Polycythemia vera differential diagnosis: Difference between revisions

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! align="center" style="background:#DCDCDC;" |[[Chronic myeloid leukemia]] (CML)   
! align="center" style="background:#DCDCDC;" |[[Chronic myeloid leukemia]] (CML)   
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* Reciprocal translocation of chromosomes 9 and 22
* Reciprocal translocation of chromosomes 9 and 22
* Production of BCR-Abl kinase
* Production of BCR-Abl kinase
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|[[Abdominal pain]]
| align="center" style="background:#F5F5F5;" |[[Abdominal pain]]
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|Elevated metamyelocytes and other [[white blood cells]] at various stages of maturation
| align="center" style="background:#F5F5F5;" |Elevated metamyelocytes and other [[white blood cells]] at various stages of maturation
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* [[Imatinib]]
* [[Imatinib]]
* [[Dasatinib]]
* [[Dasatinib]]
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* [[Ponatinib]] for T315I kinase domain mutation
* [[Ponatinib]] for T315I kinase domain mutation
* [[Interferon-alpha]]
* [[Interferon-alpha]]
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* Can appear similar to [[leukemoid reaction]]
* Can appear similar to [[leukemoid reaction]]
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! align="center" style="background:#DCDCDC;" |[[Primary myelofibrosis]] (PMF)  
! align="center" style="background:#DCDCDC;" |[[Primary myelofibrosis]] (PMF)  
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* Clonal disorder of [[megakaryocytes]]
* Clonal disorder of [[megakaryocytes]]
* Excess production [[TGF-beta]] and [[collagen]]
* Excess production [[TGF-beta]] and [[collagen]]
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|[[Abdominal pain]]
| align="center" style="background:#F5F5F5;" |[[Abdominal pain]]
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* Early satiety
* Early satiety
|Pallor
| align="center" style="background:#F5F5F5;" |Pallor
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* [[Hepatomegaly]]
* [[Hepatomegaly]]
* [[Bruising]]
* [[Bruising]]
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* [[Hydroxyurea]]
* [[Hydroxyurea]]
* [[Stem cell transplant]]
* [[Stem cell transplant]]
* [[Ruxolitinib]]
* [[Ruxolitinib]]
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* Variable risk for development of [[acute leukemia]]
* Variable risk for development of [[acute leukemia]]
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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]] (CHF)
* [[Interstitial lung disease]] (ILD)
* [[Interstitial lung disease]] (ILD)
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* Chronic [[hypoxia]]  
* Chronic [[hypoxia]]  
* Ectopic [[erythropoietin]] production from tumor (renal cell carcinoma or hepatocellular carcinoma)
* Ectopic [[erythropoietin]] production from tumor (renal cell carcinoma or hepatocellular carcinoma)
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|Depends on etiology
| align="center" style="background:#F5F5F5;" |Depends on etiology
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* [[Shortness of breath]]
* [[Shortness of breath]]
|[[Cyanosis]]
| align="center" style="background:#F5F5F5;" |[[Cyanosis]]
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* [[Crackles]]
* [[Crackles]]
* [[Tachypnea]]
* [[Tachypnea]]
* [[Tachycardia]]
* [[Tachycardia]]
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* Treatment of underlying cause of [[hypoxia]]
* Treatment of underlying cause of [[hypoxia]]
* Supplemental oxygen
* Supplemental oxygen
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* [[Smoking cessation]] or nicotine replacement
* [[Smoking cessation]] or nicotine replacement
* Surgical removal of tumors
* Surgical removal of tumors
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* Variable manifestations given the diverse etiologies
* Variable manifestations given the diverse etiologies
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Revision as of 17:35, 20 August 2018

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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 Mutation Etiology Symptoms Signs laboratory data Treatment Associated findings
CBC Erythropoietin level PBS PT/PTT
JAK2 mutation CALR mutation Fatigue Headache Bleeding Pain Other symptoms Appearance Fever Tenderness Splenomegaly Other signs Hb RBC WBC Plt
Polycythemia vera (PV) > 95% Autonomous erythrocyte production + - Ruddy face - - + NA ↑ ↑ RBC mass Nl to ↑ Nl to ↑
Essential thrombocythemia (ET) 50% +/-
  • Clonal proliferation of megakaryocytes
  • Excess platelet production
 + + (paradoxical)
  • Stroke-like symptoms
 + Bruises ↑ (dysfunctional platelets)
Chronic myeloid leukemia (CML) - -
  • Reciprocal translocation of chromosomes 9 and 22
  • Production of BCR-Abl kinase
 + + + Abdominal pain + + ↑ ↑ ↑ ↑ Elevated metamyelocytes and other white blood cells at various stages of maturation
Primary myelofibrosis (PMF) + + Abdominal pain
  • Early satiety
 Pallor + ↓ ↓ ↓ ↓
Secondary polycythemia - - + + - Depends on etiology Cyanosis ↑ ↑
  • 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.
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