Polycythemia diagnostic study of choice: Difference between revisions
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{{CMG}}; {{AE}} {{Debduti}} | {{CMG}}; {{AE}} {{Debduti}} | ||
== Overview == | ==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 == | ==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. <ref name="pmid15578448">{{cite journal |vauthors=Thiele J, Kvasnicka HM |title=Diagnostic impact of bone marrow histopathology in polycythemia vera (PV) |journal=Histol Histopathol |volume=20 |issue=1 |pages=317–28 |date=January 2005 |pmid=15578448 |doi=10.14670/HH-20.317 |url=}}</ref> | *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. <ref name="pmid15578448">{{cite journal |vauthors=Thiele J, Kvasnicka HM |title=Diagnostic impact of bone marrow histopathology in polycythemia vera (PV) |journal=Histol Histopathol |volume=20 |issue=1 |pages=317–28 |date=January 2005 |pmid=15578448 |doi=10.14670/HH-20.317 |url=}}</ref> | ||
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*JAK2 positive polycythemia vera | *JAK2 positive polycythemia vera | ||
A1.Hematocrit >0.52 in men, >0.48 in women OR; red cell mass >25% above predicted. | A1.Hematocrit >0.52 in men, >0.48 in women OR; red cell mass >25% above predicted. | ||
A2.Mutation in JAK2 | A2.Mutation in JAK2 | ||
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*JAK2 negative polycythemia vera | *JAK2 negative polycythemia vera | ||
A1. Increased RBC mass >25% above predicted OR; Hct >0.60 in men and >0.56 in women. | A1. Increased RBC mass >25% above predicted OR; Hct >0.60 in men and >0.56 in women. | ||
A2.Absence of a JAK2 mutation. | A2.Absence of a JAK2 mutation. | ||
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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]
- Clinical features that significantly differentiate primary vs secondary polycythemia are: splenomegaly, thrombocyte count, LDH, LAP, and erythropoietin. [2]
- Diagnostic criteria for polycythemia vera:
- 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. [3]
References
- ↑ 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.
- ↑ "The classification and diagnosis of erythrocytosis - McMULLIN - 2008 - International Journal of Laboratory Hematology - Wiley Online Library".