DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Hematologic Disorder

Polycythemia Vera

MODERATE

A chronic myeloproliferative neoplasm characterized by overproduction of red blood cells due to JAK2 V617F mutation in most cases. Increases blood viscosity and risk of thrombosis, leading to strokes, heart attacks, and clots.

Global Affected

250.0K

Countries

16

Symptoms

Headache
Dizziness
Itching after hot shower
Flushing
Enlarged spleen
Fatigue
Blurred vision
High blood pressure
Blood clots

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 modern management. Risk of thrombosis is 2-4% per year; controlled with phlebotomy, aspirin, and cytoreduction. Risk of transformation to myelofibrosis is 10-15% over 10 years. Risk of transformation to acute leukemia is low (2-4%) without exposure to chemotherapy/radioactive phosphorus. JAK2 inhibitors (ruxolitinib) for resistant cases. Regular phlebotomy to maintain hematocrit <45% in men, <42% in women. Cardiovascular risk factor modification important.

Prevention

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

Research Status

Phlebotomy to maintain hematocrit <45%. Low-dose aspirin reduces thrombosis risk. Hydroxyurea or interferon for high-risk patients. Ruxolitinib for refractory cases. JAK inhibitors showing promise.

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.