Essential Thrombocythemia (ET) is a disorder that is uncommon and involves a person's body producing excessive numbers of blood platelets. ET is also known as, 'Primary Thrombocythemia,' and is one of a group of diseases of a person's blood and bone marrow referred to as, 'Myeloproliferative Neoplasms.' Common symptoms of ET include lightheadedness, vision changes, headache, and numbness or burning pain or tingling in a person's feet or hands.
ET is something that occurs most often in people who are over the age of fifty and women. People may not require treatment for ET if they do not experience any symptoms. If a person with ET is experiencing blood clotting or bleeding, there are medications that can help them to avoid complications that are potentially serious.
A number of people with ET do not experience any signs or symptoms; their first indication of the disorder might be the development of a blood clot. While blood clots may develop anywhere in a person's body, with ET they happen most often in the person's feet, hands, or their brain. The signs and symptoms depend upon where the clot forms in the person and may include the following:
Less common symptoms of ET can include bleeding, particularly if a person's platelet count is very high. The bleeding may take the form of bruising, nosebleeds, blood stool, or bleeding of the person's gums or mouth. A blood clot might cause a, 'transient ischemic attack (TIA),' which is a temporary interruption of the blood flow to a portion of the person's brain, or a stroke. The signs and symptoms of a TIA develop quickly and can include:
Causes of Essential Thrombocythemia
The exact cause of Essential Thrombocythemia (ET) and other forms of Myeloproliferative Neoplasms remains unknown to medical science. Approximately half of the people who experience the disorder have a mutation of the, 'Janus Kinase 2 (JAK2),' gene. Other gene mutations have also been associated with ET, although their role in causing the disease is still under investigation. A rare form of thrombocythemia is inherited.
People with ET have bone marrow that produces excessive numbers of platelet-forming cells that release too many platelets into their blood. The platelets might not function as they should, leading to bleeding or clotting. A high platelet count caused by an underlying condition such as an iron deficiency or an infection is referred to as, 'reactive,' or, 'secondary,' thrombocytosis.
Bone marrow is a spongy tissue inside a person's bones that contains stem cells that can become red blood cells, white blood cells, or platelets. Platelets travel throughout a person's blood vessels and have the potential to stick together and form clots which stop bleeding when a person damages a blood vessel; for example, when they get cut. An average platelet count for a person falls in the range of 150,000-450,000 platelets per micro-liter of blood.
Complications of Essential Thrombocythemia
The potential for clotting presented by Essential Thrombocythemia (ET) may lead to a number of potentially serious complications. The complications can affect a pregnancy, cause a stroke, or a heart attack. The complications can also include Myelofibrosis, acute leukemia, or bleeding with significant blood loss. What follows are descriptions of some complications related to ET.
Stroke: A blood clot that forms and blocks the blood flow to a person's brain may cause a stroke.
Pregnancy: Thrombocythemia that is uncontrolled may cause a miscarriage, high blood pressure, premature delivery, early separation of the placenta from the uterine wall, and slow fetal growth.
Heart Attack: A clot that forms and block the flow of blood to a person's heart can cause a heart attack. The signs and symptoms can include pressure, squeezing pain, or fullness in the center of a person's chest that lasts more than a few minutes, as well as pain that extends from their shoulder, arm, back, teeth or jaw. Additional symptoms include shortness of breath, sweating, or clammy skin.
Acute Leukemia: Acute myelogenous leukemia is a form of bone and blood marrow cancer that progresses quickly.
Myelofibrosis: Myelofibrosis is a progressive bone marrow disorder that results in bone marrow scarring, enlargement of the person's spleen and liver, and anemia.
Tests and Diagnosis for Essential Thrombocythemia
A number of blood and bone marrow tests are available to help with confirming and diagnosing Essential Thrombocythemia (ET). The tests include the following:
Complete Blood Count (CBC): A CBC is a type of test that helps to determine the number of platelets in a person's blood.
Blood Smear: A small amount of a person's blood is examined during this test through a microscope to view the condition of their platelets. The goal is to find out if they are clumped together, or too large.
Bone Marrow Aspiration: Bone marrow aspiration involves a doctor extracting a small amount of liquid bone marrow through a needle and examining it underneath a microscope for cells that are not average.
Bone Marrow Biopsy: A bone marrow biopsy involves a doctor taking a small sample of a person's solid bone marrow tissue through a needle and examining it under a microscope. If a person has ET, their bone marrow will have a higher than average number of large cells that make platelets.
Genetic Testing: Certain genetic tests can help to determine if a person has chromosomes that may cause them to experience a high platelet count and if they have a JAK2 gene mutation.
