Essential thrombocytosis laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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[1]as per WHO definition.

Laboratory findings

Lab tests for the diagnosis of Essential thrombocytosis include the following[2]:

  • Complete blood count (CBC)
    • Elevated platelet count
    • Leukocytosis, erythrocytosis, and mild anemia may be present
  • Peripheral blood smear shows large platelets, megakaryocyte fragments and platelet aggregates[3]
  • To rule out inflammatory disorders
    • Erythrocyte sedimentation rate (ESR)
    • C-reactive protein (CRP)
    • Fibrinogen
  • To rule out Iron deficiency and polycythemia vera
    • Serum ferritin
    • Hematocrit
  • To rule out other myeloproliferative neoplasms
    • BCR-ABL or Philadelphia chromosome
  • Genetic studies
    • 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

  1. Schmoldt A, Benthe HF, Haberland G (1975). "Digitoxin metabolism by rat liver microsomes". Biochem Pharmacol. 24 (17): 1639–41. PMID http://dx.doi.org/10.1182/blood-2007-04-083501 Check |pmid= value (help).
  2. Essential Thrombocytosis Workup. Medscape. http://emedicine.medscape.com/article/206697-workup#c8. Accessed on November 10th, 2015
  3. 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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