Essential Thrombocythemia (ET)

Table of Contents

What is Essential Thrombocythemia (ET)?

Essential thrombocythemia (ET) is a chronic blood cancer characterized by an abnormal increase in the production of platelets by the bone marrow. These platelets are involved in blood clotting, and their excessive number can lead to increased risk of blood clots and bleeding complications.

Essential thrombocythemia (ET) belongs to a group of blood disorders known as myeloproliferative neoplasms (MPNs). These disorders are characterized by the clonal (abnormal) growth and proliferation of blood cell precursors in the bone marrow. In ET, the specific cell line affected is megakaryocytes, which are responsible for producing platelets.

While classified as a cancer, essential thrombocythemia (ET) typically has a slow progression and good prognosis with proper management.

Pathogenesis and pathophysiology

Myeloproliferation and the JAK-STAT pathway

Essential thrombocythemia (ET) is driven by abnormal cell signaling within the bone marrow, leading to uncontrolled proliferation of megakaryocytes and excessive platelet production. This malfunction primarily involves the JAK-STAT pathway:

  • JAK (Janus Kinase): An enzyme that initiates signaling within the cell after receiving signals from outside.
  • STAT (Signal Transducer and Activator of Transcription): A protein that, once activated by JAK, travels to the nucleus and influences gene expression.

Role of JAK2, CALR and MPL mutations in abnormal cell signaling

Pie chart illustrating the distribution of JAK-STAT mutations in essential thrombocythemia (ET). JAK2 mutations are the most common at 50%, followed by CALR (20-40%) and MPL (5-10%).
This pie chart depicts the distribution of JAK-STAT mutations found in essential thrombocythemia (ET). JAK2 mutations are the most prevalent, accounting for roughly half (50%) of all cases. CALR mutations follow in frequency, ranging from 20 to 40% of patients. MPL mutations are the least common, affecting approximately 5 to 10% of individuals with ET. These mutations play a crucial role in the abnormal growth and development of megakaryocytes, the cells responsible for platelet production, ultimately leading to the characteristic features of ET.

Mutations in JAK2, CALR, MPL, and JAK2 exon 12: These mutations are the hallmark of essential thrombocythemia (ET) and are found in around 90% of patients. They affect different parts of the JAK-STAT pathway, leading to abnormal cell signaling:

  • JAK2 V617F mutation: This is the most common mutation, affecting a specific amino acid in the JAK2 protein. It leads to constitutive (always-on) activation of the JAK-STAT pathway, promoting uncontrolled cell growth and differentiation.
  • CALR and MPL mutations: These mutations occur in around 25% and 10% of ET patients, respectively. They can also lead to dysregulation of the JAK-STAT pathway, although through different mechanisms than JAK2 V617F.

Disruption of normal hematopoiesis leading to increased platelet production

These mutations in JAK2, CALR, or MPL lead to dysregulation of the JAK-STAT pathway, which normally controls cell growth, differentiation, and survival. This dysregulation disrupts the delicate balance of blood cell production in the bone marrow, favoring uncontrolled megakaryocyte proliferation and increased platelet release.

Epidemiology and risk factors

Incidence and Prevalence

  • Incidence: Estimated to be 0.2 to 2.5 cases per 100,000 people annually, meaning it is a relatively rare disease.
  • Prevalence: Estimated to be 38 to 57 cases per 100,000 people, suggesting more individuals are diagnosed with the condition than are newly diagnosed each year. However, due to the often mild symptoms, some cases may remain undiagnosed, potentially impacting the actual prevalence.

Age, Gender, and Ethnicity

  • Age: Essential thrombocythemia (ET) typically occurs in adults aged 50-60 years, but it can affect any age group, including children.
  • Gender: Women are slightly more likely to be diagnosed with essential thrombocythemia (ET) than men, with a female-to-male ratio of approximately 2:1.
  • Ethnicity: While essential thrombocythemia (ET) can occur in any ethnic group, certain populations, such as East Asians, may have a lower prevalence compared to others.

Familial Predisposition

  • Family history of essential thrombocythemia (ET) is a minor risk factor, suggesting a potential genetic component to the disease in some cases. However, most cases occur sporadically without a clear family link.

