Polycythemia vera differential diagnosis: Difference between revisions

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Polycythemia vera must be differentiated from [[chronic myelogenous leukemia]], [[essential thrombocythemia]], and [[primary myelofibrosis]].<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>
Polycythemia vera must be differentiated from [[chronic myelogenous leukemia]], [[essential thrombocythemia]], and [[primary myelofibrosis]].<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>
==Differential Diagnosis==
==Differential Diagnosis==
Polycythemia vera must be differentiated from the:<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.
 
{| class="wikitable"
!Characteristic/Parameter
!Etiology
!Symptoms
!Laboratory abnormalities
!Physical examination
!Treatment
!Other associated abnormalities
|-
||[[Polycythemia vera]] 
|
* JAK2 mutation (V617F or exon 12 mutation)
* Autonomous erythrocyte production
|
* Erythromelagia
* Headache
* Stroke-like symptoms
|
* Elevated [[hemoglobin]]
* Elevated [[red blood cell]] mass
* Elevated [[white blood cell]] count and [[platelet]] count in some cases (panmyelosis)
|
* [[Ruddy face]]
* [[Splenomegaly]]
|
* Aspirin
* Ruxolitinib
* Hydroxyurea
* Phlebotomy
* Interferon-alpha
|
* [[Extramedullary hematopoiesis]]
* [[Stroke]]
* [[Venous thrombosis]]|
-
||[[Chronic myeloid leukemia]] 
|
* Abdominal pain
* Infections
* Fever
|
* [[Microcytic]] (<80 femtoliter) or normocytic
|
* Abnormal [[hemoglobin]] [[electrophoresis]] with elevated HbSS fraction
* Sickled [red blood cells]] on peripheral blood smear
* Elevated ferritin (due to frequent transfusions and iron overload)
* Elevated [[red blood cell]] mass
|
* Vaso-occlusion in peripheral vascular beds
* [[Jaundice]] from hemolysis
* [[Hepatomegaly]]
* [[Splenomegaly]]
|
* Folate supplemention
* Hydroxyurea (to increase fetal [[hemoglobin]] production
* Oxygen supplemention
* [[Blood transfusion|Transfusion]] support
* [[Iron]] chelation
* [[Gene therapy]] if available
* Crizanlizumab (P-selectin inhibitor)
* Patient education and genetic counseling
|
* [[Extramedullary hematopoiesis]]
* Pain crises
* Acute chest syndrome
|-
|[[Iron deficiency anemia]]
|
* Loss of [[iron]] from occult bleeding
* [[Gastrointestinal]] [[blood loss]]
* [[Menstrual]] [[blood loss]]
* Dietary iron deficiency
|
* [[Microcytic]] (<80 femtoliter)
|
* Low serum [[iron]]
* Elevated [[transferrin]]
* Low [[transferrin saturation]]
* Low [[ferritin]]
|
* [[Pallor]]
* [[Weakness]]
* Positive [[occult blood]] testing (if [[Gastrointestinal bleeding|GI bleeding]])
|
* Intravenous or oral iron supplementation
* Blood transfusions
|
* [[Blood loss|Chronic blood loss]]
|-
|[[Hemolytic anemia]] 
|
* Medication-induced
* [[Autoimmunity]]
* [[Red blood cell]] membrane defect
* [[Red blood cell]] enzyme defect
* Shear stress from mechanical valves
|
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Indirect [[hyperbilirubinemia]]
* [[Reticulocytosis]]
* Low [[haptoglobin]]
* Elevated [[LDH]]
|
* [[Pallor]]
* [[Jaundice]]
|
* Removal of offending agent causing hemolysis
* [[Steroids]]
* Alternative [[immunosuppression]]
|
* [[HELLP syndrome]]
* [[TTP]]
* [[Chronic lymphocytic leukemia|CLL]]
|-
|[[Sideroblastic anemia]]
|
* [[Alcoholism]]
* [[Lead poisoning]]
* [[Vitamin B6 deficiency]]
* [[Isoniazid]]
* [[Chloramphenicol]]
|
* [[Microcytic anemia|Microcytic]] (<80 femtoliter)
Or
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Ringed sideroblasts in [[bone marrow]]
* Low [[vitamin B6]] level
* High [[lead]] level
|
* [[Pallor]]
 
* [[Muscle weakness|Weakness]]
|
* Removal of offending [[medication]]
* High-dose [[vitamin B6]] (up to 200mg daily)
* Avoidance of [[splenectomy]]
* Symptomatic [[Blood transfusion|transfusion]] support with [[iron]] [[chelation]] as needed
|
* [[Myelodysplastic syndrome]]
* [[Myeloproliferative neoplasm]]
* [[Iron overload]]
|-
|[[Anemia of chronic disease]]
|
* [[Chronic kidney disease]]
* [[Rheumatologic disease]]
* [[Cancer]]
* [[HIV]]
* Chronic infection; excess release of [[IL-1]] and [[IL-6]]
|
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Elevated [[ESR]] and [[CRP]]
* Elevated [[hepcidin]]
* Low serum [[iron]]
* Low [[transferrin]]
* Elevated [[ferritin]]
|
* [[Pallor]]
 
