Polycythemia syndrome in childhood (literature review)

Authors

DOI:

https://doi.org/10.15574/PP.2024.3(99).153162

Keywords:

polycythemia syndrome, newborns, children of early and late age, etiopathogenesis, clinic, treatment, prognosis

Abstract

The relevance of polycythemia syndrome in pediatrics is related to the long-term consequences of hypoxia, especially for the brain, which to one degree or another causes the development of neurological consequences. Polycythemia is one of the many and quite complex in terms of choosing tactics for managing neonatal diseases. A number of conditions and nosologies characteristic of the perinatal period lead to the development of this pathology. A decrease in the perfusion of organs that develops against the background of polycythemia can be accompanied not only by their transient dysfunction, but also by a severe lesion that leads to a violation of the further development of the child, disability. A child may lag behind in psychomotor and physical development, suffer from social adaptation disorders, etc.

Aim - to review the current definition of polycythemia and the appropriate management that can be used to aid clinical decision making.

According to modern data, polycythemia (erythremia) is a condition characterized by an increase in the number of erythrocytes (more than 7.5 T/l), the level of hemoglobin (more than 180 g/l) and the total volume of erythrocytes (TBC) (more than 0.52 ). The term "polycythemia" is used only in relation to erythrocytes, without taking into account the number of leukocytes and platelets. When talking about an absolute increase in the number of erythrocytes, the term "erythrocytosis" is used. "Erythremia" is called "true polycythemia (polycythemiavera)", in which the number of leukocytes and platelets is increased. In newborns and children of early and older age, this condition can be caused by various factors, such as hypoxia, infections, damage to the cardiovascular system, perinatal complications, and others. According to the literature (domestic and international sources), the following forms of polycythemia are distinguished - true (primary) and relative (secondary). The mass of erythrocytes increases only with true polycythemia. The total volume of erythrocytes changes in true and secondary polycythemia.

An analysis of literary sources was carried out and information from many different researchers was provided regarding the factors of the development of polycythemia, etiopathogenesis, clinical and laboratory indicators, the basis for which are the anatomical and physiological features of the child’s body.

No conflict of interests was declared by the authors.

References

Barros TTM, Gavilanes ERO, Barros JMT. (2021). Polycythemia in the newborn: prevalence and associated factors. Revista Ecuatoriana de Pediatría. 22(1)::1-6.

Bashir BA, Othman SA. (2019). Neonatal polycythaemia. Sudanese journal of paediatrics. 19(2): 81-83. https://doi.org/10.24911/SJP.106-1566075225; PMid:31969734 PMCid:PMC6962272

Cakmak H.M, Kartal O, Kocaaga A, Bildirici Y. (2022). Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation. Pediatrics and neonatology. 63(6): 613-617. https://doi.org/10.1016/j.pedneo.2022.06.006; PMid:36002380

Capasso L, Raimondi F, Capasso A et al. (2003). Early Cord Clamping Protects At-Risk Neonates from Polycythemia. Biology of the neonate. 83(3): 197-200. https://doi.org/10.1159/000068933; PMid:12660438

De Waal KA, Berts V, Offringa M. (2022). Systematic review of the optimal fluid for replacement dilution in neonatal polycythemia. Archives of disease in childhood. Fetal and neonatal edition. 91(1): 7-10. https://doi.org/10.1136/adc.2004.063925; PMid:16371393 PMCid:PMC2672658

Ergenekon E, Hirfanoglu IM, Turan O et al. (2011). Partial exchange transfusion results in increased results in increased cerebral oxygenation and faster peripheral microcirculation in newborns with polycythemia. Acta paediatrica. 100(11): 1432-1436. https://doi.org/10.1111/j.1651-2227.2011.02358.x; PMid:21595746

Filser M, Aral B, Airaud F et al. (2021). Low incidence of EPOR mutations in idiopathic erythrocytosis. Нaematologica. 106(1): 299-301. https://doi.org/10.3324/haematol.2019.244160; PMid:32165487 PMCid:PMC7776331

Gleason CA, Devaskar SU. (2012). Avery's diseases of the newborn. Avery's Diseases of the Newborn (Ninth Edition). Oxford: Elsevier Saunders: 1556.

Ianotto JC, Curto-Garcia N, Lauermanova MD et al. (2019). Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systematic review. Нaematologica. 104(8): 1580-1588. https://doi.org/10.3324/haematol.2018.200832; PMid:30679326 PMCid:PMC6669170

Iurlo А, Cattaneo D, Bucelli C, Baldini L. (2020). New Perspectives on Polycythemia Vera: From Diagnosis to Therapy. International journal of molecular sciences. 13; 21(16): 5805. https://doi.org/10.3390/ijms21165805; PMid:32823537 PMCid:PMC7461104

Jeevasankar M, Agarwal R, Chawla D et al. (2008). Polycythemia in the newborn. Indian journal of pediatrics. 75(1): 68-72. https://doi.org/10.1007/s12098-008-0010-0; PMid:18245939

Kandasamy J. (2017). Polycythemia of the Newborn. Medscape. URL: https://emedicine.medscape.com/article/976319-overview.

