10.1080/14656566.2017.1404574.
2. Wenzinger C., Williams E., Gru A.A. Updates in the pathology of precursor lymphoid neoplasms in the revised fourth edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Curr Hematol Malig Rep. 2018;13(4):275–88. https://doi.org/10.1007/s11899-018-0456-8.
3. Palandri F., Mora B., Gangat N., Catani L. Is there a gender effect in polycythemia vera? Ann Hematol. 2021;100(1):11–25. https://doi.org/10.1007/s00277-020-04287-w.
4. Harrison C. Pregnancy and its management in the Philadelphia negative myeloproliferative diseases. Br J Haematol. 2005;129(3):293–306. https://doi.org/10.1111/j.1365-2141.2005.05400.x.
5. De Stefano V., Qi X., Betti S., Rossi E. Splanchnic vein thrombosis and myeloproliferative neoplasms: molecular-driven diagnosis and long-term treatment. Thromb Haemost. 2016;115(2):240–9. https://doi.org/10.1160/TH15-04-0326.
6. Spivak J.L. Polycythemia vera, the hematocrit, and blood-volume physiology. N Engl J Med. 2013;368(1):76–8. https://doi.org/10.1056/NEJMe1213283.
7. Guan X., Huang L., Li L. Acute mesenteric venous thrombosis in a pregnant woman at 35 weeks of gestation: a case report and review of the literature. BMC Pregnancy Childbirth. 2018;18(1):487. https://doi.org/10.1186/s12884-018-2126-1.
8. Abbassi-Ghanavati M., Greer L.G., Cunningham F.G. Pregnancy and laboratory studies: a reference table for clinicians. Obstet Gynecol. 2009;114(6):1326–31. https://doi.org/10.1097/AOG.0b013e3181c2bde8. Erratum in: Obstet Gynecol. 2010;115(2 Pt 1):387.
9. Rajani R., Björnsson E., Bergquist A. et al. The epidemiology and clinical features of portal vein thrombosis: a multicentre study. Aliment Pharmacol Ther. 2010;32(9):1154–62. https://doi.org/10.1111/j.1365-2036.2010.04454.x.
10. Nadinskaia M.Y., Kodzoeva K.B., Ulyanova K.A. et al. Risk factors associated with portal vein thrombosis in liver cirrhosis: а case-control study. [Faktory riska, associirovannye s trombozom vorotnoj veny pri cirroze pecheni: issledovanie sluchaj-kontrol']. Terapevticheskij avhiv. 2019;91(2):73–81. (In Russ.). https://doi.org/10.26442/00403660.2019.02.000153.
11. Arber D.A., Orazi A., Hasserjian R. et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–405. https://doi.org/10.1182/blood-2016-03-643544.
12. Pardanani A., Lasho T.L., Finke C. et al. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia. 2007;21(9):1960–3. https://doi.org/10.1038/sj.leu.2404810.
13. Lapoirie J., Contis A., Guy A. et al. Management and outcomes of 27 pregnancies in women with myeloproliferative neoplasms. J Matern Fetal Neonatal Med. 2020;33(1):49–56. https://doi.org/10.1080/14767058.2018.1484097.
14. Bertozzi I., Rumi E., Cavalloni C. et al. Pregnancy outcome and management of 25 pregnancies in women with polycythemia vera. Am J Hematol. 2018;93(9):E234–E235. https://doi.org/10.1002/ajh.25210.
15. Elli E.M., Diral E., Gambacorti-Passerini C. et al. Management and outcome of 11 pregnancies in women with polycythemia vera. Leuk Res. 2019;81:25–6. https://doi.org/10.1016/j.leukres.2019.04.003.
16. Wille K., Bernhardt J., Sadjadian P. et al. The management, outcome, and postpartum disease course of 41 pregnancies in 20 women with polycythemia vera. Eur J Haematol. 2021;107(1):122–8. https://doi.org/10.1111/ejh.13627.
17. Robinson S., Bewley S., Hunt B.J. et al. The management and outcome of 18 pregnancies in women with polycythemia vera. Haematologica. 2005;90:1477–83.
18. Griesshammer M., Andreoli A., Schauer S. et al. Outcome of 121 pregnancies in patients with polycythemia vera (PV). 21st EHA Annual Meeting. Copenhagen, Denmark, 2016.
19. Gangat N., Joshi M., Shah S. et al. Pregnancy outcomes in myeloproliferative neoplasms: A Mayo Clinic report on 102 pregnancies. Am J Hematol. 2020;95(5):E114–E117. https://doi.org/10.1002/ajh.25748.
20. Aggarwal N., Chopra S., Suri V. et al. Polycythemia vera and pregnancy: experience of four pregnancies in a single patient. Arch Gynecol Obstet. 2011;283(2):393–5. https://doi.org/10.1007/s00404-010-1446-9.
21. Dahabreh I.J., Jones A.V., Voulgarelis M. et al. No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. Br J Haematol. 2009;144(5):802–3. https://doi.org/10.1111/j.1365-2141.2008.07510.x.
22. Irshad R., Farooq U., Haroon Z., Malik S. Jak 2 mutation in recurrent foetal loss. J Ayub Med Coll Abbottabad. 2019;31(4):608–11.
23. Mercier E., Lissalde-Lavigne G., Gris J.C. JAK2 V617F mutation in unexplained loss of first pregnancy. N Engl J Med. 2007;357(19):1984–5. https://doi.org/10.1056/NEJMc071528.
24. McKerrell T., Park N., Chi J. et al. JAK2 V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics. Blood Adv. 2017;1(14):968–71. https://doi.org/10.1182/bloodadvances.2017007047.
25. Michiels J.J., De Raeve H. The PVSG/WHO versus the Rotterdam European clinical, molecular and pathological diagnostic criteria for the classification of myeloproliferative disorders and myeloproliferative neoplasms (MPD/MPN): From Dameshek to Georgii, Vainchenker and Michiels 1950–2018. Int J Bone Marrow Res. 2019;2:027–050. https://doi.org/10.29328/journal.ijbmr.1001004.
Review
For citations:
Nadinskaia M.Yu., Kodzoeva Kh.B., Sokolova M.A., Apresyan S.V., Kryzhanovskaya E.Yu., Shchukina A.A., Kitsenko E.A. Masked polycythemia vera manifested by splanchnic venous thrombosis during pregnancy: a clinical case. Obstetrics, Gynecology and Reproduction. 2022;16(2):194-203. (In Russ.) https://doi.org/10.17749/2313-7347/ob.gyn.rep.2022.288
Views:
2949
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Email this article 
