Polycythemia vera differential diagnosis: Difference between revisions

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! align="center" style="background:#DCDCDC;" |Secondary polycythemia   
! align="center" style="background:#DCDCDC;" |Secondary polycythemia   
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* [[Congestive heart failure]] (CHF)
* [[Congestive heart failure]]
* [[Interstitial lung disease]] (ILD)
* [[Interstitial lung disease]]
* [[Obstructive sleep apnea]] (OSA)
* [[Obstructive sleep apnea]]
* [[Smoking]]
* [[Smoking]]
* High altitude living
* [[High altitude sickness]]
* Ectopic [[erythropoietin]] production from tumor (renal cell carcinoma or hepatocellular carcinoma)
* Ectopic [[erythropoietin]] production from tumor ([[renal cell carcinoma]] or [[hepatocellular carcinoma]])
* Chronic [[hypoxia]] from a variety of other causes
* Chronic [[hypoxia]] from a variety of other causes
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Revision as of 14:27, 27 August 2018

Polycythemia vera Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]; Shyam Patel [3]

Overview

Polycythemia vera must be differentiated from other myeloproliferative neoplasms, such as chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.

Differential Diagnosis

Polycythemia vera must be differentiated from a variety of other conditions.[1][2][3]

Disease Etiology Symptoms Signs Laboratory abnormalities Treatment Other associated abnormalities
Polycythemia vera (PV)
  • JAK2 mutation (V617F or exon 12 mutation) in more than 95% of cases
  • Autonomous erythrocyte production
Essential thrombocythemia (ET)
  • Clonal proliferation of megakaryocytes
  • Excess platelet production
  • Caused by JAK2 mutation in 50% of cases
  • Caused by CALR mutation in some cases
Chronic myeloid leukemia (CML)
  • Reciprocal translocation of chromosomes 9 and 22
  • Production of BCR-Abl kinase, which drives cell proliferation
Primary myelofibrosis (PMF)
Secondary polycythemia
  • Treatment of underlying cause of hypoxia
  • Supplemental oxygen
  • Diuresis for CHF
  • Steroids for ILD
  • Continuous positive airway pressure for OSA
  • Smoking cessation or nicotine replacement
  • Surgical removal of tumors
  • Variable manifestations given the diverse etiologies

References

  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. 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. 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.