Essential thrombocythemia is a chronic form of leukemia where patients’ bone marrow makes too many platelets megakaryocytic hyperplasia, and a hemorrhagic or thrombotic tendency. The excess platelets increase the risk of blood clots which can lead to strokes and heart attacks. Symptoms and signs may include weakness, headaches, paresthesias, bleeding, splenomegaly, and erythromelalgia with digital ischemia.
Essential thrombocythemia (ET) is one of several “myeloproliferative neoplasms” (MPNs), a group of closely related blood cancers that share several features, notably the “clonal” overproduction of one or more blood cell lines. All clonal disorders begin with one or more changes (mutations) to the DNA in a single cell; the altered cells in the marrow and the blood are the offspring of that one mutant cell. Other MPNs include polycythemia vera and myelofibrosis.
In ET, there is mainly an overproduction of platelet-forming cells, called “megakaryocytes,” in the marrow. This results in the release of too many platelets into the blood. A platelet is a small blood cell. Its function is to start the process of forming a plug (clot) in response to blood vessel injury in order to prevent or minimize bleeding. When platelets are present in very high numbers they may not function normally and may cause a blockage in blood vessels, known as a “thrombus.” Less often, a high number of platelets can also cause bleeding problems. Another word for platelet is “thrombocyte.” The term “thrombocythemia” means an excess of platelets in theblood. The term “essential” indicates that the increase inplatelets is an innate problem of the blood cell production in the bone marrow.
Essential thrombocythaemia is a rare chronic disease diagnosed in an estimated 3 per 100,000 population. Although it can occur at any age, even (rarely) in children, essential thrombocythaemia usually affects older people, with most patients diagnosed between the ages of 50 and 70 years. It occurs equally in both males and females.
Causes
Bone marrow — spongy tissue inside the bones, contains stem cells that can become red blood cells, white blood cells or platelets (thrombocytes). Platelets stick together, helping blood to form a clot that stops bleeding when there is a damage to the blood vessel, such as when a person gets a cut. A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood.
If a person has essential, or primary, thrombocythemia, the bone marrow makes too many platelet-forming cells (megakaryocytes). The excess platelets may not function normally, leading to abnormal clotting or bleeding.
The exact cause of essential thrombocythemia and similar conditions, known as myeloproliferative disorders, isn’t known. About 80 percent of people with the disorder have an acquired gene mutation contributing to the disease. This may involve the Janus kinase 2 (JAK2), calreticulin (CALR) or MPL gene mutation.
A high platelet count that’s caused by an underlying condition such as an infection or iron deficiency is called reactive, or secondary, thrombocythemia. People with secondary thrombocythemia have less risk of blood clots and bleeding than do people with essential thrombocythemia.
Risk Factors
Some risk factors associated with ET include –
- Gender – Women are 1.5 times more likely than men to develop the condition.
- Age – People older than 60 are most likely to develop the condition, although 20 percent of those affected are younger than 40.
- Environment – Exposure to chemicals or to electrical wiring may increase an individual’s risk for the condition.
Symptoms
Many patients are asymptomatic, diagnosed after blood counts as part of a routine check-up reveal a high platelet count. When symptoms are present, they may include fatigue, or may be related to small or large vessel disturbance or bleeding.
Small vessel disturbances (often considered vasomotor in nature) can lead to –
- Headache
- Vision disturbances or silent migraines
- Dizziness or lightheadedness
- Coldness or blueness of fingers or toes
- Burning, redness, and pain in the hands and feet
Thrombotic complications can be quite serious, leading to –
- Stroke
- Transient ischemic attack (TIA)
- Heart attack
- Deep vein thrombosis or Pulmonary Embolus (blood clot in the lung)
Bleeding can manifest as –
- Easy bruising, nosebleeds or heavy periods
- Gastrointestinal bleeding or blood in the urine
Other Symptoms –
- Weakness
- Bruising and bleeding
- Gout
- Ocular migraines
- Paresthesias of the hands and feet
- Thrombosis and thromboembolic events
Complications
The abnormal blood clotting of essential thrombocythemia can lead to a variety of potentially serious complications, including –
- Pregnancy complications – While many women who have thrombocythemia have normal, healthy pregnancies, uncontrolled thrombocythemia can lead to miscarriage and other complications. The risk of complications may be reduced with regular checkups and medication, so be sure to have the doctor regularly monitor the condition.
- Stroke – A clot that blocks blood flow to the brain can cause a stroke. If a person develops signs and symptoms of a stroke, get immediate medical attention.
