The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Essential Thrombocythemia

A myeloproliferative neoplasm with clonal platelet elevation and thrombotic risk.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Essential Thrombocythemia?

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterized by sustained, autonomous overproduction of platelets by clonal megakaryocytes in the bone marrow. The annual incidence is approximately 1-2 per 100,000, with median age at diagnosis around 60 years and slight female predominance.

Driver mutations are identified in over 90% of patients: JAK2 V617F (50-60%), CALR (20-25%), and MPL (3-5%). About 10-15% are 'triple-negative' for these mutations. Diagnosis requires meeting WHO 2016 criteria including platelet count over 450,000/μL, characteristic bone marrow morphology, exclusion of other MPNs and reactive causes, and presence of clonal markers.

Despite being relatively indolent, ET carries significant risk of arterial thrombosis (stroke, MI), venous thrombosis, microvascular events, hemorrhagic complications (paradoxically with very high platelets due to acquired von Willebrand syndrome), and rare transformation to myelofibrosis (3-10% over 15 years) or acute leukemia (1-5%). Risk-stratified treatment based on the IPSET-thrombosis score guides management.

Symptoms

Often asymptomatic at diagnosis (incidental finding)
Vasomotor symptoms: headache, dizziness, syncope
Erythromelalgia: burning pain, redness, warmth in extremities
Visual disturbances and paresthesias
Thrombotic events: stroke, TIA, MI, DVT, pulmonary embolism
Bleeding (mucocutaneous) at very high platelet counts
Mild splenomegaly (about 25% of patients)
Constitutional symptoms (fatigue, night sweats, pruritus)

Risk Factors

Age over 60 years (high-risk category)
Prior thrombotic event (highest risk)
JAK2 V617F mutation (higher thrombotic risk than CALR)
Cardiovascular risk factors (hypertension, diabetes, smoking)
Leukocytosis at diagnosis
Female sex with thrombosis (paradoxically protective overall)
Pregnancy (increased thrombotic and hemorrhagic risk)
Triple-negative mutation status (often more indolent)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent platelet count above 450,000/μL on routine testing
  • Symptoms suggesting microvascular events (headache, vision changes)
  • Any thrombotic event (stroke, MI, DVT) requiring full evaluation
  • Bleeding symptoms with high platelet counts
  • Splenomegaly or constitutional symptoms
  • Pregnancy planning in known ET patients
  • Family history of myeloproliferative disorders
  • Conversion to myelofibrosis or acute leukemia symptoms

Treatment Methods

01
Risk stratification: IPSET-thrombosis score determines treatment intensity
02
Low-dose aspirin (81-100 mg): for all patients without bleeding contraindications
03
Cytoreductive therapy for high risk: hydroxyurea (first-line) targeting platelets under 400,000/μL
04
Anagrelide: alternative for hydroxyurea intolerance, monitor for cardiovascular effects
05
Pegylated interferon alpha: preferred in younger patients, pregnancy
06
Plateletpheresis: for life-threatening thrombotic emergencies (stroke, severe ischemia)
07
Pregnancy management: aspirin throughout, low molecular weight heparin postpartum, careful monitoring
08
JAK inhibitors (ruxolitinib): research role in select cases

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Hematoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Anaemia

Dahiliye (İç Hastalıkları)

Anaemia is a low haemoglobin level that reduces oxygen delivery, causing fatigue, pallor, and shortness of breath. It is not a disease itself but a sign of many underlying conditions. Most cases are correctable with appropriate diagnosis and treatment.

Iron Deficiency Anaemia

Dahiliye (İç Hastalıkları)

Iron deficiency anaemia develops when dietary intake, absorption, or losses create an iron shortfall, most often affecting women and children. Identifying the underlying cause is the core of management, alongside iron replacement.

Vitamin B12 Deficiency

Dahiliye (İç Hastalıkları)

Vitamin B12 deficiency can cause megaloblastic anaemia, neurological symptoms, and cognitive impairment. Early treatment with intramuscular or oral B12 largely prevents irreversible complications.

Hypertension (High Blood Pressure) Management

Dahiliye (İç Hastalıkları)

Hypertension is often called the silent killer because it progresses symptom-free for years and can damage the heart, brain, kidneys, and eyes. Regular monitoring, lifestyle change, and evidence-based drug therapy dramatically reduce cardiovascular risk.

Chronic Kidney Disease

Dahiliye (İç Hastalıkları)

Chronic kidney disease is one of the most common complications of chronic conditions such as diabetes and hypertension, and can be silent in its early stages.

Hepatitis B (HBV)

Dahiliye (İç Hastalıkları)

Hepatitis B is a DNA virus infection causing acute and chronic hepatitis with risk of cirrhosis and hepatocellular carcinoma; diagnosis integrates HBsAg, HBeAg, anti-HBc, and HBV DNA with management based on disease phase using nucleos(t)ide analogues (entecavir, tenofovir) and universal infant vaccination.

Hepatitis C (HCV)

Dahiliye (İç Hastalıkları)

Hepatitis C is an RNA virus causing chronic hepatitis that may progress to cirrhosis and hepatocellular carcinoma; modern direct-acting antiviral (DAA) pangenotypic regimens (sofosbuvir/velpatasvir, glecaprevir/pibrentasvir) achieve sustained virologic response over 95% in 8–12 weeks with universal adult screening and cure for nearly all patients.

Fatty Liver Disease

Dahiliye (İç Hastalıkları)

Non-alcoholic fatty liver disease (NAFLD) is closely related to obesity and metabolic syndrome and is largely reversible with early treatment.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.