Extreme essential thrombocytosis in a healthy asymptomatic 6-month-old child

Authors

  • Faraj A. Harbi Department of Pediatric Emergency, King Fahad Medical City, Riyadh, Saudi Arabia
  • Altaf A. Bhat Department of Pediatric Emergency, King Fahad Medical City, Riyadh, Saudi Arabia
  • Murtada H. Alsultan Department of Pediatric Hemato-Oncology, King Fahad Medical City, Riyadh, Saudi Arabia

DOI:

https://doi.org/10.18203/2349-3291.ijcp20243480

Keywords:

Thrombocytosis essential and reactive, JAK2, CLAR, MPL

Abstract

In healthy child essential thrombocytosis is always an incidental finding during routine check. Essential thrombocytosis (primary thrombocythemia) is a non-reactive, chronic myeloproliferative disorder in which sustained megakaryocyte proliferation leads to an increase in the number of circulating platelets, on the other hand reactive or secondary thrombocytosis is the more common form, with infectious diseases being the most common cause. Mutations in Janus kinase 2 (JAK2), calreticulin (CALR), or myeloproliferative leukemia (MPL) are found in approximately 90% of patients with essential thrombocytosis. We describe a case of extreme thrombocytosis in a healthy 6-month child. She required admission for workup (maximum number of platelets 1900,000/mm3). With this case, we reviewed the different causes of thrombocytosis in childhood, differential diagnosis, World Health Organization (WHO) criteria for diagnosis of essential thrombocytosis, and the available treatments in case of extreme thrombocytosis.

References

Dame C, Sutor AH. Primary and secondary thrombocytosis in childhood. Br J Haematol. 2005;129(2):165-77.

Barbui T, Thiele J, Tefferi A. Myeloproliferative neoplasms. N Engl J Med. 2017;377:894-5.

Arber DA, Orazi A, Hesperian 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;127:2391-405.

Putti MC, Bertozzi I, Randi ML. Essential Thrombocythemia in Children and Adolescents. Cancers (Basel). 2021;13(23):6147.

Yadav D, Chandra J, Sharma S, Singh V. Clinic hematological study of thrombocytosis. Indian J Pediatr. 2010;77:643-7.

Harrison CN, Donohoe S, Carr P, Dave M, Mackie I, Machin SJ. Patients with essential thrombocythaemia have an increased prevalence of antiphospholipid antibodies which may be associated with thrombosis. Thromb Haemost. 2002;87(5):802-7.

Monagle P, Cuello CA, Augustine C, Bonduel M, Brandão LR, Capman T, et al. American Society of Hematology 2018 Guidelines for management of venous thromboembolism: Treatment of pediatric venous thromboembolism. Blood Adv. 2018;2:3292-316.

Indolfi G, Catania P, Bartolini E, Azzari C, Massai C, Poggi GM, et al. Incidence and clinical significance of reactive thrombocytosis in children aged 1 to 24 months, hospitalized for community-acquired infections. Platelets. 2008;19:409-14.

Kaushansky K. Historical review: megakaryopoiesis and thrombopoiesis. Blood. 2008;111(3):981-6.

Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood. 2001;97(1):139-46.

Wolber EM, Jelkmann W. Thrombopoietin: the novel hepatic hormone. News Physiol Sci. 2002;17:6-10.

Stockklausner C, Gehring N, Echner N, Mulla NAA, Kulozik AE. Autosomal recessive hereditary thrombocytosis: functional analysis of a novel C-Mpl mutation resulting in an unsual mode of constitutive receptor activation [abstract]. ASH Annual Meeting Abstracts. 2008;112(11).

Zhang B, Ng D, Jones C, Oh ST, Nolan GP, Salehi S, et al. A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia. Blood. 2011;118(26):6988-90.

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Published

2024-11-25

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Section

Case Reports