Essential Thrombocythemia

Essential thrombocythemia is a chronic blood disorder in which the bone marrow produces large amounts of platelets.

Platelets are fragments of megakaryocytes that help the blood to coagulate when there is an injury to the vessels.

This rare disease occurs mostly in people over the age of 50 and usually affects women more than men. This condition increases the risk of clot formation.These clots can block the small arteries in the body especially the head and thus disturb blood flow to the brain. This manifests as lightheadedness.

Other symptoms include fatigue, headaches and problems with vision. There is no cure for essential thrombocythemia. The mild form of essential thrombocythemia does not require treatment while the severe form requires treatment.

Treatment can be achieved by administration of blood thinners which dissolve clots and prevent the formation of new clots.

The most common symptoms of essential thrombocythemia are:

• blood clots,
• headaches,
• dizziness,
• nausea,
• vomiting,
• abdominal pain
• visual disturbances.

Clots are usually the first indication of essential thrombocythemia and mostly occur in the head, hands and feet. Once the clots have formed, they can decrease or completely block the vessels supplying these areas.

Symptoms such as headaches, dizziness, fatigue and numbness or tingling of the hands and feet.

In some rare cases, essential thrombocythemia can cause bleeding especially if the level of platelets is extremely high. Bleeding can be in the form of nosebleeds, bruises and bloody stools.

The exact cause of essential thrombocythemia is not known. 

Platelets are fragments of megakaryocytes, these cells are produced in the bone marrow along with red blood cells and white blood cells.

The normal range of platelets in blood is from 150,000 to 450,000 platelets per microliter of blood. In essential thrombocythemia, the bone marrow produces too many megakaryocytes.

The excess platelets usually do not function well leading abnormal clotting or bleeding. 

Gene mutations have been observed in most patients with essential thrombocythemia.

The Janus kinase 2 (JAK2), calreticulin (CALR) or MPL genes can undergo mutations which can lead to this disease.

Diagnosis of essential thrombocythemia is based on determining the amount of platelets in the blood.

Blood tests include : Complete blood count, blood smear and genetic sampling.

A complete blood count determines the amount of platelets in the blood while a blood smear the size and activity of platelets is determined.

In genetic testing chromosomal abnormalities that can be cause high platelet count are investigated.

There is no way to specifically prevent essential thrombocythemia. However, maintaining a healthy lifestyle can help alleviate symptoms,

The risk of blood-clotting or bleeding usually determines the course of the treatment.

Medications such as aspirin can be prescribed to reduce platelet-count or prevent the formation of blood clots.

Some other drugs like Hydroxyurea can also be given since they reduce the platelet count by depressing the activity of the bone marrow (decrease the production of magakaryocytes). Interferon is usually given to pregnant women who have essential hypertension since it has no negative effects on the fetus.

In emergency cases, a medical procedure called platelet pheresis can be performed. It temporarily lowers the amount of platelets in the blood. In this procedure a needle connected to a tube which allows the blood to flow into a device that removes platelets, after which the blood is returned to the body.

A few alternative and homeopathic remedies are used for managing the symptoms of essential thrombocythemia.

Patients with essential thrombocythemia can take low doses of aspirin since aspirin prevents platelets from sticking to each other consequently preventing clot formation. It is often used in pregnancy because it has a low risk of causing side effects to the fetus.

Having a healthy lifestyle can lower the risk of developing conditions that may contribute to blood clotting. These include diabetes, high blood pressure and high blood cholesterol.

One can achieve this by:

• Eating healthy foods that contain all the needed nutrients
• Avoiding trans fats
• Exercising regularly

There are several complications associated with essential thrombocythemia.

The abnormal clotting seen in throbocythemia can be very serious. They include:

• stroke,
• heart attack,
• pregnancy complications.

A stroke occurs when a blood clot blocks the vessels that supply the brain with blood. This deprives the brain of oxygen and nutrients. A heart attack occurs as result of clots blocking blood flow to the myocardium (muscle of the heart).

The symptoms of heart attack are pain in the chest that extends to the left arm, back and shoulder, shortness of breath and clammy skin.

Some patients may develop acute myelogenous leukemia or myelofibrosis- a rapidly progressive bone marrow disorder which results in scarring of bone marrow.