- Heart attack – A clot that obstructs blood flow to the heart can cause a heart attack. Get immediate attention if a person develops signs and symptoms of a heart attack. These include pressure, fullness or a squeezing pain in the center of the chest lasting more than a few minutes; pain extending to the shoulder, arm, back, teeth or jaw; shortness of breath; and sweating or clammy skin.
Essential thrombocythemia can also cause bleeding with significant blood loss. A small number of people with essential thrombocythemia may later progress to these potentially life-threatening diseases –
- Acute myelogenous leukemia – This is a type of white blood cell and bone marrow cancer that progresses rapidly.
- Myelofibrosis – This progressive bone marrow disorder results in bone marrow scarring, leading to severe anemia and enlargement of the liver and spleen.
Treatment
Drug Therapy – The drugs most commonly used to treat ET are hydroxyurea (Hydrea), anagrelide (Agrylin) and interferon alfa (immediate-release preparations Intron A and Roferon-A and sustained-release preparations PEG-Intron and Pegasys).
- Low-dose aspirin– may treat headache and burning pain in the skin.
- Hydroxyurea (Droxia, Hydrea) or anagrelide (Agrylin)– reduces number of blood cells.
- Aminocaproic acid– reduces bleeding. This treatment may be used before surgery to prevent bleeding as well
Plateletpheresis – During plateletpheresis, a special machine filters the excess platelets out of the blood. This is usually done only when the platelet count is very high, and the effect is temporary.
Alternative and Complementary Treatment
Multivitamins – A daily multivitamin, containing the antioxidant vitamins A, C, E, the B-complex vitamins, and trace minerals such as magnesium, calcium, zinc, and selenium.
Omega-3 fatty acids, such as fish oil, 1 – 2 capsules or 1 – 3 tablespoonfuls oil, 1 – 3 times daily, to help decrease inflammation and help with immunity.
Probiotic supplement (containing Lactobacillus acidophilus), 5 – 10 billion CFUs (colony forming units) a day, when needed for maintenance of gastrointestinal and immune health. Refrigerate your probiotic supplements for best results. People with weakened immune systems or those who take drugs to suppress the immune system should ask their doctor before taking probiotics.
Indirubin– In case reports, indirubin showed positive results in treating CML long-term. However, no scientific studies have been done on using indirubin for CML. Indirubin is from the indigo plant and is included in a traditional Chinese herb formula that has been used historically to treat CML.
Olive leaf for anticancer and immune effects. People with diabetes and high blood pressure should ask their doctor before taking olive leaf.
Turmericfor pain and inflammation. Do not use turmeric in case of gallbladder problems. Turmeric may increase the risk of bleeding.
Aromatherapy – Aromatherapy is the use of essential oils (fragrant substances distilled from plants) to alter mood or improve health. Essential oils are highly concentrated aromatic substances that can either be inhaled or applied as oils during therapeutic massage. For inhalation, steaming water, diffusers, or humidifiers are used to spread a combination of the steam and a few drops of the essential oil throughout the room. For skin application, essential oils are usually mixed with vegetable oil and massaged directly into the skin.
Art therapy uses creative activities to express emotions and provides a way for people to increase self-awareness, express unspoken concerns about their disease, or come to terms with emotional conflicts.
Meditation is a relaxation method that can be useful as a complementary therapy for treating chronic pain, insomnia, and improving the overall quality of life. There is no evidence that meditation is effective in directly treating cancer, however.
Acupuncture is a CAM therapy in which very thin needles are inserted through the skin at various locations called acupoints. In Chinese medicine, acupuncture is used as an anesthetic during surgery, relieve the symptoms of a variety of conditions, and is believed to have the power to cure certain diseases.
Reference –
https://stanfordhealthcare.org/medical-conditions/cancer/essential-thrombocythemia.html
http://www.mayoclinic.org/diseases-conditions/thrombocythemia/basics/complications/con-20034386
http://www.siloamhospitals.com/diseases-and-conditions/essential-thrombocythemia
https://www.uihealthcare.org/health-library/essential-thrombocythemia/
http://www.haematologica.org/content/93/3/331
http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-3
http://www.scielo.br/scielo.php?pid=S1516-84842013000400287&script=sci_arttext
http://patient.info/doctor/thrombocytosis
http://www.nature.com/leu/journal/v27/n8/full/leu201399a.html
http://www.nejm.org/doi/full/10.1056/NEJMoa043800