Summary about Disease
Essential thrombocythemia (ET) is a rare chronic blood disorder characterized by an overproduction of platelets by the bone marrow. Platelets are blood cells that help form clots to stop bleeding. In ET, the increased number of platelets can lead to either excessive blood clotting (thrombosis) or, paradoxically, bleeding complications. While ET can occur at any age, it's most commonly diagnosed in adults between the ages of 50 and 70. It is classified as a myeloproliferative neoplasm (MPN), meaning it is a blood cancer caused by genetic mutations in bone marrow cells that lead to the overproduction of one or more types of blood cells. Many people with ET experience few or no symptoms for years.
Symptoms
Many individuals with essential thrombocythemia have no noticeable symptoms, especially in the early stages. When symptoms do occur, they can vary widely and may include:
Blood clots (thrombosis): These can occur in arteries or veins, leading to stroke, heart attack, deep vein thrombosis (DVT), or pulmonary embolism.
Bleeding: Paradoxically, high platelet counts can sometimes impair platelet function, leading to bleeding, such as nosebleeds, easy bruising, bleeding gums, or heavy menstrual periods.
Headaches: Frequent or severe headaches, dizziness, or lightheadedness.
Visual disturbances: Temporary changes in vision, such as blurred vision, flashing lights, or visual aura.
Burning, redness, and tingling in the hands and feet (erythromelalgia): This is a painful condition caused by blood clots in small blood vessels.
Fatigue: Unexplained and persistent tiredness.
Enlarged spleen (splenomegaly): Which can cause abdominal discomfort or fullness.
Chest pain: Can be present
Causes
Essential thrombocythemia is caused by genetic mutations in bone marrow stem cells. These mutations lead to the overproduction of platelets. The most common mutations found in ET include:
JAK2: Janus kinase 2
CALR: Calreticulin
MPL: Myeloproliferative leukemia virus oncogene These mutations result in abnormal signaling pathways within the bone marrow cells, causing them to produce excessive numbers of platelets. ET is not considered hereditary.
Medicine Used
The treatment for essential thrombocythemia is individualized based on a person's risk of blood clots and bleeding. Medications used to manage ET may include:
Low-dose aspirin: To reduce the risk of blood clots.
Hydroxyurea: A chemotherapy drug that slows down platelet production in the bone marrow.
Anagrelide: Another medication that reduces platelet production.
Interferon alfa: A medication that can also lower platelet counts and may be used in younger patients or during pregnancy.
Ruxolitinib: a JAK inhibitor that can be used in some patients who have a JAK2 mutation and who have not responded to other treatments.
Is Communicable
No, essential thrombocythemia is not a communicable disease. It is not caused by an infection and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent essential thrombocythemia, as it is caused by genetic mutations that occur spontaneously. However, people with ET can take precautions to manage their condition and reduce the risk of complications:
Adhere to prescribed medications: Take medications as prescribed by your doctor to control platelet counts and reduce the risk of blood clots or bleeding.
Regular medical follow-up: Attend regular appointments with your hematologist to monitor your condition and adjust treatment as needed.
Manage risk factors for cardiovascular disease: Control blood pressure, cholesterol, and blood sugar levels to reduce the risk of blood clots.
Avoid smoking: Smoking increases the risk of blood clots and other complications.
Stay active: Regular exercise can improve circulation and reduce the risk of blood clots.
Inform healthcare providers: Let all healthcare providers know that you have ET before any medical procedures or surgeries.
Be aware of symptoms: Watch for signs of blood clots or bleeding and seek medical attention promptly if they occur.
Avoid dehydration: Drink plenty of fluids to maintain adequate hydration.
How long does an outbreak last?
Essential thrombocythemia is not an "outbreak" situation, as it is a chronic condition that persists over a person's lifetime. Symptoms may fluctuate in severity over time, but the underlying disorder remains present. Symptom flares can vary in duration depending on individual factors and treatment effectiveness. Some individuals can experience a thrombosis (blood clot) that can take weeks or months to resolve. Erythromelalgia symptoms can last from minutes to hours.
How is it diagnosed?
Essential thrombocythemia is typically diagnosed through a combination of:
Complete blood count (CBC): Shows an elevated platelet count (thrombocytosis). Typically, a platelet count consistently above 450,000/microliter is required to consider ET.
Peripheral blood smear: Examination of blood cells under a microscope to assess their appearance.
Bone marrow aspiration and biopsy: A sample of bone marrow is taken and examined to rule out other causes of thrombocytosis and to assess the bone marrow cells.
Genetic testing: To identify mutations in genes such as JAK2, *CALR*, or *MPL*.
Ruling out other causes of thrombocytosis: Reactive thrombocytosis (elevated platelets due to another underlying condition, such as infection, inflammation, or iron deficiency) must be excluded.
Timeline of Symptoms
The timeline of symptoms in essential thrombocythemia can vary greatly from person to person. Some individuals may remain asymptomatic for many years, while others may experience symptoms early in the course of the disease.
Early Stages: Many people have no symptoms. The condition is often discovered incidentally during routine blood tests.
Progression: Symptoms may gradually develop over time, such as headaches, visual disturbances, fatigue, or erythromelalgia.
Complications: Blood clots or bleeding events can occur at any time, but they are more likely to happen as the disease progresses.
Long-Term: ET is a chronic condition that requires ongoing monitoring and management. The prognosis for people with ET is generally good, with most individuals having a normal life expectancy with appropriate treatment.
Important Considerations
Pregnancy: Women with ET require special monitoring during pregnancy due to the increased risk of complications, such as miscarriage, preeclampsia, and blood clots.
Risk Stratification: Risk stratification is important in determining the appropriate treatment for ET.
Personalized Treatment: Treatment should be individualized based on a person's risk of blood clots and bleeding, as well as their overall health.
Clinical trials: Consider participating in clinical trials to evaluate new treatments for ET.
Psychological support: Living with a chronic condition like ET can be challenging. Seek psychological support or counseling if needed.
Rare disease: Due to its rarity, finding a hematologist experienced in treating MPNs is essential for proper care.