Polycythemia vera differential diagnosis: Difference between revisions
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Polycythemia vera must be differentiated from a variety of other conditions.<ref name="pmid25611051">{{cite journal| author=Tefferi A, Barbui T| title=Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. | journal=Am J Hematol | year= 2015 | volume= 90 | issue= 2 | pages= 162-73 | pmid=25611051 | doi=10.1002/ajh.23895 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25611051 }} </ref><ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015 }} </ref><ref name="pmid24729196">{{cite journal| author=Jabbour E, Kantarjian H| title=Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management. | journal=Am J Hematol | year= 2014 | volume= 89 | issue= 5 | pages= 547-56 | pmid=24729196 | doi=10.1002/ajh.23691 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24729196 }} </ref> | Polycythemia vera must be differentiated from a variety of other conditions.<ref name="pmid25611051">{{cite journal| author=Tefferi A, Barbui T| title=Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. | journal=Am J Hematol | year= 2015 | volume= 90 | issue= 2 | pages= 162-73 | pmid=25611051 | doi=10.1002/ajh.23895 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25611051 }} </ref><ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015 }} </ref><ref name="pmid24729196">{{cite journal| author=Jabbour E, Kantarjian H| title=Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management. | journal=Am J Hematol | year= 2014 | volume= 89 | issue= 5 | pages= 547-56 | pmid=24729196 | doi=10.1002/ajh.23691 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24729196 }} </ref> | ||
{| | {| | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease | |||
!Etiology | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology | ||
!Symptoms | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms | ||
!Signs | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs | ||
!Laboratory abnormalities | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Laboratory abnormalities | ||
!Treatment | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Treatment | ||
!Other associated abnormalities | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other associated abnormalities | ||
|- | |- | ||
! align="center" style="background:#DCDCDC;" |[[Polycythemia vera (PV)]] | |||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[JAK2]] mutation (V617F or exon 12 mutation) in more than 95% of cases | * [[JAK2]] mutation (V617F or exon 12 mutation) in more than 95% of cases | ||
* Autonomous erythrocyte production | * Autonomous erythrocyte production | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Erythromelagia]] | * [[Erythromelagia]] | ||
* [[Headache]] | * [[Headache]] | ||
* [[Stroke]]-like symptoms | * [[Stroke]]-like symptoms | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Ruddy face]] | * [[Ruddy face]] | ||
* [[Splenomegaly]] | * [[Splenomegaly]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Elevated [[hemoglobin]] | * Elevated [[hemoglobin]] | ||
* Elevated [[red blood cell]] mass | * Elevated [[red blood cell]] mass | ||
* Elevated [[white blood cell]] count and [[platelet]] count in some cases (panmyelosis) | * Elevated [[white blood cell]] count and [[platelet]] count in some cases (panmyelosis) | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Aspirin]] | * [[Aspirin]] | ||
* [[Ruxolitinib]] | * [[Ruxolitinib]] | ||
| Line 38: | Line 38: | ||
* [[Phlebotomy]] | * [[Phlebotomy]] | ||
* [[Interferon-alpha]] | * [[Interferon-alpha]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Extramedullary hematopoiesis]] | * [[Extramedullary hematopoiesis]] | ||
* [[Stroke]] | * [[Stroke]] | ||
| Line 44: | Line 44: | ||
* Can progress to post-PV [[myelofibrosis]] and eventually [[acute leukemia]] | * Can progress to post-PV [[myelofibrosis]] and eventually [[acute leukemia]] | ||
|- | |- | ||
! align="center" style="background:#DCDCDC;" |[[Essential thrombocythemia]] (ET) | |||
| | | align="left" style="background:#F5F5F5;" | | ||
* Clonal proliferation of megakaryocytes | * Clonal proliferation of megakaryocytes | ||
* Excess [[platelet]] production | * Excess [[platelet]] production | ||
* Caused by JAK2 mutation in 50% of cases | * Caused by JAK2 mutation in 50% of cases | ||
* Caused by CALR mutation in some cases | * Caused by CALR mutation in some cases | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Stroke-like symptoms | * Stroke-like symptoms | ||
* [[Fatigue]] | * [[Fatigue]] | ||
* Bleeding due to dysfunctional platelets and acquired [[von Willebrand disease]] | * Bleeding due to dysfunctional platelets and acquired [[von Willebrand disease]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Splenomegaly]] | * [[Splenomegaly]] | ||
* Bruising | * Bruising | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Elevated total [[platelet]] count | * Elevated total [[platelet]] count | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Aspirin]] | * [[Aspirin]] | ||
* [[Hydroyurea]] | * [[Hydroyurea]] | ||
* [[Anagrelide]] | * [[Anagrelide]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease | * Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease | ||
* Can progress to post-ET myelofibrosis | * Can progress to post-ET myelofibrosis | ||
* Can develop into acute leukemia | * Can develop into acute leukemia | ||
|- | |- | ||
! align="center" style="background:#DCDCDC;" |[[Chronic myeloid leukemia]] (CML) | |||
