Polycythemia diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]
Overview
Diagnostic study of choice for polycythemia includes history and physical examination. Blood evaluation in association with genetic mutation study for relevant mutation. Imaging for splenomegaly.
Diagnostic Study of Choice
Study of choice
- The polycythemia vera study group is considered to be the gold standard test for the diagnosis of polycythemia vera; however, it does not take into account bone marrow histopathology.[1][2][3]
- Clinical features that significantly differentiate primary vs secondary polycythemia are:
- Splenomegaly, thrombocyte count, LDH, LAP, and erythropoietin. [4]
Diagnostic criteria for polycythemia vera:[5]
- JAK2 positive polycythemia vera
A1.Hematocrit >0.52 in men, >0.48 in women OR; red cell mass >25% above predicted. A2.Mutation in JAK2
- Both criteria must be present for a diagnosis.
- JAK2 negative polycythemia vera
A1. Increased RBC mass >25% above predicted OR; Hct >0.60 in men and >0.56 in women. A2.Absence of a JAK2 mutation. A3.Absent secondary erythrocytosis causes. A4.Splenomegaly is palpable on physical examination. A5.Evidence of an acquired mutation (except BCR-ABL) in the hematopoietic cells. B1.Thrombocytosis (>450 x 109) B2. Neutrophilic leukocytosis (>10 x 109 in smokers, >12.5 x 109 in non-smokers). B3.Evidence of splenomegaly on imaging. B4.Reduced serum erythropoietin or colonies of endogenous erythroid cells.
A1 + A2 + A3 plus either one more A or two B criteria must be present for diagnosis.
References
- ↑ Streiff MB, Smith B, Spivak JL (2002). "The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patterns". Blood. 99 (4): 1144–9. doi:10.1182/blood.v99.4.1144. PMID 11830459.
- ↑ Raedler LA (2014). "Diagnosis and Management of Polycythemia Vera: Proceedings from a Multidisciplinary Roundtable". Am Health Drug Benefits. 7 (7 Suppl 3): S36–47. PMC 4639938. PMID 26568781.
- ↑ Thiele J, Kvasnicka HM (January 2005). "Diagnostic impact of bone marrow histopathology in polycythemia vera (PV)". Histol Histopathol. 20 (1): 317–28. doi:10.14670/HH-20.317. PMID 15578448.
- ↑ Thiele J, Kvasnicka HM, Zankovich R, Diehl V (April 2001). "The value of bone marrow histology in differentiating between early stage Polycythemia vera and secondary (reactive) Polycythemias". Haematologica. 86 (4): 368–74. PMID 11325641.
- ↑ Griesshammer M, Gisslinger H, Mesa R (2015). "Current and future treatment options for polycythemia vera". Ann Hematol. 94 (6): 901–10. doi:10.1007/s00277-015-2357-4. PMC 4420843. PMID 25832853.