POSSIBILITY OF DIAGNOSING ESSENTIAL TROMBOCYTHEMIA AT THE STAGE OF PRIMARY MEDICAL CARE
- Authors: Gorban V.1, Manto V.2, Bergen N.1, Arzumanyan K.1
-
Affiliations:
- Kuban State Medical University, Krasnodar, Russia
- ФГБУ ВО Кубанский Государственный медицинский университет МЗ РФ
- Section: Case report
- Submitted: 06.04.2024
- Accepted: 19.07.2024
- Published: 27.07.2024
- URL: https://journals.eco-vector.com/RFD/article/view/630047
- DOI: https://doi.org/10.17816/RFD630047
- ID: 630047
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Abstract
Presents a clinical case of essential thrombocythemia (ET) in a 39-year-old woman with a description of the epidemiology, clinical and diagnostic criteria, patient management tactics, as well as a discussion of probable complications and prognosis for ET. The need for careful outpatient monitoring with assessment of the clinical picture, dynamics of blood counts, bone marrow trepanobiopsy and molecular genetic research to determine mutations of the MPL and CALR genes is emphasized. It was concluded that there are gaps in medical examination, the implementation of which would undoubtedly contribute to the early detection of ET and the implementation of pathogenetic therapy with antiplatelet agents to prevent complications.
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About the authors
Vitaly Gorban
Kuban State Medical University, Krasnodar, Russia
Author for correspondence.
Email: gorbanvv@mail.ru
ORCID iD: 0000-0001-8665-6796
Valeria Manto
ФГБУ ВО Кубанский Государственный медицинский университет МЗ РФ
Email: lera.menshikh@mail.ru
ORCID iD: 0000-0001-5601-6034
Nikita Bergen
Kuban State Medical University, Krasnodar, Russia
Email: Fredibergsn23@mail.ru
ORCID iD: 0009-0000-0676-0367
Kamila Arzumanyan
Kuban State Medical University, Krasnodar, Russia
Email: arzumanyan.kamilla@mail.ru
ORCID iD: 0000-0001-8739-6340
References
- Yu Y., Zhang X., Shi Q. et al. Essential thrombocytosis with recurrent spontaneous abortion in the mid trimester: A case report. Medicine (Baltimore). 2019; 98(26):e16203. doi: 10.1097/MD.0000000000016203
- Vainchenker W., Kralovics R. Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017; 129(6):667-679. doi: 10.1182/blood-2016-10-695940
- Melikjan A.L., Subortseva I.N., Sudarikov A.B. et al. Clinical features of essential thrombocythemia and primary myelofibrosis, depending on the molecular characteristics of disease. Therapeutic Archive. 2017;89(7):4 9. (In Russ.)
- doi: 10.17116/terarkh20178974-9
- Padmanabhan A., Connelly-Smith L., Aqui N. et all. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice - Evidence-Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue. J Clin Apher. 2019;34(3):171-354. doi: 10.1002/jca.21705
- Melikyan A.L., Kovrigina A.M., Subortseva I.N. et all. National сlinical recommendations for diagnosis and therapy of ph-negative myeloproliferative neoplasms (polycythemia vera, essential thrombocythemia, primary myelofibrosis) (edition 2018). Russian journal of hematology and transfusiology. 2018;63(3):275-315. (In Russ.)
