Essential Thrombocythemia
Table of Contents
Essential thrombocythemia (ET) is a rare type of blood cancer. It occurs when the body makes too many platelets, the part of the blood needed for clotting. Too many can lead to blood clots or increased bleeding in some cases. Researchers are still trying to understand the causes of ET.There is no cure for ET but people with the disease often live normal lives.
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Risk Factors
The causes of essential thrombocythemia are largely unknown. It occurs more often in people over 50, and slightly more often in women. It is usually not passed down through families. Approximately half of people with this disease have an abnormal change in the janus kinase 2 (JAK2) gene. This is the gene that tells our cells to make the JAK2 protein. This protein promotes cell growth and controls blood-forming (hematopoietic) stem cells. Other genes such as CALR or MPL may be involved as well. The CALR gene gives instructions for making a protein called “calreticulin” which is thought to play a role in cell growth. The MPL gene gives instructions for making a protein called “thrombopoietin receptor protein.” This receptor is important for cell growth.
Signs & Symptoms
Many people with essential thrombocythemia show minimal signs or symptoms. If signs and symptoms occur, they may include:
- Headache
- Difficulty concentrating
- Throbbing or burning pain in feet or hands
- Numbness/tingling
- Lightheadedness or dizziness
- Enlarged spleen
- Thrombosis (abnormal clotting)
- Bleeding (less common)
- Fatigue or inactivity
- Weakness
- Sweating
Diagnosis
Diagnosis of essential thrombocythemia requires blood testing. A complete blood count measures blood cells and platelets. Consistently elevated platelet levels may be a sign of essential thrombocythemia. Your doctor may order the following tests to gather more information or rule out other causes:
- Testing for the presence of JAK2 mutation or other genetic mutations (e.g. CALR, MPL)
- Bone marrow biopsy and aspirate, helps to rule out other causes and confirm an ET diagnosis
Treatment
Different healthcare providers involved in your care may include a hematologist/oncologist, a nurse, a nurse navigator, an oncology social worker, or a pharmacist. These people can help you find information and resources that may be useful before, during, and after treatment. Ask your doctor about the other members of your healthcare team, their names, and how you can arrange to meet them. You also may want to ask your insurance company to assign you a case manager to help you understand which treatments and services your health insurance will cover.
Treatment choices depend on your diagnosis, the extent of the disease, and any other conditions you may have. The various drugs used to treat essential thrombocythemia work in different ways and may have different side effects. Ask for more information before starting treatment. Your options may include:
Aspirin, taken orally, in low doses, can help reduce the risk of clotting and is recommended for most ET patients.
Cytoreductive therapies (e.g. hydroxyurea, anagrelide), which may reduce the blood counts, are usually given by mouth (orally), and are recommended for patients considered high risk for blood counts (i.e. age > 60 or history of a prior blood clot).
Interferon alfa, which can lower blood counts, is given through a small needle just under the skin (subcutaneously). Some medications (like peginterferon alfa-2a) are known as “sustained release.” This allows for medication to be given only once per day because the drug releases slowly over time. This can make the medication more tolerable.
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