Essential thrombocythemia is a rare genetic disorder that affects platelets, the blood cells that control bleeding. People with this condition develop many blood clots. This increases their risk of heart attack or stroke. Healthcare providers treat this condition by reducing platelet levels, which reduces the risk of serious complications.
Essential thrombocythemia or primary thrombocythemia (pronounced thräm-bō-sī-thē-mē-ə) is a rare blood disorder that happens when abnormal stem cells in your bone marrow make too many platelets. Platelets are blood cells that slow or stop bleeding by creating blood clots. Essential thrombocythemia is an acquired genetic condition, meaning it happens when certain genes mutate or change.
You may learn you have this condition when a routine blood test shows your platelet levels are unusually high. You may not have symptoms and you may not need immediate treatment. Essential thrombocythemia is not curable but treatment may reduce the risk you’ll develop serious complications.
Essential thrombocythemia affects your platelets, the tiny, sticky blood cells that are first on the scene if your blood vessels rupture from injury or disease. Because platelets are sticky, they quickly form clumps that literally plug holes in damaged blood vessels.
Your bone marrow produces platelets along with red and white blood cells. Normally, your bone marrow acts like a factory supervisor, carefully monitoring supply and demand so you have just enough platelets on hand to slow or stop bleeding.
In essential thrombocythemia, however, your bone marrow produces more platelets than your body needs. The abnormal platelets are also larger than normal and oddly shaped. Like excess inventory that takes up space in already-crowded storage areas, the abnormal platelets make blood clots that crowd into blood vessels and block blood flow.
Essential thrombocythemia can cause blood clots anywhere in your body, especially in your brain, hands and feet. People who are pregnant or planning to become pregnant have additional risk of developing blood clots during pregnancy.
This condition may also cause unusual or excessive bleeding. That may sound odd since essential thrombocythemia usually makes your blood clot, or stop flowing. In this situation, unusual or excessive bleeding happens because the dramatic increase in blood clots uses up platelets in your bloodstream, leaving you without platelets to slow or stop bleeding. People with essential thrombocythemia may have increased risk of a heart attack or a stroke.
No, but some people with essential thrombocythemia may develop leukemia.
If you have essential thrombocythemia, you have a high platelet count that isn’t related to another medical condition. If you have reactive thrombocytosis, your platelet count is high because you have another disease or condition. Thrombocytosis is more common than thrombocythemia.
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Essential thrombocythemia is a rare disease that affects about 2 in 100,000 people in the United States. This condition affects twice as many people assigned female at birth (AFAB) than people assigned male at birth (AMAB).
This condition typically affects people between age 60 and 80. About 20% of all cases involve people age 40 and below. Children rarely have this condition, and when they do, it’s because they inherited it from a biological parent.
Essential thrombocythemia symptoms may vary from person to person. This condition develops over time as your bone marrow produces more platelets and your platelet levels rise. You can have this condition without having any symptoms. As platelet levels rise, you may develop blood clot symptoms. Blood clots from essential thrombocythemia can form anywhere in your body but they typically form in your brain, hands or feet.
Blood clots are a potential problem any time someone is pregnant. Women and people assigned female at birth with essential thrombocythemia have an increased risk for blood clots. Some common essential thrombocythemia treatments aren’t appropriate for people who are pregnant or planning to be pregnant.
Remember, essential thrombocythemia may cause people to have heart attacks and/or strokes. If you have this condition and think you may be having a heart attack or stroke, call 911 immediately.
Essential thrombocythemia is an acquired genetic disorder. You’re not born with these disorders. Instead, they happen when genes inside certain cells mutate or change. In this case, the genes that mutate affect stem cells in your bone marrow that make blood cells. Those genes are JAK2, CALR and MPL:
When these genes mutate, they set off a chain reaction that puts stem cell production into overdrive, producing more platelets than your body can use.
Healthcare providers diagnose this condition by doing a physical examination. They may ask about your symptoms and if you have family members with similar problems. They typically order the following tests:
Test results help providers assess your risk and create treatment plans. In general, the factors that put you at an increased risk of essential thrombocythemia include:
That depends on your situation. Some people have this condition but don’t have symptoms. In that case, healthcare providers may recommend watchful waiting. Just as it sounds, watchful waiting means healthcare providers watch over your health, waiting for early indications of essential thrombocythemia symptoms.
Healthcare providers may treat essential thrombocythemia with medications that prevent blood clots and/or lower platelet levels. Medications include:
If you have very high platelet levels, your provider may recommend plateletpheresis to lower your platelet levels right away. In plateletpheresis, healthcare providers use a special machine to remove some of your platelets from your bloodstream.
No, you can’t. Essential thrombocythemia is an acquired genetic disorder that happens when certain genes mutate. Researchers don’t know why these genes mutate, so you can’t prevent that from happening.
Absolutely. Even if you have symptoms, providers can provide treatments to prevent serious complications such as stroke or heart attack.
People with this condition may not live as long as people who don’t have it. Many things affect how long you may live. If you have this condition, talk to your healthcare provider about your prognosis. They know you and your situation and are your best resource for this kind of information.
People with essential thrombocythemia have an increased risk of developing blood clots and/or bleeding more than usual. You may reduce that risk by:
You should have regular checkups so your provider can evaluate your overall health and check for essential thrombocythemia symptoms. They may do blood tests to check on platelet levels.
People who have essential thrombocythemia are at risk for heart attack and stroke. If you have the following symptoms, call 911 right away.
Women and people AFAB may have different symptoms. They’re less likely to have chest pain and/or feeling as they have indigestion. They may have the following symptoms:
Essential thrombocythemia is a rare disease. You may wonder why you developed this disease and what you can do about it. Here are some questions you may want to ask your provider:
A note from Cleveland Clinic
Essential thrombocythemia is a rare genetic disorder that affects your platelets, increasing your risk of developing blood clots, having a heart attack or a stroke. Essential thrombocythemia is an acquired genetic disorder. You don’t inherit this disorder. It happens when something causes certain genes to change or mutate after you’re born. Healthcare providers can’t cure essential thrombocythemia, but they can prevent blood clots with treatments that reduce platelet levels — and your risk of heart attack or stroke.
Last reviewed by a Cleveland Clinic medical professional on 08/17/2022.
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