Signs and symptoms of Essential Thrombocythemia (ET)

Many individuals with essential thrombocythemia (ET) experience no noticeable symptoms at all, and the condition is often discovered during routine blood tests for other reasons. However, when symptoms do occur, they can be categorized into several groups.

Thrombotic Events

These are the most concerning and potentially life-threatening symptoms of essential thrombocythemia (ET), arising from the increased risk of blood clots due to the high platelet count. Common examples include:

  • Deep vein thrombosis (DVT): Blood clot formation in a deep vein, usually in the legs, causing pain, swelling, redness, and warmth in the affected area.
  • Pulmonary embolism (PE): A blood clot that travels from a vein, usually in the legs, to the lungs, causing shortness of breath, chest pain, and coughing.
  • Stroke: A blood clot blocking blood flow to the brain, leading to sudden weakness, numbness, difficulty speaking, and vision problems.

Hemorrhagic Events

While less frequent than thrombotic events, bleeding can also occur in some individuals with ET, especially if the platelets are abnormally shaped or functionally impaired. Examples include:

  • Easy bruising
  • Nosebleeds
  • Bleeding gums
  • Heavy menstrual bleeding

Constitutional Symptoms

These symptoms are non-specific and can occur in various conditions, making diagnosis based solely on them challenging. However, they can be present in some essential thrombocythemia (ET) patients and include:

  • Fatigue: A persistent feeling of tiredness and lack of energy, often not relieved by rest.
  • Headaches: Can vary in type and severity.
  • Dizziness or lightheadedness
  • Night sweats
  • Weight loss

Splenomegaly (enlarged spleen)

The spleen plays a role in filtering blood cells. In some, but not all, cases, essential thrombocythemia (ET) can cause the spleen to enlarge, which may be felt as a mass in the left upper abdomen and can sometimes cause discomfort.

Other Related Symptoms

  • Burning pain, redness, and swelling in the hands and feet (Erythromelalgia): This is a less common symptom but can be very uncomfortable and is caused by abnormal blood flow.
  • Visual disturbances like blurred vision or seeing flashing lights

Complications of Essential Thrombocythemia (ET)

While essential thrombocythemia itself is usually a chronic condition with a good prognosis with proper management, it can lead to several potential complications.

Myelofibrosis transformation

  • This is the most concerning complication, occurring in approximately 1% of essential thrombocythemia (ET) patients per year.
  • It involves scarring of the bone marrow, leading to anemia (low red blood cell count), fatigue, and abnormal blood cell production.

Acute myeloid leukemia (AML)

  • This is a rare but severe complication, affecting less than 1% of essential thrombocythemia (ET) patients per year.
  • It involves the transformation of abnormal blood stem cells into acute leukemia, a rapidly progressing cancer.

Venous thromboembolism (VTE)

  • This refers to blood clot formation in the veins, including deep vein thrombosis (DVT) and pulmonary embolism (PE).
  • These events are more likely in individuals with essential thrombocythemia (ET) due to the increased number of platelets.
  • Symptoms can include pain, swelling, redness, shortness of breath, and chest pain.

Arterial thrombosis

  • This refers to blood clot formation in the arteries, which can lead to heart attack, stroke, or peripheral arterial disease (PAD).
  • The risk is lower than VTE but still needs to be monitored and managed.

Bleeding risks

  • While less common than thrombotic events, bleeding complications can occur in some individuals with essential thrombocythemia (ET).
  • This is more likely if the platelets are abnormally shaped or functionally impaired.
  • Symptoms can include easy bruising, nosebleeds, and bleeding gums.

Laboratory Investigations and Diagnosis of Essential Thrombocythemia (ET)

Elevated platelet count with presence of giant platelets in essential thrombocythemia
This represents a platelet count between 1.5 and 2 million per microliter (normal range is between 0.150 and 0.450 million). The patient had had an elevated count for at least 15 years but is asymptomatic. “Essential Thrombocythemia, Peripheral Blood (10189570483)” by Ed Uthman from Houston, TX, USA is licensed under CC BY 2.0.

