Erythremia (True Polycythemia, Erythrocytosis, Wakez Disease)

What is Erythremia (True Polycythemia, Erythrocytosis, Wakez Disease)?

Erythremia is a chronic disease of the human blood-forming system with a predominant violation of erythropoiesis, an increase in the content of hemoglobin and red blood cells. Usually the disease appears between the ages of 40 and 60 years, most often erythremia occurs in men. Children rarely get sick; in the family history of other cases of the disease is not noted.

Causes of Erythremia (True Polycythemia, Erythrocytosis, Wakez Disease)

Recently, based on epidemiological observations, assumptions have been put forward on the relationship of the disease with stem cell transformation. There is a JAK 2 tyrosine kinase mutation (Janus kinase), where at position 617 the valine is replaced by phenylalanine. However, this mutation also occurs in other hematological diseases, but with polycythemia most often.

Symptoms of Erythremia (True Polycythemia, Erythrocytosis, Wakez Disease)

In the early stages of the disease, symptoms are usually absent. However, as the changes in the blood supply system increase, patients complain of a vague feeling of fullness in the head, headaches, and dizziness. Other symptoms appear depending on which body systems are affected. Paradoxically, hemorrhage can be a complication of erythremia.

The expanded stage is characterized by more vivid clinical symptoms. The most common and characteristic sign are headaches, which are sometimes in the nature of painful migraines with visual impairment.

Many patients complain of pain in the heart, sometimes according to the type of angina pectoris, bone pain, in the epigastric region, weight loss, impaired vision and hearing, unstable mood, lacrimation. A common symptom of erythremia is pruritus. There may be paroxysmal pains at the tips of the fingers and toes. Pain in this case is accompanied by redness of the skin.

On examination, a special red-cyanotic skin color with a predominance of dark cherry tone is noteworthy. Redness of the mucous membranes (conjunctiva, tongue, soft palate) is also noted. In connection with frequent limb thrombosis, darkening of the skin of the legs, sometimes trophic ulcers, is observed. Many patients complain of bleeding gums, bleeding after tooth extraction, and bruising on the skin. In 80% of patients, an increase in the spleen is noted: in the expanded stage, it is increased moderately, in the terminal stage, pronounced splenomegaly is often observed. Usually enlarged liver. Often in patients with erythremia, an increase in blood pressure is detected. As a result of malnutrition of the mucous membrane and vascular thrombosis, ulcers of the duodenum and stomach can occur. An important place in the clinical picture of the disease is occupied by vascular thrombosis. Thrombosis of the cerebral and coronary arteries, as well as the vessels of the lower extremities, is usually observed. Along with thrombosis, patients with erythremia are prone to the development of hemorrhages.

In the terminal stage, the clinical picture is determined by the outcome of the disease – cirrhosis of the liver, coronary thrombosis, a softening focus in the brain due to cerebral thrombosis and hemorrhage, myelofibrosis, accompanied by anemia, chronic myelogenous leukemia and acute leukemia.

The prognosis depends on the age of the patient at the time of diagnosis, treatment and complications. Mortality is high in the absence of treatment and in cases where erythremia is combined with leukemia and other cancers.

Diagnosis of Erythremia (True Polycythemia, Erythrocytosis, Wakez Disease)

Of great importance in the diagnosis of true polycythemia is the assessment of clinical, hematological and biochemical parameters of the disease. The characteristic appearance of the patient (specific coloration of the skin and mucous membranes). An increase in the spleen, liver, tendency to thrombosis. Change in blood counts: hematocrit, the number of red blood cells, white blood cells, platelets. An increase in the mass of circulating blood, an increase in its viscosity, low ESR, an increase in the content of alkaline phosphatase, leukocytes, and serum vitamin B12. It is necessary to exclude diseases where there is hypoxia and inadequate treatment with vitamin B12.
To clarify the diagnosis, trepanobiopsy and histological examination of the bone marrow are necessary.

To confirm true polycythemia, the following indicators are most often used:

  1. An increase in the mass of circulating red blood cells:
    – for men – 36 ml / kg,
    – for women – more than 32 ml / kg
  2. Increased hematocrit> 52% in men and> 47% in women, increased hemoglobin> 185 g / l in men and> 165 g / l in women
  3. Saturation of arterial blood with oxygen (more than 92%)
  4. Enlarged spleen – splenomegaly
  5. Weight loss
  6. Weakness
  7. Sweating
  8. Lack of secondary red blood cells
  9. The presence of genetic abnormalities in bone marrow cells, in addition to the presence of the Philadelphia chromosome chromosome translocation or with the rearranged BCR ABL gene
  10. Colony formation by erythroid cells in vivo
  11. Leukocytosis of more than 12.0 × 109 l (in the absence of a temperature reaction, infections and intoxications)
  12. Thrombocytosis over 400.0 × 109 per liter
  13. An increase in the content of alkaline phosphatase of neutrophilic granulocytes is more than 100 units.(in the absence of infections)
  14. The level of serum vitamin B12 – more than 2200 ng
  15. Low erythropoietin
  16. Bone marrow puncture and histological examination of punctate obtained using trepanobiopsy show an increase in megakaryocytes

Treatment of Erythremia (True Polycythemia, Erythrocytosis, Wakez Disease)

Phlebotomy (bloodletting treatment) can quickly reduce the red blood cell count. The frequency and volume of bloodletting depend on the severity of erythremia. After a series of such procedures, the body does not have enough iron, which stabilizes the production of red blood cells and reduces the need for bloodletting.

In the expanded stage of erythremia, cytostatic therapy is indicated. The most effective cytostatic drug in the treatment of erythremia is imiphos. The drug is administered intramuscularly or intravenously at a dose of 50 mg daily for the first 3 days, and then every other day. The course of treatment is 400-600 mg. The effect of imiphos is determined after 1.5-2 months, since the drug acts at the level of the bone marrow. In some cases, the development of anemia is observed, which usually gradually disappears on its own. With an overdose of imiphos, hematopoietic hypoplasia may occur, for the treatment of which prednisolone, nerobol, vitamin B6 and B12, as well as blood transfusion, are used. The average duration of remission is 2 years; maintenance therapy is not required. With a relapse of the disease, sensitivity to imiphos remains. With increasing leukocytosis, rapid growth of the spleen, myelobromol 250 mg is prescribed for 15-20 days. Less effective in treating myelosan erythremia. As symptomatic agents for the treatment of erythremia, anticoagulants, antihypertensive drugs, and aspirin are used.

In severe cases, treatment methods that inhibit bone marrow activity are used. Previously, they used radioactive phosphorus or anti-cancer drugs, which sometimes led to the development of leukemia.