Essential thrombocytosis - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm (MPN) associated with an increase in number and size of circulating platelets.
Clinical presentation includes vasomotor symptoms and complications from thrombosis and bleeding. Approximately 40% to 50% of patients are asymptomatic at diagnosis, and thrombocytosis is an incidental finding on routine blood testing.
There are no pathognomonic features and it is a diagnosis of exclusion.
Patients can be stratified into four risk groups to help guide treatment: very low-risk, low-risk, intermediate-risk, and high-risk.
Treatment approach should be individualized and may include lifestyle modification and observation, antiplatelet and anticoagulant therapy, and cytoreductive therapy.

Characteristic bone marrow features of essential thrombocythemia in trephine biopsies stained with hematoxylin and eosin. Increase in cellularity (thick arrow) and increase in number of enlarged, mature megakaryocytes with hyperlobulated nuclei (thin arrow)

Reproduced with permission from Michiels JJ, de Raeve H, Hebeda K, et al. Leuk Res. 2007 Aug;31(8):1031-8

Quick Reference

History & Exam
- Key Factors
- Other Factors
More information...
Diagnostics Tests
More information...
Treatment Options
More information...

Definition

Epidemiology

Etiology

Pathophysiology

Images

Characteristic bone marrow features of essential thrombocythemia in trephine biopsies stained with hematoxylin and eosin. Increase in cellularity (thick arrow) and increase in number of enlarged, mature megakaryocytes with hyperlobulated nuclei (thin arrow)

Citations

Key Articles

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms [internet publication].[Full Text]
Tefferi A, Vannucchi AM, Barbui T. Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management. Am J Hematol. 2024 Apr;99(4):697-718.[Abstract][Full Text]
Harrison CN, Butt N, Campbell P, et al. Modification of British Committee for Standards in Haematology diagnostic criteria for essential thrombocythaemia. Br J Haematol. 2014 Nov;167(3):421-3.[Abstract]
Vannucchi AM, Barbui T, Cervantes F, et al. Philadelphia chromosome-negative chronic myeloproliferative neoplasms: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2015 Sep;26(suppl 5):v85-99.[Abstract][Full Text]
Harrison CN, Bareford D, Butt N, et al; British Committee for Standards in Haematology. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br J Haematol. 2010 May;149(3):352-75.[Abstract][Full Text]

