Essential Thrombocythemia

It is also known as essential thrombocytosis (ET). Undoubtedly one of the myeloproliferative neoplasms is essential thrombocytosis. The myeloproliferative neoplasm was the classification given to it. Polycythemia vera, primary myelofibrosis, and essential polycythemia are examples of myeloproliferative neoplasm. Due to shared mutations, the three kinds of myeloproliferative neoplasm are similar.

The JAK2 mutation is present in around 55% of individuals with essential thrombocytosis. Megakaryocytic hyperplasia in the bone marrow occurs together with thrombocytosis to identify essential thrombocytosis. Risks of vascular events including thrombosis and hemorrhage as well as the conversion to a blast phase of myelofibrosis are associated with thrombocytosis.

In the absence of clonal or reactive causes, essential thrombocytosis is defined by the World Health Organization as having a platelet count of more than 450000 and the presence of mutations in the Janus kinase 2 (JAK2), Calreticulin (CALR), or myeloproliferative leukemia virus oncogene (MPL) genes.

Essential Thrombocythemia: Causes

Uncertainty surrounds the disorder's origin. It frequently seems to be related to alterations in particular genes. Too many platelet-forming cells are produced by the bone marrow, and these platelets frequently perform poorly. Compared to reactive thrombocytosis, this has a substantially higher risk of consequences including bleeding or clotting.

Essential Thrombocythemia: Symptoms

Patients with essential thrombocytosis may exhibit a range of symptoms. Thrombocytosis is typically discovered incidentally on a full blood count in asymptomatic individuals. Migraine, headache, and vertigo are the most typical symptoms for symptomatic people. They may also exhibit different degrees of thrombosis, such as the disease's signature hepatic vein thrombosis, or they may exhibit symptoms including transient ischemic attack, erythromelalgia, and easy bruising.

Splenomegaly, the most frequent physical symptom of essential thrombocytosis, is modest in comparison to other myeloproliferative neoplasms.

Many potentially fatal consequences, including the following, can result from essential thrombocythemia −

  • Strokes. A stroke might be brought on by a blood clot in the arteries that supply the brain. A transient ischemic attack, also known as a small stroke, is a short blockage of blood supply to a portion of the brain.

  • Chest pains. Essential thrombocythemia, which occurs less frequently, can result in clots in the arteries that carry blood to your heart.

  • Cancer. Occasionally, essential thrombocythemia can cause a quick-progressing kind of leukemia.

Obstetrical Complications

The majority of pregnant women with essential thrombocythemia have typical, healthy births. Nevertheless, untreated thrombocythemia might cause consequences including miscarriage. Regular checkups and medication management may lower your chance of pregnancy issues, so make sure your doctor keeps a close eye on your health.

Essential Thrombocythemia: Risk Factors

Several factors play an important role in the development of essential thrombocythemia which includes −

  • Gender. Essential thrombocythemia is 1.5 times more likely to affect women than males.

  • Age. Whereas 20% of ET patients are under the age of 40, those over the age of 60 have the highest risk of developing the ailment.

  • Mutation in JAK2

  • CALR

Essential Thrombocythemia: Diagnosis

The diagnosis of essential thrombocythemia is mainly done based on history and some of the tests may be required for confirmation and to rule out the underlying causes.

To properly assess individuals with essential thrombocytosis, a full blood count, a bone marrow biopsy, and genetic testing to check for gene abnormalities are all necessary. There should be more than 450000 platelets. The bone marrow biopsy should reveal indications of enhanced megakaryocytic cell line proliferation together with a rise in the number of enlarging, mature megakaryocytes.

Before making a conclusive diagnosis of essential thrombocytosis, it is crucial to rule out alternative causes of thrombocytosis, including clonal and reactive causes, because the symptoms of myeloproliferative neoplasms overlap. Acute phase reactants and an iron panel are advised to rule out reactive thrombocytosis. It has been established that the abnormality in these two results in thrombocytosis.

Acute phase reactants, such as CRP, which is increased in a patient with reactive thrombocytosis, will be raised during the inflammatory process. The predicted outcome of thrombocytosis is the remission of inflammation. Thrombocytosis is also anticipated to improve with iron replenishment in iron deficit.

Knowing whether a patient has a JAK2, CALR, or MPL mutation is important since each of these mutations affects the clinical characteristics, side effects, and prognosis of myeloproliferative neoplasm. A genetic test can assist establish the phenotype and prognosis of essential thrombocytosis, according to research. For instance, a patient with essential thrombocytosis and CALR mutations has a better prognosis. The existence of a mutation enhances the diagnosis of all myeloproliferative neoplasms as 97% of patients have some sort of mutation, whether JAK2, CALR, or MPL.

Essential Thrombocythemia: Treatment

The treatment is based on the severity of the symptoms. Your doctor may advise conservative or surgical treatment.

As thrombosis and hemorrhage are the main causes of morbidity and death, treatment for essential thrombocytosis aims to avoid vascular consequences such as thrombotic and hemorrhagic events. To decide whether a patient needs therapy or not, risk stratification is utilized.

Often, those who have this illness yet show no symptoms or indicators don't require therapy. If you are susceptible to blood clots, you may need to take a low-dose aspirin every day to help thin your blood. Never use aspirin without first consulting your medical staff.

To reduce your platelet counts, you might need to take prescription medication or undergo certain treatments if you −

  • Have a history of bleeding and blood clots.

  • Have heart disease risk factors.

  • Are over 60 years old.

  • Possess a high platelet count.

  • Platelet-lowering medications like hydroxyurea, anagrelide, or interferon alfa may be prescribed by your doctor

A machine may remove platelets from your blood in an emergency. Plateletpheresis is the name of this process. The effects last just briefly.

Essential Thrombocythemia: Prevention

Individuals who have essential thrombocythemia are more likely to bleed excessively or form blood clots. This risk might be diminished by: avoiding cigarette use: Blood clots are more likely to form in smokers than in non-smokers.


The majority of the time, essential thrombocytosis is discovered incidentally. The most crucial step after a diagnosis is to risk-score patients. Patients may fall into the low, moderate, or high-risk categories. The categorization helps medical experts choose the best treatment plan. It is crucial to inform patients about their risk of thrombosis and bleeding since doing so may increase patient compliance. Some people with modest risks are only required to take aspirin once every day.

Younger age suggests minimal risk, thus instead of administering aspirin to these individuals, they can be properly watched. The negative effects of certain cytoreductive drugs should also be known to patients. The potential adverse effects of hydroxyurea include interstitial pneumonitis, fever, and vaginal, oral, and skin ulcers.

Skin malignancies other than melanomas might occur in older persons using hydroxyurea. Due to these adverse effects, the medicine must be stopped and replaced with a different cytoreductive drug.

Dr. Durgesh Kumar Sinha
Dr. Durgesh Kumar Sinha


Updated on: 18-Apr-2023


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