Polycythemia in primary care: diagnostic evaluation and management

Authors

  • Lizeth X. Morales-Ceballos Grupo de Investigación Epidemiología, Salud y Violencia. Unidad de Epidemiología, Departamento de Medicina Comunitaria, Facultad de Ciencias de la Salud, Universidad Tecnológica de Pereira. Pereira, Risaralda, Colombia https://orcid.org/0009-0005-7188-9761
  • Samir Pantoja-Meneses Unidad de Medicina Interna, Departamento de Medicina Interna, Facultad de Medicina, Universidad de Antioquia. Medellín, Antioquia, Colombia https://orcid.org/0000-0002-8141-6002
  • Valentina Zapata-Castaño Grupo de investigación Biomedicina. Unidad de Epidemiología, Facultad de Ciencias de la Salud, Institución Universitaria Visión de las Américas. Pereira, Risaralda, Colombia https://orcid.org/0009-0009-6848-2943
  • Adriana P. Ortega-Quintero Departamento de Medicina Interna, Facultad de Medicina, Universidad Nacional de Colombia. Bogotá D.C., Colombia https://orcid.org/0009-0007-1042-6653
  • Jheyson Parra-Saldarriaga Grupo de Investigación Salud, Familia y Sociedad. Unidad de Medicina Familiar, Departamento de Medicina Social y Salud Familiar, Facultad de Ciencias de la Salud, Universidad del Cauca. Popayán, Cauca, Colombia https://orcid.org/0009-0003-2566-8357
  • Eliana K. Manrique-Hernandez Grupo de Investigación Salud, Familia y Sociedad. Unidad de Medicina Familiar, Departamento de Medicina Social y Salud Familiar, Facultad de Ciencias de la Salud, Universidad del Cauca. Popayán, Cauca, Colombia https://orcid.org/0009-0007-7589-7894
  • Geovani López-Ortiz Subdivisión de Medicina Familiar, División de Estudios de Posgrado, Facultad de Medicina, Universidad Nacional Autónoma de México. Ciudad de México, México https://orcid.org/0000-0003-0280-0012
  • Jorge A. Sánchez-Duque Grupo de Investigación GeriaUNAL – Griego. Unidad de Geriatría, Departamento de Medicina Interna, Facultad de Medicina, Universidad Nacional de Colombia. Bogotá D.C., Colombia; Grupo de Investigación Geralgia. Unidad de Medicina del Dolor y Cuidados Paliativos, Universidad Militar Nueva Granada - Instituto Nacional de Cancerología. Bogotá D.C., Colombia https://orcid.org/0000-0002-8913-7729

DOI:

https://doi.org/10.35839/repis.9..2368

Keywords:

erythrocytosis, polycythemia, myeloproliferative diseases, phlebotomy

Abstract

Objective: To develop a narrative synthesis on polycythemia, a prevalent condition that poses diagnostic challenges in primary health care. Materials and methods: A non-systematic literature review was conducted using six databases (PubMed, SCOPUS, ScienceDirect, SciELO, Redalyc, and Google Scholar), covering publications from January 2005 to December 2024. Result: Polycythemia is an underdiagnosed blood hyperviscosity condition with high prevalence and a strong association with cardiovascular events, particularly in cases of polycythemia vera and chronic obstructive pulmonary disease. Conclusion: This review provides a practical approach for early etiological diagnosis and timely treatment of polycythemia. The proposed algorithm optimizes resource use in primary care and may reduce diagnostic delays, improving clinical decision-making.

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References

1. Noumani I, Harrison CN, McMullin MF. Erythrocytosis: Diagnosis and investigation. Int J Lab Hematol. 2024;46 Suppl 1:55-62. doi: https://doi.org/10.1111/ijlh.14298

2. Barbui T, Gisslinger H, Kiladjian JJ, Vannucchi AM, Harrison CN, Guglielmelli P, et al. Polycythaemia vera: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2023;34(8):582-93. doi: https://doi.org/10.1016/j.annonc.2023.05.003

3. Wouters HJCM, Mulder R, van-Zeventer IA, Schuringa JJ, van-der-Klauw MM, van-der-Harst P, et al. Erythrocytosis in the general population: clinical characteristics and association with clonal hematopoiesis. Blood Adv. 2020;4(24):6353-63. doi: https://doi.org/10.1182/bloodadvances.2020003323

4. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-405. doi: https://doi.org/10.1182/blood-2016-03-643544

5. Kremyanskaya M, Mascarenhas J, Hoffman R. Why does my patient have erythrocytosis? Hematol Oncol Clin North Am. 2012;26(2):267-83, vii-viii. doi: https://doi.org/10.1016/j.hoc.2012.02.011

6. Mithoowani S, Laureano M, Crowther MA, Hillis CM. Investigation and management of erythrocytosis. CMAJ. 2020 Aug 10;192(32):E913-E918. doi: https://doi.org/10.1503/cmaj.191587

7. Amaru R, Mancilla E, Patón D, Amaru E, Mamani LF, Carrasco M. Estratificación de riesgo y pronóstico de las eritrocitosis patológicas en la altura. Rev Med La Paz. 2023;29(1):12-9.

