Introduction:
Thrombocythemia is a condition in which the blood contains an abnormally high number of platelets or thrombocytes. The blood is formed in the bone marrow, which produces hematopoietic cells. It is a kind of myeloproliferative disorder. It is also known as essential thrombocythemia or primary thrombocythemia. Essential thrombocythemia is a chronic condition with no known treatment. This condition can cause tiredness and dizziness, headaches, and vision changes. It also raises the potential for blood clots. Treatment may not be needed in the case of a mild illness. If the symptoms are severe, an antiplatelet drug, blood thinners, or both may be needed. In any given year, less than one in 100,000 people is diagnosed with ET, with women being the most affected.
What Gives Rise to Thrombocythemia?
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The main cause of thrombocythemia is the excessive production of platelets by the bone marrow. Inside the bone is a spongy tissue called bone marrow. This tissue consists of hematopoietic cells, early progenitor cells that can differentiate into other pathways.
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In the case of platelets, progenitor cells differentiate into megakaryocytes responsible for producing platelets. Essential thrombocythemia is a genetic mutation along the JANUS KINASE 2 gene, also known as JAK2 or cell signaling pathways.
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Normally, the kidneys and liver produce a small hormone called thrombopoietin that binds to receptors on hematopoietic cells. When it binds to these cells to activate the JAK2 gene to make, divide, and mature into megakaryocytes and platelets. In addition, cells can develop mutations in the thrombopoietin receptor, MPL, or protein chaperone, calreticulin, or CALR.
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Now, when there is a gene mutation in CALR, the signaling pathway remains active at all times, meaning that platelets continue to be produced even without thrombopoietin. However, lots of platelets are produced. Many of them end up deformed; they are large and irregularly shaped.
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Due to excessive proteins, increased platelet counts increase the chance of creating blood clots in the deep veins of the legs, lungs, and even areas where clots do not form, such as the abdomen.
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It is rare for this condition to occur. There is the possibility of inheritance. Thrombocythemia is a genetic disorder.
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Von Willebrand disease is another cause of bleeding in people with extremely high platelet counts. This disease has an impact on how blood clots form.
How Does Essential Thrombocythemia (ET) Develop?
When the DNA a genetic material of the stem cell damages essential thrombocytopenia. The stem cells of bone marrow are responsible for the formation of blood cells. The blood cells are white blood cells, red blood cells, and platelets.
Mutation of cells leads to overproduction of blood cells, especially platelets. Along with platelets, red blood cells and white blood cells are also overproduced. Platelet overproduction is the main affected cell. These are called megakaryocytes. Increased platelets are released into the bloodstream.
Platelets function to form plugs in response to blood vessel injury. This function helps control bleeding and prevents bleeding. When platelets are abnormally high, they do not function properly and may lead to blockages in the blood vessels called thrombus. Sometimes, increased platelets may lead to bleeding problems.
Thrombocythemia refers to an increased platelet count. Essential means the innate problem of blood cell production in the bone marrow.
Inheritance:
Most cases of ET are not considered to be inherited. However, it may be caused by changes in the genes, called gene mutations. These changes occur in early blood-forming cells after conception and are called somatic mutations.
Sometimes, ET is inherited through an autosomal dominant pattern. In this type, one copy of a changed gene is sufficient to cause the disorder. When ET is inherited, it is called familial ET.
Disorders with Similar Symptoms:
Symptoms of myeloproliferative disorders are similar to those of ET.
These include
Polycythemia Vera: A chronic disorder that causes overproduction of blood cells, especially red blood cells.
Primary Myelofibrosis: In this condition, the blood cell production and scarring are abnormal (formation of fibrous tissue occurs).
Chronic Myelogenous Leukemia (CML): In this condition, there is an excessive development of white blood cells that occurs in the spongy tissue of the large bones of the body (bone marrow), spleen, liver, and blood.
What Are the Symptoms and Indicators of Thrombocythemia?
Symptoms of thrombocythemia may include:
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Tinnitus and loss of vision.
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Dizziness.
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An artery or vein clot usually develops in the hands, feet, and brain.
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Bleeding after surgery or injury.
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Difficulty concentrating.
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Chest pain and bone pain.
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Bloody stools.
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Heavy periods in women.
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Numbness of the hands and feet.
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Erythromelalgia (redness, warmth, and pain in the hands and feet.)
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Blood clots in arteries and veins, most often in hands, feet, and brain.
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Bruising or bleeding from the nose, gums, and GI (gastrointestinal) tract.
How to Diagnose Thrombocythemia?
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CBC (Complete Blood Count): The results of this test determine the number of red blood cells, white blood cells, and platelets in the blood.
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Blood Smears: They are viewed through a microscope to determine the number of blood cells in a sample.
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Bone Marrow Aspiration or Biopsy: This test determines how healthy the bone marrow is.
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Genetic: This test looks for changes or mutations in genes that control the body's production of platelets.
How Is Thrombocythemia Prevented and Treated?
Treatment is determined by the degree of the symptoms, age, and overall health. In addition, the severity of the condition will determine the treatment. In general, treatment is done to ease symptoms and prevent blood clots. The treatments include the following:
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Low-Dose Aspirin -This treatment is for people at risk of blood clots.
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Chemotherapy -This treatment is usually given through pills, injections, or combinations of both. The oral chemotherapy medication Hydroxyurea or Anagrelide may be administered with the injection of Interferon Alpha.
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Plateletpheresis—This procedure removes platelets from the blood. It is rarely required for this condition.
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Radioactive Phosphorus (32P) - Radioactive phosphorus is a rarely used treatment where the medication is injected into the veins. As a result of this act, the production of platelets will be brought down to normal levels for a longer period of time.
What Are Thrombocythemia-Related Complications?
If not treated, thrombocythemia can lead to a variety of life-threatening consequences, including:
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Heart problems.
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Enlarged spleen or spleen dysfunctions.
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Blood clots.
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Pregnancy complications in women.
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Gastrointestinal (GI) problems.
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It may also lead to cancer.
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Gout (a kind of arthritis characterized by significant joint pain, redness, and tenderness.).
What Is the Prognosis and How Do To Live With Thrombocythemia?
Patients with essential thrombocythemia have roughly the same life expectancy as the general population. Living with thrombocythemia can be challenging. However, patients can manage it by following a few guidelines to help regulate it.
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Avoid smoking; it may increase the risk of blood clots.
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Monitor other health conditions like high cholesterol, hypertension, and diabetes.
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Checkups and blood tests are necessary regularly.
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Making a few lifestyle modifications to gain control and reduce the difficulties.
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Keep a record of any new signs and symptoms and notify the doctor.
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There is a lot of help out there to maintain a better lifestyle.
Conclusion
In conclusion, thrombocythemia is a slowly progressing illness in which the bone marrow generates an abnormally large number of platelets, and it is not caused by other medical disorders. Also known as essential thrombocythemia. It is often caused by a genetic mutation that can occur anywhere in a person's life. Most of the time, it is discovered accidentally during a regular blood test done for another problem. Medication that lowers the platelet count is used for therapy. This is common among older people. A person with ET can live a long and healthy life with excellent health.