Laboratory investigations play a crucial role in diagnosing and monitoring essential thrombocythemia (ET). While no single test is definitive for essential thrombocythemia (ET), a combination of findings helps build a strong case for diagnosis. 

Laboratory Investigations

  • Complete blood count (CBC)
  • Peripheral blood smear
    • Examination of blood under a microscope can reveal platelet abnormalities, such as increased size or variation in size and shape.
  • Bone marrow examination
    • While not always necessary, a bone marrow biopsy and aspiration can be helpful in some cases to rule out other conditions and assess for abnormalities like increased megakaryocytes (platelet precursors).
  • JAK2, CALR, and MPL mutation analysis
    • These tests detect the presence of specific mutations in the genes involved in the JAK-STAT pathway, which are associated with essential thrombocythemia (ET).
    • Finding a positive mutation can be a strong indicator of essential thrombocythemia (ET), but not having a mutation doesn’t necessarily rule out the diagnosis.

Criteria for Diagnosis

The International Working Group for Myeloproliferative Neoplasms (IWG-MPN) established diagnostic criteria for essential thrombocythemia (ET), requiring all three major criteria and at least one minor criterion to be met.

Major criteria

  • Platelet count ≥ 450 x 109/L
  • Proliferation of the megakaryocytic lineage in the BM, with increased numbers of enlarged, mature megakaryocytes with hyperlobulated staghorn-like nuclei, infrequently dense clusters; no significant increase or left shift in neutrophil granulopoiesis or erythropoiesis; no relevant BM fibrosis
  • Diagnostic criteria for BCR-ABL1-positive CML, PV, PMF or other myeloid neoplasms are not met
  • JAK2, CALR, or MPL mutation

Minor criterion

  • Clonal marker or absence of evidence of reactive thrombocytosis

Diagnosis of essential thrombocythemia (ET) requires

All major criteria or the first 3 major criteria plus the minor criterion

Microscopic image of bone marrow showing abnormal large megakaryocytes with multi-lobed nuclei.
Bone marrow examination showing presence of atypical megakaryocytes. These megakaryocytes were enlarged, mature, and displayed hyperlobated nuclei. No significant increase in erythropoiesis or granulopoiesis was observed.Essential thrombocythemia (2)” by No machine-readable author provided. KGH assumed (based on copyright claims). is licensed under CC BY-SA 3.0.

Treatment and management

Treatment for essential thrombocythemia (ET) aims to

  • Reduce the risk of blood clots (thromboprophylaxis)
  • Control the platelet count
  • Manage symptoms
  • Minimize the risk of complications

The specific approach depends on various factors, including

  • Age and overall health
  • Presence of symptoms
  • Risk factors for thrombosis (e.g., previous history of blood clots, cardiovascular disease)
  • Type of mutation (JAK2, CALR, MPL)

Low-risk vs. High-risk Stratification

Patients are categorized into low-risk and high-risk groups based on factors like age, presence of symptoms, and cardiovascular risk factors. This helps guide treatment decisions.

Cytoreductive Therapy

  • These medications, primarily hydroxyurea, aim to reduce the overall production of blood cells in the bone marrow, including platelets.
  • They are typically used in high-risk patients who haven’t responded adequately to other treatments or have significant symptoms.
  • Side effects can include fatigue, nausea, and suppression of other blood cell counts, requiring careful monitoring.

Antiplatelet Therapy

  • Low-dose aspirin is the mainstay of treatment for low-risk patients and those with a history of thrombosis.
  • It helps prevent platelet aggregation and reduce the risk of blood clots.
  • While generally well-tolerated, it can cause stomach upset and increase bleeding risk in some individuals.

Other Treatment Modalities

  • α-Interferon: This medication can be used in specific cases, especially in younger patients, but its use has declined due to side effects like fatigue and flu-like symptoms.
  • JAK inhibitors: These newer targeted therapies are showing promising results in clinical trials and are being increasingly used, particularly for patients with specific mutations or those who haven’t responded well to other treatments.
  • Splenectomy: In rare cases, removal of the spleen, which helps filter blood cells and sometimes stores platelets in essential thrombocythemia (ET), may be considered, but it carries surgical risks and doesn’t address the underlying cause.
  • Anagrelide: This medication works by inhibiting the growth and maturation of megakaryocytes, ultimately leading to reduced platelet production. It is typically used in high-risk patients who haven’t responded well to other treatments or have significant symptoms. Compared to other options, anagrelide can have more side effects such as headache, nausea, diarrhea, and heartburn.Careful monitoring by a healthcare professional is essential to manage side effects and ensure its safe and effective use.