* [[Weakness]]
|
* Treatment of the underlying cause; [[erythropoiesis]]-stimulating agents
* Supportive [[Red blood cell transfusion|red blood cell transfusions]]
|
* [[Inflammatory bowel disease]]
|-
|[[Erythropoietin]] deficiency
|
* [[Chronic kidney disease]] or other [[renal dysfunction]]
|
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Low [[Erythropoietin|erythropoietin level]]
|
* [[Pallor]]
* [[Weakness]]
* Signs of [[chronic kidney disease]]
|
* [[Epoetin alfa]] 50-100 units/kg 3 times weekly
* Darbepoietin 0.45 mcg/kg weekly or 0.75 mcg/kg every 2 weeks<ref name="pmid28626220">{{cite journal| author=Platzbecker U, Symeonidis A, Oliva EN, Goede JS, Delforge M, Mayer J et al.| title=A phase 3 randomized placebo-controlled trial of darbepoetin alfa in patients with anemia and lower-risk myelodysplastic syndromes. | journal=Leukemia | year= 2017 | volume= 31 | issue= 9 | pages= 1944-1950 | pmid=28626220 | doi=10.1038/leu.2017.192 | pmc=5596208 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28626220  }} </ref>
|
* [[Dialysis]] dependence
* [[Myelodysplastic syndrome]]
|-
|[[Vitamin B12 deficiency|Vitamin B12]] or [[folate deficiency]]
|
* [[Pernicious anemia]]
* [[Diphyllobothrium latum infection]]
* [[Nutritional deficiency]]
* [[Crohn's disease|Crohn's disease of terminal ileum]]
|
* [[Macrocytic anemia|Macrocytic]] (>100 femtoliter)
|
* Low vitamin B12 or folate level
* [[Megaloblastic anemia]] with  hypersegmented [[neutrophils]]
|
* [[Numbness]]
* [[Weakness]]
* [[Tingling]]
* [[Paresthesias]]
|
* [[Vitamin B12]] 1000mcg daily
* [[Folate]] 1mg daily
|
* [[Neuropathy]]
|}
 
 
:<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>
*[[Chronic myelogenous leukemia]]
*[[Chronic myelogenous leukemia]]
*[[Essential thrombocythemia]]
*[[Essential thrombocythemia]]

Revision as of 23:00, 28 January 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]

Overview

Polycythemia vera must be differentiated from chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis.[1][2]

Differential Diagnosis

Polycythemia vera must be differentiated from a variety of other conditions.

Characteristic/Parameter Etiology Symptoms Laboratory abnormalities Physical examination Treatment Other associated abnormalities
Polycythemia vera
  • JAK2 mutation (V617F or exon 12 mutation)
  • Autonomous erythrocyte production
  • Erythromelagia
  • Headache
  • Stroke-like symptoms
  • Aspirin
  • Ruxolitinib
  • Hydroxyurea
  • Phlebotomy
  • Interferon-alpha

-

Chronic myeloid leukemia
  • Abdominal pain
  • Infections
  • Fever
  • Abnormal hemoglobin electrophoresis with elevated HbSS fraction
  • Sickled [red blood cells]] on peripheral blood smear
  • Elevated ferritin (due to frequent transfusions and iron overload)
  • Elevated red blood cell mass
  • Folate supplemention
  • Hydroxyurea (to increase fetal hemoglobin production
  • Oxygen supplemention
  • Transfusion support
  • Iron chelation
  • Gene therapy if available
  • Crizanlizumab (P-selectin inhibitor)
  • Patient education and genetic counseling
Iron deficiency anemia
  • Intravenous or oral iron supplementation
  • Blood transfusions
Hemolytic anemia
Sideroblastic anemia

Or

Anemia of chronic disease
Erythropoietin deficiency
  • Epoetin alfa 50-100 units/kg 3 times weekly
  • Darbepoietin 0.45 mcg/kg weekly or 0.75 mcg/kg every 2 weeks[3]
Vitamin B12 or folate deficiency


[1][2][4]

References

  1. 1.0 1.1 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. 2.0 2.1 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. Platzbecker U, Symeonidis A, Oliva EN, Goede JS, Delforge M, Mayer J; et al. (2017). "A phase 3 randomized placebo-controlled trial of darbepoetin alfa in patients with anemia and lower-risk myelodysplastic syndromes". Leukemia. 31 (9): 1944–1950. doi:10.1038/leu.2017.192. PMC 5596208. PMID 28626220.
  4. 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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