| | | align="left" style="background:#F5F5F5;" | | ||
* 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, which drives cell proliferation | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Abdominal pain]] | * [[Abdominal pain]] | ||
* [[Infection|Infections]] | * [[Infection|Infections]] | ||
* [[Fever]] | * [[Fever]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Splenomegaly]] | * [[Splenomegaly]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Elevated total [[white blood cell count]] | * Elevated total [[white blood cell count]] | ||
* Elevated [[red blood cell]] count and [[platelet]] count occasionally | * Elevated [[red blood cell]] count and [[platelet]] count occasionally | ||
* Increased proportion of metamyelocytes and other [[white blood cells]] at various stages of maturation | * Increased proportion of metamyelocytes and other [[white blood cells]] at various stages of maturation | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Imatinib]] | * [[Imatinib]] | ||
* [[Dasatinib]] | * [[Dasatinib]] | ||
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* [[Ponatinib]] for T315I kinase domain mutation | * [[Ponatinib]] for T315I kinase domain mutation | ||
* [[Interferon-alpha]] | * [[Interferon-alpha]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Can appear similar to [[leukemoid reaction]] | * Can appear similar to [[leukemoid reaction]] | ||
|- | |- | ||
|[[Primary myelofibrosis]] (PMF) | ! align="center" style="background:#DCDCDC;" |[[Primary myelofibrosis]] (PMF) | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Clonal disorder of [[megakaryocytes]] | * Clonal disorder of [[megakaryocytes]] | ||
* Excess production [[TGF-beta]] and [[collagen]] | * Excess production [[TGF-beta]] and [[collagen]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Fatigue]] | * [[Fatigue]] | ||
* [[Abdominal pain]] | * [[Abdominal pain]] | ||
* Early satiety | * Early satiety | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Splenomegaly]] | * [[Splenomegaly]] | ||
* [[Hepatomegaly]] | * [[Hepatomegaly]] | ||
* [[Pallor]] | * [[Pallor]] | ||
* [[Bruising]] | * [[Bruising]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Decreased [[hemoglobin]] (anemia) | * Decreased [[hemoglobin]] (anemia) | ||
* Decreased [[platelet]] count (thrombocytopenia) | * Decreased [[platelet]] count (thrombocytopenia) | ||
* Decreased [[white blood cell]] count (leukopenia) | * Decreased [[white blood cell]] count (leukopenia) | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Hydroxyurea]] | * [[Hydroxyurea]] | ||
* [[Stem cell transplant]] | * [[Stem cell transplant]] | ||
* [[Ruxolitinib]] | * [[Ruxolitinib]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Variable risk for development of [[acute leukemia]] | * Variable risk for development of [[acute leukemia]] | ||
|- | |- | ||
! align="center" style="background:#DCDCDC;" |Secondary polycythemia | |||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Congestive heart failure]] (CHF) | * [[Congestive heart failure]] (CHF) | ||
* [[Interstitial lung disease]] (ILD) | * [[Interstitial lung disease]] (ILD) | ||
| Line 125: | Line 125: | ||
* 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 | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Headache]] | * [[Headache]] | ||
* [[Fatigue]] | * [[Fatigue]] | ||
* [[Shortness of breath]] | * [[Shortness of breath]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* [[Crackles]] | * [[Crackles]] | ||
* [[Cyanosis]] | * [[Cyanosis]] | ||
* [[Tachypnea]] | * [[Tachypnea]] | ||
* [[Tachycardia]] | * [[Tachycardia]] | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Elevated [[hemoglobin]] | * Elevated [[hemoglobin]] | ||
* Increased [[erythropoietin]] level | * Increased [[erythropoietin]] level | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Treatment of underlying cause of [[hypoxia]] | * Treatment of underlying cause of [[hypoxia]] | ||
* Supplemental oxygen | * Supplemental oxygen | ||
| Line 145: | Line 145: | ||
* [[Smoking cessation]] or nicotine replacement | * [[Smoking cessation]] or nicotine replacement | ||
* Surgical removal of tumors | * Surgical removal of tumors | ||
| | | align="left" style="background:#F5F5F5;" | | ||
* Variable manifestations given the diverse etiologies | * Variable manifestations given the diverse etiologies | ||
|- | |- | ||
Revision as of 14:18, 27 August 2018
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Polycythemia vera Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Polycythemia vera differential diagnosis On the Web |
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American Roentgen Ray Society Images of Polycythemia vera differential diagnosis |
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Risk calculators and risk factors for Polycythemia vera differential diagnosis |
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) |
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| Essential thrombocythemia (ET) |
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| Chronic myeloid leukemia (CML) |
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| Primary myelofibrosis (PMF) |
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| Secondary polycythemia |
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References
- ↑ 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.
- ↑ 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.
- ↑ 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.