Life expectancy with proper management

The good news is that with proper management and regular follow-up, individuals with essential thrombocythemia (ET) can have a near-normal lifespan.

  • Median survival for essential thrombocythemia (ET) patients is estimated to be around 18 years, which is similar to the general population of the same age and sex.
  • Low-risk patients, defined by specific criteria like younger age and absence of symptoms, can have an even better prognosis with a median survival exceeding 26 years.

Importance of regular monitoring and follow-up

However, it is essential to understand that essential thrombocythemia (ET) is a chronic condition, and regular monitoring and follow-up are crucial for several reasons:

  • Early detection and management: Allows for timely intervention to reduce the risk of complications like blood clots and potential progression to other conditions.
  • Monitoring treatment response: Ensures the chosen treatment is effective in controlling the platelet count and managing symptoms.
  • Assessing for complications: Enables healthcare professionals to identify potential complications like myelofibrosis or leukemia early, allowing for prompt initiation of appropriate treatment.

Differential diagnosis of thrombocytosis

Thrombocytosis, defined as an elevated platelet count, can occur due to various underlying conditions. Differentiating between primary (clonal) causes like essential thrombocythemia (ET) and secondary (reactive) causes is crucial for determining the most appropriate management approach and prognosis. 

Reactive Thrombocytosis

Most common cause of thrombocytosis (80-90% of cases). Characterized by an elevated platelet count as a response to another underlying condition. Causes include:

  • Inflammatory conditions: Infections, autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus)
  • Tissue injury and surgery: Trauma, major burns, post-operative states
  • Blood loss: Iron deficiency anemia, chronic blood loss (e.g., from peptic ulcers)
  • Certain medications: Erythropoietin (EPO) therapy, corticosteroids, diuretics
  • Splenomegaly (enlarged spleen) from various causes (e.g., liver cirrhosis, portal hypertension)

Primary Thrombocytosis (Clonal Myeloproliferative Neoplasms)

Less common than reactive thrombocytosis, accounting for 10-20% of cases. Characterized by clonal (abnormal) growth of blood cell precursors in the bone marrow, leading to increased platelet production. Examples include:

  • Essential Thrombocythemia (ET): Discussed in detail above.
  • Chronic Myelogenous Leukemia (CML): Characterized by the presence of the Philadelphia chromosome and involves other blood cell lineages besides platelets.
  • Polycythemia Vera (PV): Primarily affects red blood cell production but can also present with thrombocytosis.
  • Primary Myelofibrosis (PMF): Causes bone marrow scarring, often accompanied by thrombocytosis.

Spurious Thrombocytosis

This is a rare occurrence where laboratory errors can lead to an artificially high platelet count due to issues with blood collection or processing.

Additional Considerations

  • Myelodysplastic Syndromes (MDS): Can sometimes present with thrombocytosis, but usually also involve other blood cell abnormalities.
  • Paraneoplastic syndromes: Certain cancers can trigger secondary thrombocytosis.
  • Splenomegaly (enlarged spleen): Can trap platelets, leading to a falsely elevated peripheral blood count.
  • Thrombocytosis essentialia: A rare, non-malignant condition with persistent thrombocytosis without other identifiable causes.

Distinguishing between these entities requires a comprehensive evaluation including

  • Detailed medical history and physical examination to identify potential underlying conditions.
  • Complete blood count (CBC) to assess platelet count and other blood cell parameters.
  • Bone marrow examination: May be necessary to evaluate for specific features suggestive of ET or other MPNs.
  • Mutation analysis: Testing for JAK2, CALR, and MPL mutations can be helpful in differentiating ET from reactive thrombocytosis.