A doctor might also check the level of iron in a person's blood, or test for markers of inflammation. If a person's blood count is above 450,000 platelets per micro-liter of blood, their doctor will look for an underlying condition such as ET. If there is no evidence of what is causing the person's high platelet count and it stays high over a period of time, their doctor might suggest a bone marrow test. The two types of bone marrow tests present different and complementary information about a person's blood cells and are often times done together.
Treatment and Medications for Essential Thrombocythemia
Treatment of Essential Thrombocythemia (ET) is dependent upon the person's risk of bleeding or blood clotting episodes. If the person is younger than sixty years old, has experienced no signs or symptoms, and has no additional risk factors for developing blood clots such as smoking - they might just need periodic medical checkups. People who are over the age of sixty and have had prior signs and symptoms of blood clots will most likely find a doctor prescribing medication or a medical procedure to lower their platelet count. Their doctor might also recommend treatment if they have cardiovascular risk factors such as high blood pressure, high cholesterol, or diabetes.
If a person with ET is at risk of blood clots, their doctor might recommend they take low-dose aspirin, especially if they are pregnant. Aspirin makes a person's platelets less, 'sticky,' and their blood less likely to form clots. If a person with ET is taking aspirin while they are pregnant it is important for them to stop taking it at least a week before delivery in order to lower the risk of bleeding complications during delivery. Medications that reduce a person's platelet count that are commonly used to treat ET can include the following:
Hydroxyurea: Hydroxyurea is a medication that suppresses bone marrow production of blood cells, to include platelets. The medication is also used to treat forms of cancer, although it is most commonly prescribed to lower platelets in ET and is used along with low-dose aspirin. People with ET who take hydroxyurea will find their doctor closely monitoring their blood count. A certain level of concern exists that long-term use of this medication might increase a person's risk of developing acute myelogenous leukemia.
Anagrelide: Anagrelide, unlike hydroxyurea, is not associated with an increased risk of leukemia. Unfortunately, the medication is not considered to be as effective as hydroxyurea, and the side effects can include heart issues, fluid retention, dizziness, headaches, diarrhea, and nausea.
Interferon alfa-2B: Interferon alfa-2B is administered through an injection and is less convenient than hydroxyurea or anagrelide. The medication can also cost more and might cause side effects that are less easy for a person to tolerate. The side effects of this medication can include confusion, flu-like symptoms, depression, nausea, seizures, diarrhea, sleepiness, and irritability.
Plateletpheresis: Plateletpheresis is a procedure that is only used during emergencies, such as after a person has experienced a stroke or other dangerous blood clotting. The procedure can be used to quickly lower a person's platelet count. During the procedure an intravenous needle is connected to a tube that is inserted into a person's blood vessel. The person's blood flows through the tube and into a device that removes platelets from their blood. The remaining portion of their blood and their red cells are returned to the person's body through the tube.
Lifestyle Changes and Essential Thrombocythemia
People with Essential Thrombocythemia (ET) need to take extra care to reduce their risk of developing blood clots. A healthy lifestyle can lower their risk of developing conditions that might contribute to blood clotting, such as high blood pressure, diabetes, and high cholesterol. For example; people with ET who smoke should quit smoking because smoking affects circulation and blood clotting.
Eating healthy foods with a varied diet rich in vegetables, whole grains and fruits that are low in saturated fats is important. Avoiding trans fats while learning portion control and maintaining an average weight can also help. It is important for people with ET to increase their level of physical activity as well, aiming for thirty minutes of moderate physical activity each day. A brisk daily walk, a bike ride, or swimming laps are all examples of ways to achieve an adequate level of activity.
If the ET a person experiences increases their tendency to bleed it is important for them to take additional precautions to avoid injury. The person should avoid playing contact sports or pursuing other activities that might be dangerous or cause them to fall. The person should use a softer toothbrush, waxed floss, and shave with an electric razor. It is also important for people with ET who have a tendency to bleed to be cautious with tasks involving scissors, knives, or other sharp tools.
"Primary thrombocythemia is when the bone marrow is making too many platelets without a known cause. Platelets are essential for blood clotting."
MPN Research Foundation - Support Groups
"The MPN Research Foundation has compiled a list patient support groups for people with myelofibrosis, essential thrombocythemia and polycythemia vera."
National Organization for Rare Disorders - Essential Thrombocythemia
"Individuals with ET are at risk for the formation of blood clots (thrombosis), which can restrict blood flow to vital organs, and episodes of uncontrolled bleeding (hemorrhaging)."
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