Other Online Resources

Warfarin dosing

Referenced Articles

1. Arber DA, Orazi A, Hasserjian RP, et al. International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022 Sep 15;140(11):1200-28.[Abstract][Full Text]
2. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022 Jul;36(7):1703-19.[Abstract][Full Text]
3. Fenaux P, Simon M, Caulier MT, et al. Clinical course of essential thrombocythemia in 147 cases. Cancer. 1990 Aug 1;66(3):549-56.[Abstract][Full Text]
4. Bentley MA, Taylor KM, Wright SJ. Essential thrombocythaemia. Med J Aust. 1999 Aug 16;171(4):210-3.[Abstract]
5. Michiels JJ, van Genderen PJ, Jansen PH, et al. Atypical transient ischemic attacks in thrombocythemia of various myeloproliferative disorders. Leuk Lymphoma. 1996 Sep;22(suppl 1):65-70.[Abstract]
6. Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol. 2005 Feb;128(3):275-90.[Abstract][Full Text]
7. Carobbio A, Ferrari A, Masciulli A, et al. Leukocytosis and thrombosis in essential thrombocythemia and polycythemia vera: a systematic review and meta-analysis. Blood Adv. 2019 Jun 11;3(11):1729-37.[Abstract][Full Text]
8. Andriani A, Latagliata R, Anaclerico B, et al. Spleen enlargement is a risk factor for thrombosis in essential thrombocythemia: evaluation on 1,297 patients. Am J Hematol. 2016 Mar;91(3):318-21.[Abstract]
9. Accurso V, Santoro M, Raso S, et al. Splenomegaly impacts prognosis in essential thrombocythemia and polycythemia vera: a single center study. Hematol Rep. 2019 Nov 29;11(4):8281.[Abstract][Full Text]
10. Gangat N, Tefferi A. Myeloproliferative neoplasms and pregnancy: overview and practice recommendations. Am J Hematol. 2021 Mar 1;96(3):354-66.[Abstract][Full Text]
11. Wright CA, Tefferi A. A single institutional experience with 43 pregnancies in essential thrombocythemia. Eur J Haematol. 2001 Mar;66(3):152-9.[Abstract]
12. Verstovsek S, Yu J, Scherber RM, et al. Changes in the incidence and overall survival of patients with myeloproliferative neoplasms between 2002 and 2016 in the United States. Leuk Lymphoma. 2022 Mar;63(3):694-702.[Abstract][Full Text]
13. The Haematological Malignancy Research Network. Factsheets: essential thrombocythaemia 2022. Apr 2024 [internet publication].[Full Text]
14. Johansson P. Epidemiology of the myeloproliferative disorders polycythemia vera and essential thrombocythemia. Semin Thromb Hemost. 2006 Apr;32(3):171-3.[Abstract]
15. Mehta J, Wang H, Iqbal SU, et al. Epidemiology of myeloproliferative neoplasms in the United States. Leuk Lymphoma. 2014 Mar;55(3):595-600.[Abstract]
16. Ma X, Vanasse G, Cartmel B, et al. Prevalence of polycythemia vera and essential thrombocythemia. Am J Hematol. 2008 May;83(5):359-62.[Abstract][Full Text]
17. Brière JB. Essential thrombocythemia. Orphanet J Rare Dis. 2007 Jan 8;2:3.[Abstract][Full Text]
18. Cross NCP, Godfrey AL, Cargo C, et al. The use of genetic tests to diagnose and manage patients with myeloproliferative and myeloproliferative/myelodysplastic neoplasms, and related disorders. Br J Haematol. 2021 Nov;195(3):338-51.[Abstract][Full Text]
19. Kang MG, Choi HW, Lee JH, et al. Coexistence of JAK2 and CALR mutations and their clinical implications in patients with essential thrombocythemia. Oncotarget. 2016 Aug 30;7(35):57036-49.[Abstract][Full Text]
20. Jang MA, Seo MY, Choi KJ, et al. A rare case of essential thrombocythemia with coexisting JAK2 and MPL driver mutations. J Korean Med Sci. 2020 Jun 15;35(23):e168.[Abstract][Full Text]
21. Kondo T, Okabe M, Sanada M, et al. Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene. Blood. 1998 Aug 15;92(4):1091-6.[Abstract]
22. Trifa AP, Cucuianu A, Popp RA. Familial essential thrombocythemia associated with MPL W515L mutation in father and JAK2 V617F mutation in daughter. Case Rep Hematol. 2014;2014:841787.[Abstract][Full Text]
23. Accurso V, Santoro M, Mancuso S, et al. Familial essential thrombocythemia: 6 cases from a mono-institutional series. Clin Case Rep. 2022 Mar;10(3):e05525.[Abstract][Full Text]
24. Allahverdi N, Yassin M, Ibrahim M. Environmental factors, lifestyle risk factors, and host characteristics associated with philadelphia negative myeloproliferative neoplasm: a systematic review. Cancer Control. 2021 Jan-Dec;28:10732748211046802.[Abstract][Full Text]
25. Wiestner A, Schlemper RJ, van der Maas AP, et al. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998 Jan;18(1):49-52.[Abstract]
26. Lussana F, Caberlon S, Pagani C, et al. Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review. Thromb Res. 2009 Sep;124(4):409-17.[Abstract]
