DISEASE SCANNER

Global Incurable Diseases Tracker

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Hematologic Disorder

Essential Thrombocythemia

MODERATE

A chronic myeloproliferative neoplasm characterized by overproduction of platelets (thrombocytosis), increasing risk of blood clots and bleeding. Usually driven by JAK2, CALR, or MPL mutations. Can progress to myelofibrosis or acute leukemia.

Global Affected

150.0K

Countries

15

Symptoms

Headache
Dizziness
Visual disturbances
Burning pain in hands/feet
Easy bruising
Nosebleeds
Blood clots
Enlarged spleen

Treatment Options

Transfusions
Iron supplementation
Vitamin supplementation
Erythropoietin
Immunosuppressants
Chemotherapy
Stem cell transplant
Gene therapy

Risk Factors

1Genetic mutations
2Family history
3Autoimmune disease
4Nutritional deficiencies
5Chronic disease
6Medications
7Environmental exposures

Diagnostic Methods

  • 1Complete blood count
  • 2Peripheral smear
  • 3Bone marrow biopsy
  • 4Coagulation studies
  • 5Hemoglobin electrophoresis
  • 6Flow cytometry
  • 7Genetic testing

Prognosis

Near-normal life expectancy with proper management. Risk of thrombosis is 2-3% per year for low-risk patients, 5-8% for high-risk. Risk of bleeding with extreme thrombocytosis (>1.5M). Transformation to myelofibrosis occurs in 5-10% over 10 years. Transformation to acute leukemia is rare (1-2%). Low-dose aspirin reduces thrombosis risk in high-risk patients. Cytoreductive therapy (hydroxyurea) for high-risk features. Regular monitoring every 3-6 months.

Prevention

  • Genetic counseling
  • Nutritional adequacy
  • Avoidance of triggers
  • Vaccinations
  • Regular monitoring
  • Family screening

Research Status

Low-dose aspirin for most patients. Hydroxyurea or interferon for high-risk cases. Anagrelide alternative. Monitoring for transformation to myelofibrosis. JAK inhibitors in trials for symptomatic patients.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilIndiaMexicoRussiaSwedenNorway

Sources

  • https://www.hematology.org
  • https://medlineplus.gov/blooddiseases.html
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.