Essential thrombocytosis laboratory findings: Difference between revisions

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==Overview==
==Overview==
Laboratory findings consistent with the diagnosis of essential thrombocytosis include abnormal [[complete blood count]] ([[CBC]]), elevated platelet count, peripheral blood smear showing large platelets, megakaryocyte fragments and platelet aggregates, presence of ''[[JAK2]]'' mutation and absence of ''BCR-ABL'' or [[Philadelphia chromosome]].<ref>Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.</ref> [[Leukocytosis]], [[erythrocytosis]], and mild [[anemia]] may be present. Bone marrow biopsy is an important test and needed to make a diagnosis of essential thrombocytosis as per WHO definition<ref name="pmidhttp://dx.doi.org/10.1182/blood-2007-04-083501">{{cite journal| author=Schmoldt A, Benthe HF, Haberland G| title=Digitoxin metabolism by rat liver microsomes. | journal=Biochem Pharmacol | year= 1975 | volume= 24 | issue= 17 | pages= 1639-41 | pmid=http://dx.doi.org/10.1182/blood-2007-04-083501 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10 }} </ref>.  
Laboratory findings consistent with the diagnosis of essential thrombocytosis include abnormal complete blood count (elevated platelet count, leukocytosis, erythrocytosis), peripheral blood smear showing large platelets, megakaryocyte fragments and platelet aggregates, presence of ''[[JAK2]]'' mutation, and absence of ''BCR-ABL'' or [[Philadelphia chromosome]].<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=re>Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.</ref>


==Laboratory findings==
==Laboratory findings==
Essential thrombocytosis remains a diagnosis of exclusion that needs to rule out reactive or secondary causes of thrombocytosis . Laboratory tests for the diagnosis of essential thrombocytosis include the following<ref>Essential Thrombocytosis Workup. Medscape. http://emedicine.medscape.com/article/206697-workup#c8. Accessed on November 10th, 2015</ref>:
Essential thrombocytosis remains a diagnosis of exclusion, after ruling out reactive or secondary causes of thrombocytosis. Laboratory tests for the diagnosis of essential thrombocytosis include the following:<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>
*Complete blood count ([[CBC]])
*Complete blood count ([[CBC]])
**Elevated platelet count
**Elevated platelet count
**[[Leukocytosis]], [[erythrocytosis]], and mild anemia may be present
**[[Leukocytosis]] and [[erythrocytosis]] may be present
*Peripheral blood smear shows large platelets, megakaryocyte fragments and platelet aggregates<ref>Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.</ref>
**Red cells are [[normocytic]] and [[normochromic]], unless the patient had significant hemorrhage.
*Peripheral blood smear shows large platelets, megakaryocyte fragments and platelet aggregates.<ref name=re>Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.</ref>
*To rule out inflammatory disorders
*To rule out inflammatory disorders
**Erythrocyte sedimentation rate ([[ESR]])
**Erythrocyte sedimentation rate ([[ESR]]) (normal in essential thrombocytosis)
**C-reactive protein ([[CRP]])
**C-reactive protein ([[CRP]]) (normal in essential thrombocytosis)
**[[Fibrinogen]]
**[[Fibrinogen]] (normal in essential thrombocytosis)
*To rule out iron deficiency and [[polycythemia vera]]
*To rule out iron deficiency and [[polycythemia vera]]
**Serum [[ferritin]]
**Serum [[ferritin]] (normal in essential thrombocytosis)
**[[Hematocrit]]
**[[Hematocrit]] (normal in essential thrombocytosis)
 
==Genetic Testing==
*To rule out other myeloproliferative neoplasms
*To rule out other myeloproliferative neoplasms
**''BCR-ABL'' or Philadelphia chromosome
**''BCR-ABL'' or [[Philadelphia chromosome]]
*Genetic studies
*To check for genetic mutations
**''JAK2'' mutation using [[PCR]]
**''JAK2'' mutation using [[PCR]]



Latest revision as of 19:50, 6 January 2016

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

Overview

Laboratory findings consistent with the diagnosis of essential thrombocytosis include abnormal complete blood count (elevated platelet count, leukocytosis, erythrocytosis), peripheral blood smear showing large platelets, megakaryocyte fragments and platelet aggregates, presence of JAK2 mutation, and absence of BCR-ABL or Philadelphia chromosome.[1][2]

Laboratory findings

Essential thrombocytosis remains a diagnosis of exclusion, after ruling out reactive or secondary causes of thrombocytosis. Laboratory tests for the diagnosis of essential thrombocytosis include the following:[1]

  • Complete blood count (CBC)
  • Peripheral blood smear shows large platelets, megakaryocyte fragments and platelet aggregates.[2]
  • To rule out inflammatory disorders
    • Erythrocyte sedimentation rate (ESR) (normal in essential thrombocytosis)
    • C-reactive protein (CRP) (normal in essential thrombocytosis)
    • Fibrinogen (normal in essential thrombocytosis)
  • To rule out iron deficiency and polycythemia vera
    • Serum ferritin (normal in essential thrombocytosis)
    • Hematocrit (normal in essential thrombocytosis)

Genetic Testing

  • To rule out other myeloproliferative neoplasms
  • To check for genetic mutations
    • JAK2 mutation using PCR

References

  1. 1.0 1.1 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.
  2. 2.0 2.1 Essential Thrombocythemia. Merck manual. http://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/essential-thrombocythemia. Accessed on November 11,2015.


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