Table of ContentsView AllTable of ContentsSymptomsComplicationsCausesDiagnosisTreatment
Table of ContentsView All
View All
Table of Contents
Symptoms
Complications
Causes
Diagnosis
Treatment
Essential thrombocythemia(ET) is a rare form of blood cancer that causes thebone marrowto produce too manyplatelets(the blood cells responsible for clotting). This excessive production can cause the inappropriate formation of blood clots that can block blood vessels, referred to asthrombosis.
ET belongs to a larger group of blood cancers calledmyeloproliferative neoplasmsthat cause the excessive production of blood cells.The diagnosis is largely based on the exclusion of all other possible causes. Not all cases of ET require treatment, but those that may benefit fromanticoagulants(“blood thinners”) and other drugs that counter the effects of ET.
This article looks at the symptoms and causes of essential thrombocythemia, including how this rare condition is diagnosed and treated. It also describes possible complications of ET and the current survival rates for those diagnosed with the disease.
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Essential Thrombocythemia Symptoms
Abnormal bleeding is a common feature of ET. This is because the protein responsible for sticking blood cells together and forming clots, called theVon Willebrand factor, gets spread too thin even as platelets are overproduced. When this happens, bleeding can spontaneously occur in the gut, under the skin, or in the nose, mouth, and gums.
Symptoms of essential thrombocythemia may include:
Complications of Essential Thrombocythemia
The formation of blood clots can sometimes be serious and potentially lead to heart attack, stroke,transient ischemic attack(a “mini-stroke”), ordigital ischemia(loss of blood flow to a finger or toe).
An enlarged spleen (splenomegaly) is also seen in up to 20% of cases due to the obstruction of blood circulation, leading to a swollen abdomen, bloating, and a loss of appetite.
Additional complications include an increased risk of pregnancy loss and other complications of pregnancy in people with ET.
In rare cases, ET can cause a stroke, heart attack,deep vein thrombosis (DVT), or apulmonary embolism, usually in people with underlying risk factors for these diseases.
People with ET also have an increased risk of developing other blood cancer likemyelodysplasticsyndromes (MDS)oracute myeloid leukemia (AML).
What Causes Essential Thrombocythemia?
The prefix “myelo” refers to the bone marrow, while “neoplasm” describes growth that is abnormal and out of control.
It is unclear what causes MPNs like essential thrombocythemia, although genetics is thought to play a central role.
What is known is that MPNs occur when immature blood cells (called blast cells) develop sudden genetic changes (called somatic mutations) that cause them to grow abnormally. Around 55% of cases involve a genetic mutation known asJanus kinase 2 (JAK2). Other gene mutations, called MPL and CALR, have also been implicated.
ET is exceptionally rare, affecting fewer than three out of 100,000 people each year. Males and females of all racial or ethnic backgrounds are equally affected, although ET tends to be seen more in adults over 60.
How Is Essential Thrombocythemia Diagnosed?
Essential thrombocythemia is often spotted during a routine blood exam in persons who either have no symptoms or vague, nonspecific symptoms (such as fatigue or a headache). Any bloodplatelet countof over 450,000 platelets per microliter is considered a red flag. Those over a million per microliter are associated with a higher risk of abnormal bruising or bleeding.
The diagnosis of ET is largely exclusionary, meaning that any other cause for the high platelet count must be first excluded to make a definitive diagnosis.
Other conditions associated with a high platelet count include:
How Is Essential Thrombocythemia Treated?
Thetreatment of essential thrombocythemiadepends largely on how elevated the platelet count is as well as the likelihood of complications. Not all people with ET require treatment.Some simply need to be monitored to ensure the condition doesn’t worsen.
If needed, treatment may involve a dailylow-dose aspirinfor those at high risk of bleeding or vasomotor symptoms (like flushing or hot flashes).
If aspirin fails to provide relief, other drugs may be considered, including:
What is the life expectancy of a person with essential thrombocythemia?Because of the effectiveness of current treatments, the life expectancy of someone with essential thrombocythemia is more or less equal to that of the general population. The median survival from the time of diagnosis (typically around age 60) is 20 years.
What is the life expectancy of a person with essential thrombocythemia?
Because of the effectiveness of current treatments, the life expectancy of someone with essential thrombocythemia is more or less equal to that of the general population. The median survival from the time of diagnosis (typically around age 60) is 20 years.
Summary
Essential thrombocythemia is a rare blood cancer that causes the excessive production of platelets. Symptoms range from nosebleeds and abnormal vaginal bleeding to rare but potentially life-threatening complications like heart attack or stroke.
The diagnosis is largely based on the exclusion of all other causes, although genetic testing can help support the diagnosis. ET doesn’t always need to be treated, but drugs are available that help reduce platelet counts and clotting should symptoms develop.
