Polycythemia vera differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]

Overview

Polycythemia vera must be differentiated from chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis.[1][2]

Differential Diagnosis

Polycythemia vera must be differentiated from a variety of other conditions.

Characteristic/Parameter Etiology Symptoms Laboratory abnormalities Physical examination Treatment Other associated abnormalities
Polycythemia vera
  • JAK2 mutation (V617F or exon 12 mutation)
  • Autonomous erythrocyte production
  • Erythromelagia
  • Headache
  • Stroke-like symptoms
  • Aspirin
  • Ruxolitinib
  • Hydroxyurea
  • Phlebotomy
  • Interferon-alpha
Chronic myeloid leukemia
  • Reciprocal translocation of chromosomes 9 and 22
  • Production of BCR-Abl kinase, which drives cell proliferation
  • Abdominal pain
  • Infections
  • Fever
  • Splenomegaly
  • Imatinib
  • Dasatinib
  • Bosutinib
  • Nilotinib
  • Ponatinib for T315I kinase domain mutation
  • Interferon-alpha
  • Can appear similar to leukemoid reaction
Primary myelofibrosis
  • Clonal disorder of megakaryocytes
  • Excess production TGF-beta and collagen
  • Fatigue
  • Abdominal pain
  • Early satiety
  • Variable risk for development of acute leukemia
Hemolytic anemia
Sideroblastic anemia

Or

Anemia of chronic disease
Erythropoietin deficiency
  • Epoetin alfa 50-100 units/kg 3 times weekly
  • Darbepoietin 0.45 mcg/kg weekly or 0.75 mcg/kg every 2 weeks[3]
Vitamin B12 or folate deficiency


[1][2][4]

References

  1. 1.0 1.1 Tefferi A, Barbui T (2015). "Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management". Am J Hematol. 90 (2): 162–73. doi:10.1002/ajh.23895. PMID 25611051.
  2. 2.0 2.1 Sanchez S, Ewton A (2006). "Essential thrombocythemia: a review of diagnostic and pathologic features". Arch Pathol Lab Med. 130 (8): 1144–50. doi:10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2. PMID 16879015.
  3. Platzbecker U, Symeonidis A, Oliva EN, Goede JS, Delforge M, Mayer J; et al. (2017). "A phase 3 randomized placebo-controlled trial of darbepoetin alfa in patients with anemia and lower-risk myelodysplastic syndromes". Leukemia. 31 (9): 1944–1950. doi:10.1038/leu.2017.192. PMC 5596208. PMID 28626220.
  4. Jabbour E, Kantarjian H (2014). "Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management". Am J Hematol. 89 (5): 547–56. doi:10.1002/ajh.23691. PMID 24729196.

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