Essential Thrombocythemia (ET)

What is Essential Thrombocythemia?

Essential thrombocythemia is a chronic, uncommon disease that causes the body to produce too many platelets. This increases the risk of developing blood clots.

The condition is more common in those over 50, and it’s also a bit more common in women, but younger individuals could also develop it.

What are the Symptoms of Essential Thrombocythemia?

Essential thrombocythemia may result in fatigue, lightheadedness, headaches, and changes in your vision.

Often, the first sign that you have essential thrombocythemia is the formation of a blood clot. Blood clots can happen anywhere in the body, but they occur most often within the feet, hands, and brain of patients with essential thrombocythemia. The symptoms will depend upon where the clot formed.

Symptoms include

  • Lightheadedness or dizziness
  • Headache
  • Weakness
  • Chest pain
  • Fainting
  • Vision changes that are temporary
  • Tingling or numbness in the feet and hands
  • Redness, along with a burning and throbbing pain, in the feet and hands

If essential thrombocythemia has caused bleeding, a patient may experience bleeding from the mouth or the gums, bloody stool, bruising, and nosebleeds.

If a blood clot forms within arteries supplying the brain, a transient ischemic attack or stroke could occur. Symptoms will be sudden, and they’ll include difficulty understanding speech and difficulty speaking, vision that’s decreased, double, or blurred, and numbness or weakness in the leg, arm, or face, typically on one side.

Essential Thrombocythemia Causes

There are two different types of thrombocythemia that have two very different sets of causes. Secondary thrombocythemia is caused by another disease or factor at work in the body that causes thrombocythemia as a result. Essential thrombocythemia is not the result of another disease.

Essential thrombocythemia occurs when the bone marrow produces too many platelets in the blood. When the blood has too many platelets, two things can occur. Either the blood will become too thin, or clotting may occur.

For many years, doctors and researchers had no idea as to what caused essential thrombocythemia. In 2005, researchers discovered that up to 60% of those with essential thrombocythemia had a Janus Kinase 2 (JAK2) mutation. This mutation causes the body to produce too many platelets.

In 2013, researchers discovered that 70% of those with essential thrombocythemia also had a mutation of the CALR gene. This gene is also responsible for platelet production.

Some patients with essential thrombocythemia do not have a defect in either gene. As of yet, researchers do not know why these patients develop the condition

How is Essential Thrombocythemia Treated?

Unfortunately, there’s no cure as of yet for essential thrombocythemia. Treatment will be focused on helping patients feel better when they’re symptomatic, as well as reducing the risk of blood clots developing.

Those who have a mild form of this condition may not require any treatment. Those with a severe case will need medication that can lower the platelet count, and may also need to take a blood thinner.

Essential Thrombocythemia Prevention

There is no way currently known to prevent essential thrombocythemia. While there are genetic mutations that are the cause of most cases of the condition, there does not appear to be an inherited genetic link. Therefore, genetic testing of parents would provide no benefit as a screening tool for this condition.

Since essential thrombocythemia causes problems with blood clotting, there are some ways to prevent the condition from becoming worse. Aspirin is known to help prevent the blood from clotting. By taking low dose aspirin, some of the problems associated with essential thrombocythemia may be prevented.

Doctors also recommended maintaining a healthy lifestyle as a means of preventing conditions that would worsen essential thrombocythemia. Always keep weight at a healthy level. Exercise a moderate amount – at least every other day. Do not smoke, and don’t drink excessively.

Last Reviewed:
October 05, 2016
Last Updated:
December 20, 2017