11 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Leukemia and Lymphoma Society.Essential thrombocythemia.Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk‐stratification and management.Am J Hematol. 2020;95(12):1599-1613. doi:10.1002/ajh.26008National Organization for Rare Disorders.Essential thrombocythemia.National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Essential thrombocythemia.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;91(3):318-321. doi:10.1002/ajh.24269Joan How, Orly Leiva, Thomas Bogue, Geoffrey G. Fell, Mark W. Bustoros, Nathan T. Connell, Jean M. Connors, Irene M. Ghobrial, David J. Kuter, Ann Mullally, Donna Neuberg, Jeffrey I. Zwicker, Annemarie E. Fogerty, Gabriela S. Hobbs,Pregnancy outcomes, risk factors, and cell count trends in pregnant women with essential thrombocythemia.Leukemia Research, Volume 98, 2020, 106459. doi:10.1016/j.leukres.2020.106459.National Cancer Institute.Chronic myeloproliferative neoplasms treatment (PDQ®).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;13:263485352097821. doi:10.1177/2634853520978210MPN Research Foundation.What is essential thrombocythemia (ET)?Jiang H, Jin Y, Shang Y, et al.Therapeutic plateletpheresis in patients with thrombocytosis: gender, hemoglobin before apheresis significantly affect collection efficiency.Front Med. 2021;8:762419. doi:10.3389/fmed.2021.762419Gangat N, Karrar O, Al-Kali A, et al.One thousand patients with essential thrombocythemia: the Mayo Clinic experience.Blood Cancer J. 2024;14(1):1-11.
11 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Leukemia and Lymphoma Society.Essential thrombocythemia.Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk‐stratification and management.Am J Hematol. 2020;95(12):1599-1613. doi:10.1002/ajh.26008National Organization for Rare Disorders.Essential thrombocythemia.National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Essential thrombocythemia.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;91(3):318-321. doi:10.1002/ajh.24269Joan How, Orly Leiva, Thomas Bogue, Geoffrey G. Fell, Mark W. Bustoros, Nathan T. Connell, Jean M. Connors, Irene M. Ghobrial, David J. Kuter, Ann Mullally, Donna Neuberg, Jeffrey I. Zwicker, Annemarie E. Fogerty, Gabriela S. Hobbs,Pregnancy outcomes, risk factors, and cell count trends in pregnant women with essential thrombocythemia.Leukemia Research, Volume 98, 2020, 106459. doi:10.1016/j.leukres.2020.106459.National Cancer Institute.Chronic myeloproliferative neoplasms treatment (PDQ®).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;13:263485352097821. doi:10.1177/2634853520978210MPN Research Foundation.What is essential thrombocythemia (ET)?Jiang H, Jin Y, Shang Y, et al.Therapeutic plateletpheresis in patients with thrombocytosis: gender, hemoglobin before apheresis significantly affect collection efficiency.Front Med. 2021;8:762419. doi:10.3389/fmed.2021.762419Gangat N, Karrar O, Al-Kali A, et al.One thousand patients with essential thrombocythemia: the Mayo Clinic experience.Blood Cancer J. 2024;14(1):1-11.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Leukemia and Lymphoma Society.Essential thrombocythemia.Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk‐stratification and management.Am J Hematol. 2020;95(12):1599-1613. doi:10.1002/ajh.26008National Organization for Rare Disorders.Essential thrombocythemia.National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Essential thrombocythemia.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;91(3):318-321. doi:10.1002/ajh.24269Joan How, Orly Leiva, Thomas Bogue, Geoffrey G. Fell, Mark W. Bustoros, Nathan T. Connell, Jean M. Connors, Irene M. Ghobrial, David J. Kuter, Ann Mullally, Donna Neuberg, Jeffrey I. Zwicker, Annemarie E. Fogerty, Gabriela S. Hobbs,Pregnancy outcomes, risk factors, and cell count trends in pregnant women with essential thrombocythemia.Leukemia Research, Volume 98, 2020, 106459. doi:10.1016/j.leukres.2020.106459.National Cancer Institute.Chronic myeloproliferative neoplasms treatment (PDQ®).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;13:263485352097821. doi:10.1177/2634853520978210MPN Research Foundation.What is essential thrombocythemia (ET)?Jiang H, Jin Y, Shang Y, et al.Therapeutic plateletpheresis in patients with thrombocytosis: gender, hemoglobin before apheresis significantly affect collection efficiency.Front Med. 2021;8:762419. doi:10.3389/fmed.2021.762419Gangat N, Karrar O, Al-Kali A, et al.One thousand patients with essential thrombocythemia: the Mayo Clinic experience.Blood Cancer J. 2024;14(1):1-11.
Leukemia and Lymphoma Society.Essential thrombocythemia.
Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk‐stratification and management.Am J Hematol. 2020;95(12):1599-1613. doi:10.1002/ajh.26008
National Organization for Rare Disorders.Essential thrombocythemia.
National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Essential thrombocythemia.
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;91(3):318-321. doi:10.1002/ajh.24269
Joan How, Orly Leiva, Thomas Bogue, Geoffrey G. Fell, Mark W. Bustoros, Nathan T. Connell, Jean M. Connors, Irene M. Ghobrial, David J. Kuter, Ann Mullally, Donna Neuberg, Jeffrey I. Zwicker, Annemarie E. Fogerty, Gabriela S. Hobbs,Pregnancy outcomes, risk factors, and cell count trends in pregnant women with essential thrombocythemia.Leukemia Research, Volume 98, 2020, 106459. doi:10.1016/j.leukres.2020.106459.
National Cancer Institute.Chronic myeloproliferative neoplasms treatment (PDQ®).
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;13:263485352097821. doi:10.1177/2634853520978210
MPN Research Foundation.What is essential thrombocythemia (ET)?
Jiang H, Jin Y, Shang Y, et al.Therapeutic plateletpheresis in patients with thrombocytosis: gender, hemoglobin before apheresis significantly affect collection efficiency.Front Med. 2021;8:762419. doi:10.3389/fmed.2021.762419
Gangat N, Karrar O, Al-Kali A, et al.One thousand patients with essential thrombocythemia: the Mayo Clinic experience.Blood Cancer J. 2024;14(1):1-11.
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