What is essential thrombocythaemia (ET)?

Essential thrombocythaemia (ET) is a rare blood cancer that causes a high number of blood cells called platelets to form. These are blood cells involved in blood clotting.

Thrombo means clotting and cythaemia relates to blood cells. It is also known as primary thrombocythaemia or essential thrombocytosis.

Essential thrombocythaemia is a type of blood disorder called a myeloproliferative neoplasm. These are conditions that cause an increase in the number of blood cells.

The World Health Organisation (WHO) classes all myeloproliferative neoplasms as blood cancers. This is because the bone marrow is producing blood cells in an uncontrolled way. But many people with myeloproliferative neoplasms feel well and only need gentle treatment. The disorders often develop slowly and progress slowly. Or they can remain stable for a while.

ET usually develops very slowly. It can affect people of any age. But it usually affects middle aged and older people. The average age at diagnosis is about 65 years although it can affect children and young adults.

The bone marrow

The bone marrow is the soft inner part of our bones that makes blood cells. All blood cells start from the same type of cell called a stem cell. The stem cell makes immature blood cells. The immature cells go through various stages of development before they become fully developed blood cells and are released into the blood. As well as platelets, the bone marrow makes:

• red blood cells to carry oxygen around our bodies

• white blood cells to fight infection

This diagram shows how different types of cells develop from a single blood stem cell:

What happens in essential thrombocythameia (ET)?

In essential thrombocythaemia, the stem cells make too many platelets. The extra platelets might form blood clots. The platelets can also collect in the spleen, which makes it bigger.

Treatment controls ET for most people for many years. But for some, ET can lead to other problems, such as scarring of their bone marrow. This is called myelofibrosis. The risk of this happening increases over time.

More rarely ET can develop into acute myeloid leukaemia (AML). Fewer than 5 in 100 people (5%) with ET develop AML.

Risks and causes

We don’t know exactly what causes ET.  Researchers have found that around 50 to 60 in 100 people (around 50 to 60%) with ET have a change in the JAK2 gene. The JAK2 gene makes a protein that controls how many blood cells are made by the stem cells. This gene change causes too much of this protein to be made and that causes the stem cells to make more platelets. People with ET might also have a genetic change in either the CALR or MPL gene.

Genetic faults might happen because you’ve been exposed to hazardous chemicals over time but more research is needed. Often gene changes are because of a copying mistake when a cell is dividing. In most cases, these genetic faults happen during a person’s lifetime. You are not born with them, so you can’t pass them on to your children.

Family history

In rarer cases, you might have a history of myeloproliferative neoplasms (MPNs) in your family. This might mean there is a faulty gene in your family that increases your risk of developing MPNs.

Symptoms of essential thrombocythaemia

Many people find out they have ET when they are having a blood test for something else. This is because ET usually develops slowly and doesn’t cause symptoms at first. As it progresses it causes symptoms.

Most of the symptoms happen as a result of blood clots forming or because of bleeding problems. Bleeding problems are less common than clots. They can develop because the platelets are not fully mature and don’t work normally.

Symptoms include:

• tiredness (fatigue)
• headaches
• dizziness, feeling lightheaded and blurred vision
• burning and tingling in hands and feet - this often feels worse with heat and better with cold
• pain or discomfort in the tummy (abdomen) from an enlarged spleen
• bruising more easily
• purplish mottled skin changes, usually on the legs
• nosebleeds or bleeding gums
• black or tarry poo, if there is any bleeding in the bowel
• vaginal bleeding when you are not due to have a period or abnormally heavy periods

Blood clots

The symptoms of a blood clot depend on where it is in the body. They can form anywhere but most commonly develop in the deep veins in the:

• leg
• lung
• brain
• heart

Not everyone with ET will have these problems. People who have diabetes or heart disease are at higher risk. You may have other health conditions that increase your risk of blood clots. Your specialist will discuss these with you.

Essential thrombocythameia is rare, so if you have any of these symptoms it is more likely to be something else. But it is still important to contact your doctor to find out what is causing them.

Tests

The first test to diagnose essential thrombocythaemia is a blood test.