Key Points of Essential Thrombocythemia


A chronic blood cancer characterized by an abnormal increase in platelet production by the bone marrow, leading to an increased risk of blood clots and bleeding complications.


Primarily driven by mutations in JAK2, CALR, or MPL genes, disrupting the JAK-STAT pathway and promoting uncontrolled megakaryocyte (platelet precursor) growth.


Often asymptomatic, detected incidentally during routine blood tests. Potential symptoms include:

  • Thrombotic events (e.g., deep vein thrombosis, stroke)
  • Hemorrhagic events (less common)
  • Constitutional symptoms (e.g., fatigue, headache)
  • Splenomegaly (enlarged spleen)


  • Myelofibrosis transformation
  • Acute myeloid leukemia (AML) (rare)
  • Venous thromboembolism (VTE)
  • Arterial thrombosis
  • Bleeding risks


Based on:

  • Elevated platelet count (> 450,000/µL)
  • Bone marrow examination (no myelofibrosis)
  • Absence of other clonal myeloid disease
  • Presence of JAK2, CALR, or MPL mutation (at least one)


Low-risk vs. high-risk stratification guides treatment decisions. Options include:

  • Cytoreductive therapy (e.g., hydroxyurea) – high-risk patients
  • Antiplatelet therapy (e.g., aspirin) – low-risk patients and those with thrombosis history
  • Other modalities: interferon alfa, JAK inhibitors, splenectomy (rarely)


  • With proper management, individuals with ET can have a near-normal lifespan.
  • Regular follow-up is essential for monitoring treatment response, detecting complications early, and optimizing long-term health.

Differential diagnosis

  • Reactive thrombocytosis is the most common cause, often due to underlying conditions like infections or inflammation.
  • Other possibilities include other myeloproliferative neoplasms (MPNs) like CML and PMF.

Frequently Asked Questions (FAQs)

Is essential thrombocythemia serious?

While essential thrombocythemia (ET) itself is a chronic condition and technically classified as a cancer, it is generally not considered a serious illness in the same way as other cancers, provided it is properly managed. Here’s why:

1. Good Prognosis with Management: With proper diagnosis, treatment, and regular follow-up, individuals with essential thrombocythemia (ET) can have a near-normal lifespan. The median survival for essential thrombocythemia (ET) patients is estimated to be around 18 years, similar to the general population of the same age and sex.

2. Manageable Symptoms: Many individuals with essential thrombocythemia (ET) experience no noticeable symptoms at all. Even when symptoms do occur, they can often be managed effectively with medication and lifestyle modifications.

3. Treatment Options Available: Various treatment options exist to control the platelet count and reduce the risk of complications, including antiplatelet medications, cytoreductive therapy, and newer targeted therapies like JAK inhibitors.

**However, it is crucial to understand that essential thrombocythemia (ET) is still a chronic condition and requires careful monitoring and management to minimize the risk of complications, such as:

  • Myelofibrosis transformation: Scarring of the bone marrow, affecting blood cell production.
  • Acute myeloid leukemia (AML): A rare but severe complication, where abnormal blood stem cells turn into leukemia.
  • Blood clots (thrombosis): Increased platelet count raises the risk of blood clots in veins (venous thromboembolism) and arteries (arterial thrombosis), which can be life-threatening.
  • Bleeding risks: While less common than blood clots, abnormal platelet function in some individuals with ET can increase the risk of bleeding.

Can essential thrombocytosis be cured?

Unfortunately, essential thrombocythemia (ET) cannot be cured. It is a chronic condition caused by genetic mutations that lead to abnormal blood cell production. While treatments can effectively manage the symptoms and significantly reduce the risk of complications, they cannot permanently eliminate the underlying cause.

Is essential thrombocythemia a form of leukemia?

No, essential thrombocythemia (ET) is not considered a true form of leukemia. While it is classified as a myeloproliferative neoplasm (MPN), similar to some leukemias, there are key distinctions:

1. Cell Type Affected

  • Leukemia: Involves cancer of the white blood cells. Different types of leukemia affect specific types of white blood cells.
  • ET: Primarily affects megakaryocytes, which are precursors to platelets, not directly affecting white blood cells.