- Tefferi A., Barbui T. Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2020;95(12):1599-1613. doi: 10.1002/ajh.26008
- Mora B., Passamonti F. Developments in diagnosis and treatment of essential thrombocythemia. Expert Review of Hematology. 2019;12(3):159-171. doi: 10.1080/17474086.2019.1585239
- Accurso V., Santoro M., Mancuso S. et al. The Essential Thrombocythemia in 2020: What We Know and Where We Still Have to Dig Deep. Clinical Medicine Insights: Blood Disorders. 2020;13. doi: 10.1177/2634853520978210
- İskender D., Yılmaz-Ergani S., Aksoy M., et all. High Rate of Obstetric Complications in Patients With Essential Thrombocythemia. Cureus. 2021;13 (12):e20449. doi: 10.7759/cureus.20449
- Kwiatkowski J., Kuliszkiewicz-Janus M., Potoczek S. et al. What factors determine the pregnancy outcome in patients with essential thrombocythemia? J Matern Fetal Neonatal Med. 2022;35(24):4734-4738. doi: 10.1080/14767058.2020.1863362
- Cattaneo D., Croci G.A., Bucelli C. et al. Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study. Front Oncol. 2021;12(11):637116. doi: 10.3389/fonc.2021.637116
- Tefferi A., Guglielmelli P., Larson D.R. et al. Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. Blood. 2014;124(16):2507-13. doi: 10.1182/blood-2014-05-579136
- 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. doi: 10.1182/blood-2016-03-643544
- Wang Y., Ran F., Lin J. et al. Genetic and Clinical Characteristics of Patients with Philadelphia-Negative Myeloproliferative Neoplasm Carrying Concurrent Mutations in JAK2V617F, CALR, and MPL. Technol Cancer Res Treat. 2023; 22. doi: 10.1177/15330338231154092
- Mroczkowska-Bękarciak A., Wróbel T. BCR: ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing. Front Genet. 2023;14:1241912. doi: 10.3389/fgene.2023.1241912
- Okazaki H., Doi T., Izumikawa M. et al. Pulsatile tinnitus as a first symptom of essential thrombocythemia. Am J Otolaryngol. 2011;32(3):263-4. doi: 10.1016/j.amjoto.2010.03.004
- Michiels J.J., Berneman Z., Schroyens W. et al. Platelet-mediated erythromelalgic, cerebral, ocular and coronary microvascular ischemic and thrombotic manifestations in patients with essential thrombocythemia and polycythemia vera: a distinct aspirin-responsive and coumadin-resistant arterial thrombophilia. Platelets. 2006;17(8):528-44. doi: 10.1080/09537100600758677
- Inoue S., Okiyama N., Okune M. et al. Clinical and histological characteristics of livedo racemosa in essential thrombocythemia: A report of two cases and review of the published works. J Dermatol. 2017;44(1):84-87. doi: 10.1111/1346-8138.13561
- Robinson A.J., Godfrey A.L. Low-Risk Essential Thrombocythemia: A Comprehensive Review. Hemasphere. 2021;5(2):e521. doi: 10.1097/HS9.0000000000000521
- Zulkeflee R.H., Zulkafli Z., Johan M.F. et al. Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN). Int J Environ Res Public Health. 2021;18(14):7582. doi: 10.3390/ijerph18147582
- Gaman A. M. et al. Crosstalk between oxidative stress, chronic inflammation and disease progression in essential thrombocythemia. Rev Chim. 2019;70(10):3486-3489. doi: 10.37358/RC.19.10.7581
- Carobbio A., Ferrari A., Masciulli A., et al. Leukocytosis and thrombosis in essential thrombocythemia and polycythemia vera: a systematic review and meta-analysis. Blood Adv. 2019;3(11):1729-1737. doi: 10.1182/bloodadvances.2019000211.
- Awada H., Voso M.T., Guglielmelli P. et all. Essential Thrombocythemia and Acquired von Willebrand Syndrome: The Shadowlands between Thrombosis and Bleeding. Cancers (Basel). 2020;12(7):1746. doi: 10.3390/cancers12071746
- Abu-Tineh M., Yassin M.A. Extreme Levels of Platelet Count in Essential Thrombocythemia: Management and Outcome, Report of Two Cases. Case Rep Oncol. 2020;13(2):606-610. doi: 10.1159/000507363
- Beer P.A., Erber W.N., Campbell P.J. et al. How I treat essential thrombocythemia. Blood. 2011;117(5):1472-82. doi: 10.1182/blood-2010-08-270033
- Sakamoto Y., Nito C., Abe A. et al. Aspirin, but not clopidogrel, ameliorates vasomotor symptoms due to essential thrombocythemia: A case report. J Neurol Sci. 2016;15(365):74-5. doi: 10.1016/j.jns.2016.04.014