Essential thrombocythemia (ET) is a blood condition where there is uncontrolled production of blood cells by the bone marrow. People with essential thrombocythemia will have too many platelets which results in a higher risk of forming blood clots.
Patients with ET present in different ways.
Symptoms include:
For many, they may not have any symptoms, but abnormalities were detected after a routine blood test.
Many patients with essential thrombocythemia are recognized incidentally during routine blood test.
Essential thrombocythemia occurs when there is a mutation in genes which is involved in the regulation of blood cell production. The cause of the gene mutation is unknown and is usually not an inheritable mutation.
To make a diagnosis of essential thrombocythemia, patients will require blood tests including a full blood count and tests for the mutations (gene alterations) found with MPN. The gene alteration usually associated are Jak2 V617F, Calreticulin (CALR), and MPL.
Patients may need a bone marrow aspiration and trephine biopsy, as well as additional tests to exclude other causes of elevated blood counts.
The treatment of essential thrombocythemia includes
Good control of pre-existing conditions such as high blood pressure, high cholesterol and diabetes mellitus also helps to decrease the risk of blood clot.
A healthy lifestyle including regular exercise and a healthy diet is also recommended.
In patients who require reduction of the platelet count, this can be achieved with medication: hydroxyurea, anagrelide, PEGylated interferon.
Young patients with no history of previous blood clots generally do not need medications to reduce the platelet count.