27. Finazzi G, Rambaldi A, Guerini V, et al. Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. Haematologica. 2007 Jan;92(1):135-6.[Abstract]
28. De Stefano V, Za T, Rossi E, et al. Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. Haematologica. 2009 May;94(5):733-7.[Abstract]
29. Arellano-Rodrigo E, Alvarez-Larrán A, Reverter JC, et al. Increased platelet and leukocyte activation as contributing mechanisms for thrombosis in essential thrombocythemia and correlation with the JAK2 mutational status. Haematologica. 2006 Feb;91(2):169-75.[Abstract]
30. Marchetti M, Castoldi E, Spronk HM, et al. Thrombin generation and activated protein C resistance in patients with essential thrombocythemia and polycythemia vera. Blood. 2008 Nov 15;112(10):4061-8.[Abstract][Full Text]
31. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005 Dec 3;366(9501):1945-53.[Abstract]
32. van Genderen PJ, Budde U, Michiels JJ, et al. The reduction of large von Willebrand factor multimers in plasma in essential thrombocythaemia is related to the platelet count. Br J Haematol. 1996 Jun;93(4):962-5.[Abstract]
33. Bucalossi A, Marotta G, Bigazzi C, et al. Reduction of antithrombin III, protein C, and protein S levels and activated protein C resistance in polycythemia vera and essential thrombocythemia patients with thrombosis. Am J Hematol. 1996 May;52(1):14-20.[Abstract][Full Text]
34. Accurso V, Santoro M, Mancuso S, et al. The essential thrombocythemia in 2020: what we know and where we still have to dig deep. Clin Med Insights Blood Disord. 2020 Dec 28;13:2634853520978210.[Abstract][Full Text]
35. Tefferi A, Ho TC, Ahmann GJ, et al. Plasma interleukin-6 and C-reactive protein levels in reactive versus clonal thrombocytosis. Am J Med. 1994 Oct;97(4):374-8.[Abstract]
36. Wilkins BS, Erber WN, Bareford D, et al. Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood. 2008 Jan 1;111(1):60-70.[Abstract][Full Text]
37. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms [internet publication].[Full Text]
38. Tefferi A, Vannucchi AM, Barbui T. Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management. Am J Hematol. 2024 Apr;99(4):697-718.[Abstract][Full Text]
39. Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014 Mar 6;123(10):1544-51.[Abstract][Full Text]
40. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006 Dec 7;355(23):2452-66.[Abstract]
41. Harrison CN, Butt N, Campbell P, et al. Modification of British Committee for Standards in Haematology diagnostic criteria for essential thrombocythaemia. Br J Haematol. 2014 Nov;167(3):421-3.[Abstract]
42. Haider M, Gangat N, Lasho T, et al. Validation of the revised International Prognostic Score of Thrombosis for Essential Thrombocythemia (IPSET-thrombosis) in 585 Mayo Clinic patients. Am J Hematol. 2016 Jun;91(4):390-4.[Abstract][Full Text]
43. Barbui T, Vannucchi AM, Buxhofer-Ausch V, et al. Practice-relevant revision of IPSET-thrombosis based on 1019 patients with WHO-defined essential thrombocythemia. Blood Cancer J. 2015 Nov 27;5(11):e369.[Abstract][Full Text]
44. Vannucchi AM, Barbui T, Cervantes F, et al. Philadelphia chromosome-negative chronic myeloproliferative neoplasms: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2015 Sep;26(suppl 5):v85-99.[Abstract][Full Text]
45. Harrison CN, Bareford D, Butt N, et al; British Committee for Standards in Haematology. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br J Haematol. 2010 May;149(3):352-75.[Abstract][Full Text]
46. Rocca B, Tosetto A, Betti S, et al. A randomized double-blind trial of 3 aspirin regimens to optimize antiplatelet therapy in essential thrombocythemia. Blood. 2020 Jul 9;136(2):171-82.[Abstract][Full Text]
47. Barbui T, Tefferi A, Vannucchi AM, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet. Leukemia. 2018 May;32(5):1057-69.[Abstract][Full Text]
48. Harrison CN, Campbell PJ, Buck G, et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med. 2005 Jul 7;353(1):33-45.[Abstract][Full Text]
49. Björkholm M, Derolf AR, Hultcrantz M, et al. Treatment-related risk factors for transformation to acute myeloid leukemia and myelodysplastic syndromes in myeloproliferative neoplasms. J Clin Oncol. 2011 Jun 10;29(17):2410-5.[Abstract][Full Text]
50. Quintás-Cardama A, Abdel-Wahab O, Manshouri T, et al. Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon alpha-2a. Blood. 2013 Aug 8;122(6):893-901.[Abstract][Full Text]
51. Verger E, Cassinat B, Chauveau A, et al. Clinical and molecular response to interferon-alpha therapy in essential thrombocythemia patients with CALR mutations. Blood. 2015 Dec 10;126(24):2585-91.[Abstract][Full Text]
