Essential thrombocytosis laboratory findings: Difference between revisions

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==Overview==
==Overview==
Lab tests for the diagnosis of Essential thrombocytosis include tests to rule out reactive or secondary causes of thrombocytosis and ET remains a diagnosis of exclusion. The tests include abnormal complete blood count ([[CBC]]), peripheral blood smear, cytogenetic studies including [[Philadelphia chromosome]] or ''BCR-ABL'' assay, and the presence of JAK2 V617F mutations. Bone marrow biopsy is an important test and needed to make a diagnosis of ET<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>as per WHO definition.
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==
Lab 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]]
*Bone marrow biopsy
**Increased cellularity
**Hyperplasia and clustering of megakaryocytes
**Bone marrow stains positive for iron
**Bone marrow [[reticulin]] may be increased with no [[collagen]] fibrosis


==References==
==References==

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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