What is the definition of Essential Thrombocythemia?

Essential thrombocythemia (ET) is a condition in which the bone marrow produces too many platelets. Platelets are a part of the blood that aids in blood clotting.

What are the alternative names for Essential Thrombocythemia?

Primary thrombocythemia; Essential thrombocytosis

What are the causes for Essential Thrombocythemia?

ET results from an overproduction of platelets. As these platelets do not work normally, blood clots and bleeding are common problems. Untreated, ET worsens over time.

ET is part of a group of conditions known as myeloproliferative disorders. Others include:

• Chronic myelogenous leukemia (cancer that starts in the bone marrow)
• Polycythemia vera (bone marrow disease that leads to an abnormal increase in the number of blood cells)
• Primary myelofibrosis (disorder of the bone marrow in which the marrow is replaced by fibrous scar tissue)

Many people with ET have a mutation of a gene (JAK2, CALR, or MPL).

ET is most common in middle aged people. It can also be seen in younger people, especially women under age 40.

What are the symptoms for Essential Thrombocythemia?

Symptoms of blood clots may include any of the following:

• Headache (most common)
• Tingling, coldness, or blueness in the hands and feet
• Feeling dizzy or lightheaded
• Vision problems
• Mini-strokes (transient ischemic attacks) or stroke

If bleeding is a problem, symptoms may include any of the following:

• Easy bruising and nosebleeds
• Bleeding from the gastrointestinal tract, respiratory system, urinary tract, or skin
• Bleeding from the gums
• Prolonged bleeding from surgical procedures or tooth removal

What are the current treatments for Essential Thrombocythemia?

If you have life-threatening complications, you may have a treatment called platelet pheresis. It quickly reduces platelets in the blood.

Long-term, medicines are used to decrease the platelet count to avoid complications. The most common medicines used include hydroxyurea, interferon-alpha, or anagrelide. In some people with a JAK2 mutation, specific inhibitors of the JAK2 protein may be used.

In people who are at a high risk of clotting, aspirin at a low dose (81 to 100 mg per day) may decrease clotting episodes.

Many people do not need any treatment, but they must be followed closely by their provider.

What is the outlook (prognosis) for Essential Thrombocythemia?

Outcomes may vary. Most people can go for long periods without complications and have a normal lifespan. In a small number of people, complications from bleeding and blood clots can cause serious problems.

In rare cases, the disease can change into acute leukemia or myelofibrosis.

What are the possible complications for Essential Thrombocythemia?

Complications may include:

• Acute leukemia or myelofibrosis
• Severe bleeding (hemorrhage)
• Stroke, heart attack, or blood clots in the hands or feet

When should I contact a medical professional for Essential Thrombocythemia?

Call your provider if:

• You have unexplained bleeding that continues longer than it should.
• You notice chest pain, leg pain, confusion, weakness, numbness, or other new symptoms.

REFERENCES

Mascarenhas J, Iancu-Rubin C, Kremyanskaya M, Najfeld V, Hoffman R. Essential thrombocythemia. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 69.

Tefferi A. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 166.