52. Rumi E, Cazzola M. How I treat essential thrombocythemia. Blood. 2016 Nov 17;128(20):2403-14.[Abstract][Full Text]
53. Shvidel L, Sigler E, Haran M, et al. Busulphan is safe and efficient treatment in elderly patients with essential thrombocythemia. Leukemia. 2007 Sep;21(9):2071-2.[Abstract]
54. Finazzi G, Ruggeri M, Rodeghiero F, et al. Second malignancies in patients with essential thrombocythaemia treated with busulphan and hydroxyurea: long-term follow-up of a randomized clinical trial. Br J Haematol. 2000 Sep;110(3):577-83.[Abstract][Full Text]
55. Tefferi A, Szuber N, Vallapureddy RR, et al. Decreased survival and increased rate of fibrotic progression in essential thrombocythemia chronicled after the FDA approval date of anagrelide. Am J Hematol. 2019 Jan;94(1):5-9.[Abstract][Full Text]
56. Bieniaszewska M, Sobieralski P, Leszczyńska A, et al. Anagrelide in essential thrombocythemia: efficacy and long-term consequences in young patient population. Leuk Res. 2022 Dec;123:106962.[Abstract][Full Text]
57. Barosi G, Birgegard G, Finazzi G, et al. Response criteria for essential thrombocythemia and polycythemia vera: result of a European LeukemiaNet consensus conference. Blood. 2009 May 14;113(20):4829-33.[Abstract][Full Text]
58. Padmanabhan A, Connelly-Smith L, Aqui N, et al. Guidelines on the use of therapeutic apheresis in clinical practice - evidence-based approach from the Writing Committee of the American Society for Apheresis: the eighth special Issue. J Clin Apher. 2019 Jun;34(3):171-354.[Abstract]
59. Barbui T, Barosi G, Grossi A, et al. Practice guidelines for the therapy of essential thrombocythemia. Haematologica. 2004 Feb;89(2):215-32.[Abstract]
60. Passamonti F, Rumi E, Randi ML, et al. Aspirin in pregnant patients with essential thrombocythemia: a retrospective analysis of 129 pregnancies. J Thromb Haemost. 2010 Feb;8(2):411-3.[Abstract][Full Text]
61. Maze D, Kazi S, Gupta V, et al. Association of treatments for myeloproliferative neoplasms during pregnancy with birth rates and maternal outcomes: a systematic review and meta-analysis. JAMA Netw Open. 2019 Oct 2;2(10):e1912666.[Abstract][Full Text]
62. Bates SM, Middeldorp S, Rodger M, et al. Guidance for the treatment and prevention of obstetric-associated venous thromboembolism. J Thromb Thrombolysis. 2016 Jan;41(1):92-128.[Abstract][Full Text]
63. Ruggeri M, Rodeghiero F, Tosetto A, et al. Postsurgery outcomes in patients with polycythemia vera and essential thrombocythemia: a retrospective survey. Blood. 2008 Jan 15;111(2):666-71.[Abstract][Full Text]
64. Beer PA, Erber WN, Campbell PJ, et al. How I treat essential thrombocythemia. Blood. 2011 Feb 3;117(5):1472-82.[Abstract][Full Text]
65. Gunawan A, Harrington P, Garcia-Curto N, et al. Ruxolitinib for the treatment of essential thrombocythemia. Hemasphere. 2018 Aug;2(4):e56.[Abstract][Full Text]
66. Harrison CN, Mead AJ, Panchal A, et al. Ruxolitinib vs best available therapy for ET intolerant or resistant to hydroxycarbamide. Blood. 2017 Oct 26;130(17):1889-97.[Abstract][Full Text]
67. Alvarez-Larrán A, Sant'Antonio E, Harrison C, et al. Unmet clinical needs in the management of CALR-mutated essential thrombocythaemia: a consensus-based proposal from the European LeukemiaNet. Lancet Haematol. 2021 Sep;8(9):e658-e665.[Abstract]
68. Szuber N, Vallapureddy RR, Penna D, et al. Myeloproliferative neoplasms in the young: Mayo Clinic experience with 361 patients age 40 years or younger. Am J Hematol. 2018 Dec;93(12):1474-84.[Abstract][Full Text]
69. Smith CJ, Thomas JW, Ruan G, et al. A population-based study of outcomes in polycythemia vera, essential thrombocythemia, and primary myelofibrosis in the United States from 2001 to 2015: comparison with data from a Mayo Clinic single institutional series. Am J Hematol. 2021 Dec 1;96(12):E464-8.[Full Text]
70. Barbui T, Thiele J, Passamonti F, et al. Survival and disease progression in essential thrombocythemia are significantly influenced by accurate morphologic diagnosis: an international study. J Clin Oncol. 2011 Aug 10;29(23):3179-84.[Abstract]
71. Cerquozzi S, Tefferi A. Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors. Blood Cancer J. 2015 Nov 13;5:e366.[Abstract][Full Text]
72. Passamonti F, Rumi E, Pungolino E, et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med. 2004 Nov 15;117(10):755-61.[Abstract]
73. Griesshammer M, Heimpel H, Pearson TC. Essential thrombocythemia and pregnancy. Leuk Lymphoma. 1996 Sep;22(suppl 1):57-63.[Abstract]