Polycythemia differential diagnosis: Difference between revisions

Jump to navigation Jump to search
Line 9: Line 9:


{|
{|
!
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! colspan="2" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
! colspan="2" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
Line 17: Line 18:
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings
|-
|-
!
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
Line 23: Line 25:
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS
|-
|-
!
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |JAK2 mutation  
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |JAK2 mutation  
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CALR mutation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CALR mutation
Line 40: Line 43:
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt
|-
|-
! align="center" style="background:#DCDCDC;" |[[Polycythemia vera (PV)]]  
!
! align="center" style="background:#DCDCDC;" |Polycythemia vera (PV)   
| align="center" style="background:#F5F5F5;" |> 95%
| align="center" style="background:#F5F5F5;" |> 95%
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
Line 74: Line 78:
* [[Acute leukemia]]
* [[Acute leukemia]]
|-
|-
! align="center" style="background:#DCDCDC;" |[[Essential thrombocythemia]] (ET) 
!
| align="center" style="background:#F5F5F5;" |50%
!
| align="center" style="background:#F5F5F5;" | +/-
!
| align="left" style="background:#F5F5F5;" |
!
* Clonal proliferation of megakaryocytes
!
* Excess [[platelet]] production
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" | + (paradoxical)
!
| align="center" style="background:#F5F5F5;" |
!
| align="left" style="background:#F5F5F5;" |
!
* Stroke-like symptoms
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" |[[Bruises]]
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |↑ (dysfunctional platelets)
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="left" style="background:#F5F5F5;" |
|-
* [[Aspirin]]
!
* [[Hydroyurea]]
!
* [[Anagrelide]]
!
| align="left" style="background:#F5F5F5;" |
!
* Acquired [[von Willebrand disease]]
!
* [[Myelofibrosis]]
!
* [[Acute leukemia]]
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
|-
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
|-
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
|-
|-
! align="center" style="background:#DCDCDC;" |[[Chronic myeloid leukemia]] (CML) 
!
| align="center" style="background:#F5F5F5;" | -
!
| align="center" style="background:#F5F5F5;" | -
!
| align="left" style="background:#F5F5F5;" |
!
* Reciprocal translocation of chromosomes 9 and 22
!
* Production of BCR-Abl kinase
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" |[[Abdominal pain]]
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |↑
!
| align="center" style="background:#F5F5F5;" |↑
!
| align="center" style="background:#F5F5F5;" |↑
!
| align="center" style="background:#F5F5F5;" |↑
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |Elevated metamyelocytes and other [[white blood cells]] at various stages of maturation
!
| align="left" style="background:#F5F5F5;" |
!
* [[Imatinib]]
* [[Dasatinib]]
* [[Bosutinib]]
* [[Nilotinib]]
* [[Ponatinib]] for T315I kinase domain mutation
* [[Interferon-alpha]]
| align="left" style="background:#F5F5F5;" |
* Can appear similar to [[leukemoid reaction]]
|-
|-
! align="center" style="background:#DCDCDC;" |[[Primary myelofibrosis]] (PMF)
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="left" style="background:#F5F5F5;" |
!
* Clonal disorder of [[megakaryocytes]]
!
* Excess production [[TGF-beta]] and [[collagen]]
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" | +
!
| align="center" style="background:#F5F5F5;" |[[Abdominal pain]]
!
| align="left" style="background:#F5F5F5;" |
!
* Early satiety
!
| align="center" style="background:#F5F5F5;" |Pallor
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" |
!
| align="center" style="background:#F5F5F5;" | +
!
| align="left" style="background:#F5F5F5;" |
!
* [[Hepatomegaly]]
!
* [[Bruising]]
!
| align="center" style="background:#F5F5F5;" |↓
!
| align="center" style="background:#F5F5F5;" |↓
!
| align="center" style="background:#F5F5F5;" |↓
!
| align="center" style="background:#F5F5F5;" |↓
!
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* [[Hydroxyurea]]
* [[Stem cell transplant]]
* [[Ruxolitinib]]
| align="left" style="background:#F5F5F5;" |
* Variable risk for development of [[acute leukemia]]
|-
|-
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to chronic hypoxia  
!
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to hypoxemia  
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* [[Congestive heart failure]] (CHF)
* Chronic lung disease
* [[Interstitial lung disease]] (ILD)
* [[Right-to-left shunt|Right-to-left cardiac shunts]]
* [[Obstructive sleep apnea]] (OSA)
* [[Sleep apnea]]
* Smoking
* [[Altitude sickness|High altitude]]
*
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
Line 203: Line 257:
* Variable manifestations given the diverse etiologies
* Variable manifestations given the diverse etiologies
|-
|-
!
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to [[erythropoietin]] producing tumor
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to [[erythropoietin]] producing tumor
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |  
| align="left" style="background:#F5F5F5;" |  
* Renal cell carcinoma
*[[Renal cell carcinoma]]
* Hepatocellular carcinoma
*[[Hepatocellular carcinoma]]
*Cerebellar [[hemangioblastoma]]
*[[Pheochromocytoma]]
*[[Leiomyoma|Uterine fibroids]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
Line 233: Line 291:
* Variable manifestations given the diverse etiologies
* Variable manifestations given the diverse etiologies
|-
|-
!
! 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;" |JAK2 mutation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |JAK2 mutation

Revision as of 15:53, 21 August 2018

Polycythemia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Polycythemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Polycythemia differential diagnosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Polycythemia differential diagnosis

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Polycythemia differential diagnosis

CDC on Polycythemia differential diagnosis

Polycythemia differential diagnosis in the news

Blogs on Polycythemia differential diagnosis

Directions to Hospitals Treating Polycythemia

Risk calculators and risk factors for Polycythemia differential diagnosis

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

Overview

Differential Diagnosis of Polycythemia

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

Disease Mutation Etiology Clinical manifestations Laboratory findings Treatment Associated findings
Symptoms Signs CBC Erythropoietin level PBS
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 ↑
Secondary polycythemia due to hypoxemia - - + + - Depends on etiology Cyanosis - Nl Nl
  • Treatment of underlying cause
  • Variable manifestations given the diverse etiologies
Secondary polycythemia due to erythropoietin producing tumor - - + - - Depends on etiology Depends on etiology Chronically ill +/- +/- - ↑/↓ ↑/↓ Nl
  • Surgery
  • Chemotherapy
  • Variable manifestations given the diverse etiologies
Disease JAK2 mutation CALR mutation Etiology Fatigue Headache Bleeding Pain Other symptoms Appearance Fever Tenderness Splenomegaly Other signs Hb RBC WBC Plt Erythropoietin level PBS Treatment Associated findings

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.