What is erythremia and how is it treated?
Erythremia is a rare benign disease of the blood system, manifested in increased production of certain blood elements by the bone marrow, mainly erythrocytes. Their high concentration leads to its thickening, deterioration of blood flow in the vessels and the formation of blood clots in them.
The disease occurs in people of different ages, although it is usually diagnosed in patients aged 60-80 years, it be symptomless for a long time.
Symptomatically, the pathology manifests itself in the form of itching and redness of the upper and lower extremities, especially after exposure to hot water. Approximately 20% of patients have gout as a complication. The classic symptom of erythremia is erythromelalgia, formerly known as Mitchell's disease. It is a periodic blockage of the vessels of the limbs, which leads to hyperemia and inflammation, the appearance of burning pain in the limb.
Left untreated, erythremia can lead to serious and even fatal consequences.
How is erythremia treated?
The main method is treatment phlebotomy - artificial bloodletting. A decrease in blood volume provokes iron deficiency, which leads to a decrease in the concentration of hemoglobin and in turn reduces the risk of blood clots. Usually the blood volume is reduced to such a level that the hematocrit (percentage of red blood cells) is reduced to 45 in men and 42 in women. In some cases, patients with erythremia have cognitive impairments - lethargy during the day, asthenia, depression, memory impairment. It is noted that phlebotomy, in addition to stabilizing blood parameters, helps to stop such disorders, which is an additional advantage in favor of using this method of therapy.
Phlebotomy can be replaced by erythrocytapheresis - extracorporeal hemocorrection with the removal of erythrocytes from the patient's blood. The principle of this procedure is based on the same mechanisms as phlebotomy, with the only difference that not all blood components are removed from the body, but only those that cause the clinical manifestations of the disease.
Aspirin can be used as a conservative therapy - it reduces the risk of blood clots and makes the blood thinner. For the treatment of thrombocythemia, patients may be prescribed interferon and drugs from the group of phosphodiesterase inhibitors, which can disrupt the process of platelet maturation.
If the disease is difficult to treat with traditional methods (the amount of blood to be removed by phlebotomy is too large, or thrombocythemia occurs), chemotherapy may be prescribed. As a chemotherapy drug, Hydroxyurea is used. It has cytostatic properties and capable of suppressing the activity of enzymes involved in DNA synthesis.
In some cases, targeted drugs from the group of epidermal growth factor inhibitors and a specific enzyme called JAK2 may be prescribed. The medicines of the latter group can be used in the absence of a positive effect from the use of Hydroxyurea.
Bone marrow transplantation is rarely performed and is prescribed when the patient's condition is very serious and the disease cannot be controlled by classical methods.
Diagnosis of the disease
The preliminary diagnosis can be made based on the general blood test. Usually, the disease is diagnosed by accident during a routine health exam.
To clarify the diagnosis, the following diagnostic methods are used:
- Physical examination.
- Study of hemoglobin level and calculation of hematocrit number.
- Determination of the concentration of erythrocytes, platelets and leukocytes.
- Determination of ESR.
- Genetic tests for a specific JAK2 mutation.
- Ultrasound of the spleen (a characteristic symptom of erythremia – splenomegaly, i.e. enlargement).
