Polycythemia vera: a case report
Keywords:Adolescence, Polycythemia vera, Thrombosis, Thrombocytosis
Polycythemia vera (PV) is a myeloproliferative disturbance of haematopoietic cells characterized by abnormal and overstated production of erythrocytes, leukocytes and platelets. Other disease features include splenomegaly, thrombohemorrhagic complications, vasomotor disturbances, pruritus and a small risk of disease progression into acute myeloid leukemia or myelofibrosis. Thrombosis is the presenting symptom in 20% of patients with PV. It is a rare disease with an incidence of 2.3/100.000 people per year, and is even more uncommon in children and adolescents. We present a case report of a fourteen-year-old years old adolescent with clinical and laboratorial findings suggestive of polycythemia vera. Treatment with alpha-interferon was initiated. Erythrocyte and platelet count are now in the normal range. The authors make, in the context of this case report, a brief review of the criteria for the differential diagnosis of reactive thrombocytosis and myeloproliferative diseases, manifestations and treatment options.
Tefferi, A., Polycythemia vera and essential thrombocythemia: 2013 update on diagnosis, riskstratification, and management. Am. J. Hematol., 88: 507–16. doi: 10.1002/ajh.23417.
Vardiman JW, Thiele J, Arber DA, et al. The 2003 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: Rationale and important changes. Blood 2009;114:937-51.
Cario H, McMullin MF, Pahl HL. Clinical and hematological presentation of children and adolescents with polycythemia vera. Ann Hematol. 2009;88:713-9.
Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008;22:14-22.
McMullin MF. Idiopathic erythrocytosis: a disappearing entity. Hematology Am Soc Hematol Educ Program. 2009;1:629-35.
Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol. 2009;84:46-54.
Gordeuk VR, Stockton DW, Prchal JT. Congenital polycythemias/erythrocytoses. Haematologica. 2005; 90:109-16.
Osgood EE. Polycythemia vera: age relationship and survival. Blood. 1965; 26:243-56.
Wick H. Polycythaemia vera mit neurologischen Komplikationen bei einem 12jährigen Kind. Schweiz Med Wochenschr. 1969; 99:186-9.
Park MJ, Shimada A, Asada H, Koike K, Tsuchida M, Hayashi Y. JAK2 mutation in a boy with polycythemia vera, but not in other pediatric hematologic disorders. Leukemia. 2006; 20:1453-4.
Aggeler PM, Pollycove M, Hoag S, Donald WG, Lawrence JH. Polycythemia vera in childhood. Studies of iron kinetics with Fe59 and blood clotting factors. Blood. 1961; 17:345-50.
Berbis P, Devaux J, Benveniste MJ, Perrimond H, Privat Y. Severe erosive lichen planus and polycythemia vera in an adolescent. Dermatologica. 1987; 174:244-8.
Cap J. Polycythemia vera in an 11-year-old child. Bone marrow depression after daraprim treatment. Cesk Pediatr. 1961; 16:49-53.
Rives S, Pahl HL, Florensa L, et al. Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. Haematologica. 2007;92:674-7.
Marchioli R, Finazzi G, Specchia G, et al. Cardiovascular events and intensity of treatment in polycythemia vera. New Engl J Med 2013;368:22-33.
Ang SO, Chen H, Gordeuk VR, et al. Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells Mol Dis. 2002;28:57-62.
Perrotta S, Nobili B, Ferraro M, et al. Von Hippel-Lindaudependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. Blood. 2006;107:514-9.
Cario H, Schwarz K, Jorch N, et al. Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHLhaplotype analysis in patients with presumable congenital erythrocytosis. Haematologica. 2005;90:19-24.
van Wijk R, Sutherland S, Van Wesel AC, et al. Erythrocytosis associated with a novel missense mutation in the HIF2A gene. Haematologica. 2010;95:829-32.
Percy MJ, Furlow PW, Lucas GS, et al. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med. 2008;358:162-8.
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