8. Olivas-Martinez A, Corona-Rodarte E, Nuñez-Zuno A, Barrales-Benítez O, Oca DM, Mora JD, et al. Causes of erythrocytosis and its impact as a risk factor for thrombosis according to etiology: experience in a referral center in Mexico City. Blood Res. 2021;56(3):166-74. doi: https://doi.org/10.5045/br.2021.2021111

9. Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche PC, Ioannidis JPA, et al. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. Ann Intern Med. 2009;151(4):W65-W94. doi: https://doi.org/10.7326/0003-4819-151-4-200908180-00136

10. McMullin MFF, Mead AJ, Ali S, Cargo C, Chen F, Ewing J, et al; British Society for Haematology Guideline. A guideline for the management of specific situations in polycythaemia vera and secondary erythrocytosis: A British Society for Haematology Guideline. Br J Haematol. 2019;184(2):161-75. doi: https://doi.org/10.1111/bjh.15647

11. Davila-Gonzalez D, Barrios-Ruiz A, Fountain E, Cheng L, Masarova L, Verstovsek S, et al. Diagnostic Performance of Erythropoietin Levels in Polycythemia Vera: Experience at a Comprehensive Cancer Center. Clin Lymphoma Myeloma Leuk. 2021;21(4):224-9. doi: https://doi.org/10.1016/j.clml.2020.11.002

12. Fox S, Griffin L, Robinson Harris D. Polycythemia Vera: Rapid Evidence Review. Am Fam Physician. 2021;103(11):680-7. PMID: 34060791.

13. Busque L, Porwit A, Day R, Olney HJ, Leber B, Éthier V, et al. Laboratory Investigation of Myeloproliferative Neoplasms (MPNs): Recommendations of the Canadian Mpn Group. Am J Clin Pathol. 2016;146(4):408-22. doi: https://doi.org/10.1093/ajcp/aqw131

14. Tefferi A, Barbui T. Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management. Am J Hematol. 2023;98(9):1465-87. doi: https://doi.org/10.1002/ajh.27002

15. Demircioglu S, Budancamanak S, Dogan A. Can Serum B12 Level Be Used As An Effective Differential Criterion in Differential Diagnosis of Primary and Secondary Polycythemia? Selcuk Med J. 2020;36(1):22-6. doi: https://doi.org/10.30733/std.2020.01365

16. Pasari A, Balwani M, Bawankule C, Tolani P, Gurjar P, Sejpal K, et al. Dapagliflozin-Induced Erythrocytosis in Chronic Kidney Disease: A Rare Occurrence. Cureus. 2024;16(4):e58823. doi: https://doi.org/10.7759/cureus.58823

17. Holch J, Spiekermann K. Approach to patients with polyglobulia. MMW Fortschr Med. 2023;165(1):46-7. doi: https://doi.org/10.1007/s15006-022-2152-9

18. Lee Y, Seo SH, Kim J, Kim SA, Lee JY, Lee JO, et al. Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience. Mol Diagn Ther. 2024;28(3):311-8. doi: https://doi.org/10.1007/s40291-024-00703-3

19. Krečak I, Holik H, Morić-Perić M, Zekanović I, Coha B, Gverić-Krečak V, et al. High platelet-to-lymphocyte ratio may differentiate polycythemia vera from secondary polycythemia. Wien Klin Wochenschr. 2022;134(11-12):483-6. doi: https://doi.org/10.1007/s00508-022-02027-w

20. Marchioli R, Finazzi G, Specchia G, Cacciola R, Cavazzina R, Cilloni D, et al; CYTO-PV Collaborative Group. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med. 2013;368(1):22-33. doi: https://doi.org/10.1056/NEJMoa1208500

21. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al; Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-61. doi: https://doi.org/10.1016/S0140-6736(05)71142-9

22. Maldonado D, González-García M, Barrero M, Casas A, Torres-Duque CA. Reference values for arterial blood gases at an altitude of 2.640 meters. Am J Respir Crit Care Med. 2013;187:A4852.

23. Ahmed M, Khalid MF, Abbas A, Shaikh HG, Ammad-ud-din M, Mushtaq MU, et al. Phlebotomy in Secondary Polycythemia: Does It Improve Clinical Symptoms? a Systematic Review. Blood. 2022;140 Suppl 1:11050-1. doi: https://doi.org/10.1182/blood-2022-170862

24. Shah SZ, Raza N, Irfan M. Frequency Of Raised Serum Lactate Dehydrogenase In Patients With Jak2 Positive Polycythaemia Vera. J Ayub Med Coll Abbottabad. 2021;33(3):447-50. PMID: 34487654.

