Signs and symptoms of ET are often related to the development of thrombi (blood clots) due to high platelet counts. These include:
- Chest pain with shortness of breath and nausea (due to heart attack)
- Chest pain with shortness of breath and cough (due to a pulmonary embolism)
- Pain, swelling, and redness in the arms and legs (due to deep vein thrombosis, a blood clot that forms in the deep veins of the body)
- Headache, dizziness, blurred vision, and other neurological symptoms (due to decreased blood flow to the brain, which could lead to a heart attack or transient ischemic attack)
Patients with extremely high platelet counts may have abnormal bleeding, including:
- Nosebleeds
- GI bleeding (bloody stools)
- Easy bruising
Other signs and symptoms of ET include:
- Fatigue
- Pain, redness, and swelling in the hands and feet due to diminished blood flow (called erythromelalgia)
- Weight loss
- Night sweats
- Low-grade fevers
- Splenomegaly (enlarged spleen)
ET is a relatively benign MPN, and life expectancy for patients with ET is near a normal life span. Only a very small percentage of patients progress to other MPNs or acute leukemia. Some ET patients, especially those with the JAK2 V617F mutation, can proceed to secondary myelofibrosis. The goal of treatment is to prevent vascular occlusions and prevent bleeding. Thus, treatment options include aspirin and platelet-lowering drugs such as hydroxyurea and anagrelide. Rarely prescribed are plateletpheresis, stem cell transplantation, interferon, and cytotoxic agents.