2. Disease Progression

  • Leukemia: Characterized by uncontrolled growth and rapid proliferation of abnormal white blood cells. These cells crowd out healthy cells in the bone marrow and can spread to other organs, leading to serious illness and potentially death if left untreated.
  • ET: While the underlying cause involves abnormal growth, the proliferation of megakaryocytes in ET is generally slower than in leukemia. Additionally, ET cells typically do not spread to other organs.

3. Treatment Approach

  • Leukemia: Treatments often involve aggressive measures like chemotherapy and potentially stem cell transplantation, aiming to eliminate the abnormal white blood cells.
  • ET: Treatments primarily focus on controlling the platelet count and preventing complications like blood clots. Medications like antiplatelet agents or cytoreductive therapies are often used, with newer targeted therapies like JAK inhibitors showing promise.

4. Prognosis

  • Leukemia: Prognosis varies depending on the specific type and stage of leukemia. However, some forms can be highly aggressive and life-threatening, requiring intensive treatment.
  • ET: With proper management, individuals with ET can have a near-normal lifespan and good quality of life. The risk of complications can be significantly reduced with appropriate treatment and monitoring.

It is important to note that ET can, in rare cases, transform into acute myeloid leukemia (AML), a true form of leukemia. This highlights the importance of regular monitoring and early intervention if necessary.

Why does essential thrombocythemia cause bleeding?

While essential thrombocythemia (ET) is primarily associated with an increased risk of blood clots due to the high number of platelets, it can also lead to bleeding complications in some cases. This may seem counterintuitive, but here’s why:

1. Abnormal Platelet Function

  • In some individuals with essential thrombocythemia (ET), the platelets themselves may be abnormal, affecting their ability to function properly in forming blood clots. This can occur due to:
    • Mutations: Gene mutations affecting platelet production can lead to immature or poorly formed platelets with impaired functionality.
    • Large platelet size: In some cases, the increased platelet production in essential thrombocythemia (ET) can lead to the formation of giant platelets, which are less effective in forming clots.

2. Reduced Platelet Availability

  • While the overall platelet count is high in essential thrombocythemia (ET), a paradoxical phenomenon known as “platelet sequestration” can occur.
    • The enlarged spleen, a potential complication in essential thrombocythemia (ET), can trap and store a large number of platelets, reducing their availability in the bloodstream for forming clots at sites of injury.

3. Medications

  • Some antiplatelet medications used to manage essential thrombocythemia (ET) and reduce the risk of blood clots by interfering with platelet function. While this is beneficial in preventing thrombosis, it can also increase the risk of bleeding, especially if the individual already has abnormal platelet function.

Why does essential thrombocythemia cause fatigue?

While the exact cause of fatigue in essential thrombocythemia (ET) is not fully understood, several factors are likely to contribute:

1. Increased metabolic activity

The abnormal growth and proliferation of megakaryocytes in essential thrombocythemia (ET) require increased energy expenditure. This can lead to fatigue as the body struggles to meet its energy demands.

2. Inflammatory processes

There is growing evidence suggesting low-grade inflammation might be present in individuals with essential thrombocythemia (ET). This inflammation can contribute to fatigue through various mechanisms, including:

  • Increased production of pro-inflammatory cytokines: These chemicals can affect energy metabolism and contribute to feelings of tiredness.
  • Disruption of sleep architecture: Inflammation can disrupt normal sleep patterns, leading to poor sleep quality and daytime fatigue.

3. Anemia

In some cases, essential thrombocythemia (ET) can be associated with mild anemia, a deficiency in red blood cells. This can contribute to fatigue due to reduced oxygen delivery to tissues.

4. Spleen enlargement (Splenomegaly)

An enlarged spleen, a potential complication in essential thrombocythemia (ET), can lead to sequestration (trapping) of red blood cells, further contributing to anemia and fatigue.

5. Psychological factors

Living with a chronic condition like essential thrombocythemia (ET) can cause stress and anxiety, which can further worsen fatigue.

6. Medication side effects

Some medications used to treat essential thrombocythemia (ET), such as hydroxyurea and interferon-alpha, can have fatigue as a side effect.