25. Tefferi A, Barraco D, Cerquozzi S, Lasho T, Hanson CA, Ketterling RP, et al. Identification of serum lactate dehydrogenase (LDH) as an independent prognostic biomarker in polycythemia vera. Blood. 2016;128(22):3111. doi: https://doi.org/10.1182/sangre.V128.22.3111.3111

26. Larsen MK, Skov V, Kjær L, Eickhardt-Dalbøge CS, Knudsen TA, Kristiansen MH, et al. Neutrophil-to-lymphocyte ratio and all-cause mortality with and without myeloproliferative neoplasms-a Danish longitudinal study. Blood Cancer J. 2024;14(1):28. doi: https://doi.org/10.1038/s41408-024-00994-z

27. Barbui T, Carobbio A, Ghirardi A, Fenili F, Finazzi MC, Castelli M, et al. Neutrophil-to-lymphocyte ratio as a prognostic indicator of mortality in Polycythemia Vera: insights from a prospective cohort analysis. Blood Cancer J. 2024;14(1):195. doi: https://doi.org/10.1038/s41408-024-01176-7

28. Krečak I, Lucijanić M. Can we use platelet-to-lymphocyte ratio (PLR) to differentiate JAK2-unmutated erythrocytosis from polycythemia vera?. Eur J Intern Med. 2023;108:120-1. doi: https://doi.org/10.1016/j.ejim.2022.09.023

29. Cvetković M, Arsenović I, Smiljanić M, Sobas M, Bogdanović A, Leković D. Neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio as novel prognostic biomarkers in BCR-ABL negative myeloproliferative neoplasms. Ann Hematol. 2024;103(11):4545-56. doi: https://doi.org/10.1007/s00277-024-06023-0

30. Blanco-Betancur M, Clavijo-Lozano N, Martínez-Muñoz MA, Orozco-Hernández JP, Pacheco-Gallego MC, Babativa-Márquez JG, et al. Predictores de mortalidad en pacientes con enfermedad pulmonar obstructiva crónica en Colombia: Un estudio de casos y controles. Rev Peru Investig Salud. 2023;7(1):17-25. doi: https://doi.org/10.35839/repis.17.1.1680

31. Arango-Franco R, Martínez JW, Cárdenas-Castellanos JM, Rivera-Toquica AA, Marín-Medina DS, Orozco-Hernández JP, et al. Falla cardíaca avanzada en pacientes tratados con dispositivos electrofisiológicos en una unidad de electrofisiología, Pereira (Colombia). Investigaciones Andina. 2014;16:978-88. doi: https://doi.org/10.33132/01248146.76

32. Lee G, Arcasoy MO. The clinical and laboratory evaluation of the patient with erythrocytosis. Eur J Intern Med. 2015;26(5):297-302. doi: https://doi.org/10.1016/j.ejim.2015.03.007

33. Sánchez-Duque JA, Muñoz-Marin GA. Ecografía a pie de cama en atención primaria. Aten Primaria. 2022;54(11):102474. doi: https://doi.org/10.1016/j.aprim.2022.102474

34. Morales-Ceballos LX, López-Ortiz G, Acosta-Bolívar AJ, Bautista-Mier HA, Londoño-Morales VA, Sánchez-Duque JA. Insomnio en adultos y ancianos: enfoque en atención primaria. Rev Mex Med Fam. 2024;11:89-98. doi: https://doi.org/10.24875/RMF.24000079

35. Buks R, Dagher T, Rotordam MG, Monedero-Alonso D, Cochet S, Gautier EF, et al. Altered Ca2+ Homeostasis in Red Blood Cells of Polycythemia Vera Patients Following Disturbed Organelle Sorting during Terminal Erythropoiesis. Cells. 2021;11(1):49. doi: https://doi.org/10.3390/cells11010049

36. Haase VH. Regulation of erythropoiesis by hypoxia-inducible factors. Blood Rev. 2013;27(1):41-53. doi: https://doi.org/10.1016/j.blre.2012.12.003

37. Harrison CN, Barbui T, Bose P, Kiladjian JJ, Mascarenhas J, McMullin MF, Mesa R, Vannucchi AM. Polycythaemia vera. Nat Rev Dis Primers. 2025 Apr 17;11(1):26. doi: https://doi.org/10.1038/s41572-025-00608-3

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2025-06-10

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1.
Polycythemia in primary care: diagnostic evaluation and management. Rev Peru Investig Salud [Internet]. 2025 Jun. 10 [cited 2025 Oct. 10];9:e2368. Available from: http://revistas.unheval.edu.pe/index.php/repis/article/view/2368

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