Home Symptoms Essential thrombocythaemia: symptoms, diagnosis and treatment

Essential thrombocythaemia: symptoms, diagnosis and treatment

Anonim

Essential thrombocythemia, or TE, is a hematological disease characterized by an increase in the concentration of platelets in the blood, which increases the risk of thrombosis and bleeding.

This disease is usually asymptomatic, being discovered only after a routine blood count is performed. However, the diagnosis is only confirmed by the doctor after excluding other possible causes of the increase in platelets, such as iron deficiency anemia, for example.

Treatment is usually done with drugs that are able to reduce the number of platelets in the blood and decrease the risk of thrombosis, and should be used as directed by the general practitioner or hematologist.

Blood smear in which the highlighted platelets can be seen

Main symptoms

Essential thrombocythemia is usually asymptomatic, being noticed only after the blood count, for example. However, it can result in some symptoms, the main ones being:

  • Burning sensation in the feet and hands; Splenomegaly, which is an enlarged spleen; Chest pain; Sweating; Weakness; Headache; Transient blindness, which may be partial or complete; Weight loss.

In addition, people diagnosed with essential thrombocythemia are at increased risk of thrombosis and bleeding. This disease is more common in people over 60, but it can also happen in people under 40.

Is essential thrombocythemia cancer?

Essential thrombocythemia is not cancer, since there is no proliferation of malignant cells, but normal cells, in this case, platelets, characterizing the condition of thrombocytosis or thrombocytosis. This disease remains stable for about 10 to 20 years and has a low rate of leukemic transformation, less than 5%.

How the diagnosis is made

The diagnosis is made by the general practitioner or hematologist according to the signs and symptoms presented by the patient, in addition to the results of laboratory tests. It is also important to exclude other causes of increased platelets, such as inflammatory diseases, myelodysplasia and iron deficiency, for example. Know the main causes of platelet enlargement.

The laboratory diagnosis of essential thrombocythemia is initially made by analyzing the blood count, in which the increase in platelets is observed, with a value above 450, 000 platelets / mm³ of blood. Normally, the platelet concentration is repeated on different days to see if the value remains increased.

If platelet count is sustained, genetic tests are performed to check for the presence of a mutation that may be indicative of essential thrombocythemia, the JAK2 V617F mutation, which is present in more than 50% of patients. If the presence of this mutation is verified, it is necessary to exclude the occurrence of other malignant diseases and to check the nutritional iron stores.

In some cases, bone marrow biopsy can be performed, in which an increase in the concentration of megakaryocytes, which are the precursor blood cells of platelets, can be observed.

Treatment for essential thrombocythemia

The treatment for essential thrombocythemia aims to decrease the risk of thrombosis and hemorrhage, and it is usually recommended by the doctor to use medications to decrease the amount of platelets in the blood, such as Anagrelide and Hydroxyurea, for example.

Hydroxyurea is the drug normally recommended for people considered to be at high risk, that is, who are over 60 years old, have had an episode of thrombosis and have a platelet count above 1500000 / mm³ of blood. However, this medication has some side effects, such as skin hyperpigmentation, nausea and vomiting.

The treatment of patients characterized as low risk, those under 40 years of age, is usually done with acetylsalicylic acid according to the guidance of the general practitioner or hematologist.

In addition, to reduce the risk of thrombosis it is important to avoid smoking and treat possible underlying diseases, such as hypertension, obesity and diabetes, as they increase the risk of thrombosis. Know what to do to prevent thrombosis.

Essential thrombocythaemia: symptoms, diagnosis and treatment