Kristan A, Debeljak N, Kunej T. (2019). Genetic variability of hypoxia‐inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases. European journal of haematology. 103(4): 287-299. https://doi.org/10.1111/ejh.13304; PMid:31376207

Kucine N. (2020, Apr 01). Myeloproliferative Neoplasms in Children, Adolescents, and Young Adults. Current Hematologic Malignancy Reports. 15(2): 141-148. https://doi.org/10.1007/s11899-020-00571-8; PMid:32172359 PMCid:PMC7234912

Mandala WL, Gondwe EN, MacLennan JM et al. (2017). Age- and sex-related changes in hematological parameters in healthy Malawians. Journal of blood medicine. 8: 123-130. https://doi.org/10.2147/JBM.S142189; PMid:28919829 PMCid:PMC5587168

McMullin MF, Harrison CN, Ali S et al. (2019). A guideline for the diagnosis and management of polycythaemia vera. A British Society for Haematology Guideline. British Journal of Haematology. 184(2): 176-191. https://doi.org/10.1111/bjh.15648; PMid:30478826

Mei Lam JC, Campbell S, Barnes C. (2018). The boy with the ruddy face: An approach to polycythaemia presenting in childhood. Journal of paediatrics and child health. 54(4): 453-456. https://doi.org/10.1111/jpc.13820; PMid:29285835

Mercer JS, Erickson-Owens DA, Collins J et al. (2017). Effects of delayed cord clamping on residual placental blood volume, hemoglobin and bilirubin levels in term infants: a randomized controlled trial. Journal of perinatology. 37(3): 260-264. https://doi.org/10.1038/jp.2016.222; PMid:27929530 PMCid:PMC5334141

Mimuni FB, Merlob P, Dollberg S et al. (2011). Neonatal polycythaemia: critical review and a consensus statement of the Israeli Neonatology Association. Acta Paediatrica. 100(10): 1290-1296. https://doi.org/10.1111/j.1651-2227.2011.02305.x; PMid:21457305

Osler W. (2008). Chronic cyanosis, with polycythaemia and enlarged spleen: a new clinical entity. The American Journal of the Medical Sciences. 335(6): 411-417. https://doi.org/10.1097/MAJ.0b013e318175d13d; PMid:18552568

Raedler LA. (2014). Diagnosis and Management of Polycythemia Vera: Proceedings from a Multidisciplinary Roundtable. American Health & Drug Benefits. 7; 7 suppl 3: 36-47.

Sankar MJ, Agarwal R, Deorari A et al. (2010). Management of Polycythemia in Neonates. The Indian Journal of Pediatrics. 77(10): 1117-1121. https://doi.org/10.1007/s12098-010-0177-z; PMid:20725868

Sarkar S, Rosenkrantz TS. (2008). Neonatal polycythemia and hyperviscosity. Seminars in Fetal and Neonatal Medicine. 13(4): 248-255. https://doi.org/10.1016/j.siny.2008.02.003; PMid:18424246

Sinha S, Miall L, Jardine L. (2012). Essential neonatal medicine, 5th Ed. Chichester:Wiley-Blackwell: 400.

Sundaram M, Dutta S, Narang A. (2016). Fluid supplementation versus no fluid supplementation in late preterm and term neonates with asymptomatic polycythemia: a randomized controlled trial. Indian Pediatrics. 15; 53(11): 983-986. https://doi.org/10.1007/s13312-016-0972-3; PMid:27889725

Tefferi A, Vannucchi AM, Barbui T. (2018). Polycythemia vera treatment algorithm 2018. Blood cancer journal. 10; 8(1): 3. https://doi.org/10.1038/s41408-017-0042-7; PMid:29321547 PMCid:PMC5802495

Tefferi A. (2024). Clinical manifestations and diagnosis of polycythemia vera. Medilib. URL: https://medilib.ir/uptodate/show/4517.

Uslu S, Ozdemir H, Bulbul A et al. (2011). Evaluation of neonates with polycythemia: efficacy of partial exchange transfusion. Journal of maternal-fetal and neonatal medicine. 24(12): 1492-1497. https://doi.org/10.3109/14767058.2010.550350; PMid:21247234

Vaquez LH. (1892). Sur une forme spéciale de cyanose s'accompagnant d'hyperglobulie excessive et persistante. C R Soc Biol (Paris). 44: 384-388.

Verbeek L, Slaghekke F, Sueters M et al. (2017). Hematological disorders at birth in complicated monochorionic twins. Expert Review of Hematology. 10(6): 525-532. https://doi.org/10.1080/17474086.2017.1324290; PMid:28460542

White WB, Saag KG, Becker MA et al. (2018). Cardiovascular Safety of Febuxostat or Allopurinol in Patients with Gout. The New England Journal of Medicine. 378(13): 1200-1210. https://doi.org/10.1056/NEJMoa1710895; PMid:29527974

Published

2024-09-28