It’s important to remember that fatigue can also be caused by various other factors unrelated to ET. 

Here are some potential management options for fatigue in essential thrombocythemia (ET):

  • Treating the underlying ET: Effective control of the platelet count and prevention of complications can help improve fatigue in some individuals.
  • Addressing specific contributing factors: If factors like inflammation or anemia are identified, addressing those can help alleviate fatigue.
  • Lifestyle modifications: Ensuring adequate sleep, maintaining a healthy diet, and engaging in regular physical activity (as tolerated) can improve energy levels and overall well-being.
  • Medications: In some cases, medications specifically aimed at managing fatigue, like erythropoietin-stimulating agents for anemia or psychostimulants for managing depression and anxiety, may be considered.

Is essential thrombocythemia hereditary?

In most cases, essential thrombocythemia (ET) is not considered hereditary. It arises from acquired genetic mutations that occur after conception in the early blood-forming cells. These mutations are not inherited from parents and are not passed onto offspring.

However, there are rare cases where essential thrombocythemia (ET) can have a familial component, meaning it can occur in multiple family members. This is known as familial essential thrombocythemia and is estimated to account for approximately 10% of all essential thrombocythemia (ET) cases.

1. Non-hereditary (Sporadic) essential thrombocythemia (ET)

  • This is the most common form, accounting for 90% of cases.
  • Mutations occur in the bone marrow after conception, not inherited from parents.
  • No increased risk of passing the condition to offspring.

2. Familial Essential Thrombocythemia

  • Occurs in less than 10% of cases.
  • Caused by germline mutations (mutations present in the egg or sperm) that are inherited from a parent.
  • Increases the risk of developing essential thrombocythemia (ET) for offspring of the affected individual.
  • However, having a family history of essential thrombocythemia (ET) does not guarantee that offspring will develop it, and the risk is still relatively low.

It is important to note that genetic testing can help identify individuals with a familial predisposition to essential thrombocythemia (ET). However, this test is not routinely performed for everyone with essential thrombocythemia (ET).

Does essential thrombocythemia get worse over time?

While not guaranteed, some factors can increase the risk of complications and potentially lead to a more progressive course:

  • Advanced age: The risk of complications generally increases with age.
  • High platelet count: A very high platelet count (above 1 million per microliter) is associated with a higher risk of complications.
  • Specific mutations: The presence of certain gene mutations, such as TP53 mutation, can be associated with a higher risk of transformation to AML.

Can you donate blood if you have essential thrombocythemia?

Individuals with essential thrombocythemia (ET) are generally not eligible to donate blood due to safety concerns. While the high platelet count may seem like a benefit for donation, it can pose potential risks. Firstly, the increased platelet count in essential thrombocythemia (ET) often involves abnormal platelet function, reducing their effectiveness in clotting. Secondly, removing a significant amount of platelets during donation could further decrease the individual’s platelet count, potentially increasing their own risk of bleeding complications. Therefore, to ensure both donor and recipient safety, individuals with essential thrombocythemia (ET) are advised not to donate blood.

Disclaimer: This article is intended for informational purposes only and is specifically targeted towards medical students. It is not intended to be a substitute for informed professional medical advice, diagnosis, or treatment. While the information presented here is derived from credible medical sources and is believed to be accurate and up-to-date, it is not guaranteed to be complete or error-free. See additional information.


  2. Gianelli U, Thiele J, Orazi A, Gangat N, Vannucchi AM, Tefferi A, Kvasnicka HM. International Consensus Classification of myeloid and lymphoid neoplasms: myeloproliferative neoplasms. Virchows Arch. 2023 Jan;482(1):53-68. doi: 10.1007/s00428-022-03480-8. Epub 2022 Dec 29. PMID: 36580136; PMCID: PMC9852206.
  3. Goldberg S, Hoffman J. Clinical Hematology Made Ridiculously Simple, 1st Edition: An Incredibly Easy Way to Learn for Medical, Nursing, PA Students, and General Practitioners (MedMaster Medical Books). 2021.
  4. Keohane EM, Otto CN, Walenga JM. Rodak’s Hematology 6th Edition (Saunders). 2019.

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