Polycythemia vera differential diagnosis: Difference between revisions

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{|
{|
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
!
!
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
!
!
!
!
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Laboratory abnormalities
!
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination
!
!Signs
!
!
!
!
!
!
!
!
!
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Treatment
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Treatment
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other associated abnormalities
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other associated abnormalities
|-
!
! colspan="2" |Mutation
!
!
!
!
!
!
!
!
!
!
!
! colspan="4" |CBC
!
!
!
!
!
|-
!
![[JAK2]] mutation
!CALR mutation
!
!Fatigue
!Headache
!Bleeding
!Pain
!Other
!Appearance
!Fever
!Tenderness
!Splenomegaly
!Other
!Hb
!RBC
!WBC
!Plt
!Erythropoietin level
!PBS
!PT/PTT
!
!
|-
|-
! align="center" style="background:#DCDCDC;" |[[Polycythemia vera (PV)]]   
! align="center" style="background:#DCDCDC;" |[[Polycythemia vera (PV)]]   
|> 95%
|
|
|
* [[JAK2]] mutation (V617F or exon 12 mutation) in more than 95% of cases
* Autonomous erythrocyte production
* Autonomous erythrocyte production
|
| +
| -
|
|
* [[Erythromelagia]]
* [[Erythromelagia]]
* [[Headache]]
|
* [[Stroke]]-like symptoms
* [[Stroke]]-like symptoms
|[[Ruddy face]]
| -
| -
| +
|NA
|↑
|↑ RBC mass
|Nl to ↑
|Nl to ↑
|
|
|
* Elevated [[hemoglobin]]
* Elevated [[red blood cell]] mass
* Elevated [[white blood cell]] count and [[platelet]] count in some cases (panmyelosis)
|
|
* [[Ruddy face]]
* [[Splenomegaly]]
|
|
* [[Aspirin]]
* [[Aspirin]]
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* [[Interferon-alpha]]
* [[Interferon-alpha]]
|
|
* [[Extramedullary hematopoiesis]]
* [[Stroke]]
* [[Stroke]]
* [[Venous thrombosis]]
* [[Venous thrombosis]]
* Can progress to post-PV [[myelofibrosis]] and eventually [[acute leukemia]]
* Myelofibrosis
* Acute leukemia
|-
|-
! align="center" style="background:#DCDCDC;" |[[Essential thrombocythemia]] (ET)   
! align="center" style="background:#DCDCDC;" |[[Essential thrombocythemia]] (ET)   
|50%
| +/-
|
|
* Clonal proliferation of megakaryocytes
* Clonal proliferation of megakaryocytes
* Excess [[platelet]] production
* Excess [[platelet]] production
* Caused by JAK2 mutation in 50% of cases
| +
* Caused by CALR mutation in some cases
|
| + (paradoxical)
|
|
|
* Stroke-like symptoms
* Stroke-like symptoms
* [[Fatigue]]
* Bleeding due to dysfunctional platelets and acquired [[von Willebrand disease]]
|
|
* Elevated total [[platelet]] count
|
|
* [[Splenomegaly]]
|
* Bruising
| +
|Bruises
|
|
|
|↑ (dysfunctional platelets)
|
|
|
|
|
* [[Aspirin]]
* [[Aspirin]]
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* [[Anagrelide]]
* [[Anagrelide]]
|
|
* Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease
* Acquired von Willebrand disease
* Can progress to post-ET myelofibrosis
* Myelofibrosis
* Can develop into acute leukemia
* Acute leukemia
|-
|-
! align="center" style="background:#DCDCDC;" |[[Chronic myeloid leukemia]] (CML)   
! align="center" style="background:#DCDCDC;" |[[Chronic myeloid leukemia]] (CML)   
|
|
|
|
* Reciprocal translocation of chromosomes 9 and 22
* Reciprocal translocation of chromosomes 9 and 22
* Production of BCR-Abl kinase, which drives cell proliferation
* Production of BCR-Abl kinase
| +
| +
| +
|[[Abdominal pain]]
|
|
|
* [[Abdominal pain]]
| +
* [[Infection|Infections]]
* [[Fever]]
|
|
* Elevated total [[white blood cell count]]
| +
* Elevated [[red blood cell]] count and [[platelet]] count occasionally
|
* Increased proportion of metamyelocytes and other [[white blood cells]] at various stages of maturation
|↑
|↑
|↑
|↑
|
|Elevated metamyelocytes and other [[white blood cells]] at various stages of maturation
|
|
* [[Splenomegaly]]
|
|
* [[Imatinib]]
* [[Imatinib]]
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|-
|-
! align="center" style="background:#DCDCDC;" |[[Primary myelofibrosis]] (PMF)  
! align="center" style="background:#DCDCDC;" |[[Primary myelofibrosis]] (PMF)  
|
|
|
|
* Clonal disorder of [[megakaryocytes]]
* Clonal disorder of [[megakaryocytes]]
* Excess production [[TGF-beta]] and [[collagen]]
* Excess production [[TGF-beta]] and [[collagen]]
| +
|
| +
|[[Abdominal pain]]
|
|
* [[Fatigue]]
* [[Abdominal pain]]
* Early satiety
* Early satiety
|Pallor
|
|
|
* Decreased [[hemoglobin]] (anemia)
| +
* Decreased [[platelet]] count (thrombocytopenia)
* Decreased [[white blood cell]] count (leukopenia)
|
|
* [[Splenomegaly]]
* [[Hepatomegaly]]
* [[Hepatomegaly]]
* [[Pallor]]
* [[Bruising]]
* [[Bruising]]
|↓
|↓
|↓
|↓
|
|
|
|
|
* [[Hydroxyurea]]
* [[Hydroxyurea]]
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|-
|-
! align="center" style="background:#DCDCDC;" |Secondary polycythemia   
! align="center" style="background:#DCDCDC;" |Secondary polycythemia   
| -
| -
|
|
* [[Congestive heart failure]] (CHF)
* [[Congestive heart failure]] (CHF)
* [[Interstitial lung disease]] (ILD)
* [[Interstitial lung disease]] (ILD)
* [[Obstructive sleep apnea]] (OSA)
* [[Obstructive sleep apnea]] (OSA)
* Smoking
* Chronic [[hypoxia]]
* High altitude living
* 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
| +
| +
| -
|Depends on etiology
|
|
* [[Headache]]
* [[Fatigue]]
* [[Shortness of breath]]
* [[Shortness of breath]]
|[[Cyanosis]]
|
|
|
|
* Elevated [[hemoglobin]]
* Increased [[erythropoietin]] level
|
|
* [[Crackles]]
* [[Crackles]]
* [[Cyanosis]]
* [[Tachypnea]]
* [[Tachypnea]]
* [[Tachycardia]]
* [[Tachycardia]]
|↑
|
|
|
|↑
|
|
|
|
* Treatment of underlying cause of [[hypoxia]]
* Treatment of underlying cause of [[hypoxia]]
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==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 17:23, 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 Etiology Symptoms Signs Treatment Other associated abnormalities
Mutation CBC
JAK2 mutation CALR mutation Fatigue Headache Bleeding Pain Other Appearance Fever Tenderness Splenomegaly Other Hb RBC WBC Plt Erythropoietin level PBS PT/PTT
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)
  • Acquired von Willebrand disease
  • Myelofibrosis
  • Acute leukemia
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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