Thrombocythemia - Specialists and Information

A characteristic feature of essential (primary) thrombocythemia is a chronic increase in the number of platelets in the blood. Doctors refer to this as thrombocytosis.

Thrombocytes, also known as blood platelets, play a crucial role in blood clotting. When an injury occurs, they adhere to the surrounding tissue, seal the wound, and ensure that the bleeding stops.

Thrombocythemia belongs to a group of malignant diseases of the hematopoietic system (myeloproliferative neoplasms) and is relatively rare.

In Western industrialized countries, approximately 2.5 out of every 100,000 people are diagnosed with the disease each year. Most patients are between the ages of 20 and 40 or between 60 and 70. Women are diagnosed twice as often as men.

Like all myeloproliferative disorders, thrombocythemia has a genetic component. Due to a mutation in the genes of the hematopoietic stem cells, these cells produce platelets uncontrollably.

Thrombocythemia is characterized by a significantly increased production of platelets (purple) @ MdBabul /AdobeStock

The main symptoms of the disease are a constant or slowly rising increase in platelet count in the blood. 

The consequences are:

• Circulatory disorders in the small blood vessels and 
• functional problems in various organs

Impaired blood circulation in the fingers and toes leads to painful redness accompanied by swelling and a burning sensation. In this case, the doctor refers to the condition as erythromelalgia.

Pain while walking due to poor blood flow in the legs, as well as difficulty concentrating and visual disturbances, are also among the symptoms of thrombocythemia.

The liver and spleen break down the platelets after 5–12 days. Due to the increased accumulation of platelets, both organs may swell. This hepatosplenomegaly manifests in affected individuals as pain or a feeling of pressure in the upper abdomen.

Although there are increased levels of blood-clotting platelets in the blood, some of them are non-functional. Consequently, in rare cases—and particularly when platelet counts are significantly elevated—life-threatening bleeding may occur. 

Due to the increased viscosity of the blood, there is an elevated risk of thromboembolic complications such as heart attack or stroke. These two events are the leading causes of death in thrombocythemia.

There is no cure for this condition. Treatment is aimed at alleviating the patient’s symptoms while also preventing complications. 

First, the patient should take general measures to reduce the risk of thromboembolism. 

These include:

• Weight loss if overweight
• Regular exercise
• Drinking enough fluids to prevent dehydration
• Wearing compression stockings
• Avoiding prolonged sitting

In addition, antiplatelet and cytoreductive therapy options are used. Antiplatelet treatment with aspirin is intended to prevent blood clot formation and vascular occlusions. 

Cytoreductive therapy is administered using, among other agents, interferon-alpha or hydroxyurea. The goal is to reduce the number of platelets in the blood.

Compared to other chronic myeloproliferative disorders, essential thrombocythemia has a fairly good prognosis. As a result, those affected generally have a normal life expectancy. However, severe disabilities can occur as a result of complications such as a heart attack or stroke.

Despite intensive research, thrombocythemia is currently still one of the diseases for which there is no curative drug therapy. 

Nevertheless, a doctor can support the patient throughout the course of their individual disease and help alleviate potential symptoms. Treatment tailored to the patient’s specific situation can improve their quality of life.

Thrombocythemia is a malignant disease (cancer) of the hematopoietic system and is characterized by an elevated platelet count in the blood. 

This thrombocytosis leads to circulatory disorders and/or bleeding. A cure for the disease is not possible; however, drug therapies can help those affected achieve a normal life expectancy.