Erythremia: Symptoms and Treatment

Erythremia is a persistent progressive increase in the concentration of red blood cells (erythrocytes) in the bloodstream due to a malfunction in the regulation of blood formation. In the medical literature, this condition is also called Vaquez-Osler disease, a true polycythemia. This disease of the blood is related to neoplasm.



It should be noted that in 2/3 of the cases simultaneously with the increase in the level of erythrocytes, platelets and white blood cells also increase. Clinicians consider erythremia a benign disease, but its prognosis is conditionally favorable. A patient with such a diagnosis can live long enough (with full treatment). Lethal outcome usually occurs due to the progression of various complications.

This blood disease is usually diagnosed in old age, but recently it is sometimes detected in people of working age. Representatives of the stronger sex suffer from it more often than women. Erytremia is a rare disease. In general, doctors diagnose it annually among 5 people out of 100 million.

Etiology

The exact causes of the progression of erythremia have not yet been established by scientists. But there are several predisposing factors that significantly increase the risk of progression of this disease:


  • genetic predisposition. Various mutations at the gene level can cause the progression of erythremia. This fact is proved, since this blood disease is more often diagnosed in persons suffering from certain genetic ailments. These include: Down’s syndrome, Marfan’s syndrome, Klinefelter’s syndrome,
  • ionizing radiation. It can also be the cause of the development of erythremia, because the rays, penetrating the human body, cause damage at the gene level. As a consequence, certain cells may die or start mutating DNA;
  • toxic substances. Such substances, penetrating the human body, can cause a mutation at the genetic level. They are called mutagens. These include: azathioprine, benzene, chloramphenicol, cyclophosphamide.

Views

According to the ICD-10, this blood disease belongs to the leukemia group. Clinicians distinguish two forms of ailment:


  1. acute, also referred to as erythroleukemia
  2. Chronic.

Depending on the progression of blood pathology:


  • True. There is a persistent increase in the concentration of red blood cells. This form is extremely rare in young children
  • relative or false. The peculiarity of this form is that the level of erythrocyte mass is normal, but the volume of plasma gradually decreases (due to the loss of the body’s fluid).

Depending on the pathogenesis, the true polycythemia is divided into:


  1. Primary
  2. secondary.

Stages

It is worth noting that at first the erythremia absolutely does not manifest itself in any way. The general state of the body does not suffer, as well as the blood system. In the absence of clinical signs, a person does not even suspect that this dangerous disease is progressing.

Clinicians in the progression of erythremia mark three stages:


  • Initial;
  • Eritrea
  • anemic.

Initial

It can last from a couple of months to several decades, and there will be no symptoms at all. In the blood there is a moderate increase in the concentration of red blood cells — from 5 to 7×10¹² per 1 liter of blood. The level of hemoglobin also increases.

Erythremic

The level of red blood cells is constantly growing. Because of certain mutations, the tumor cell begins to differentiate into leukocytes and platelets. As a result of such a pathological process, the volume of blood increases — the vessels and organs overflow. The blood itself also changes. It becomes viscous and the speed of its passage through the vessels is greatly reduced. Thrombocytes are activated — they are linked together and form specific plugs that block the clearance of small calibers. As a consequence, some parts of the body are not sufficiently supplied with oxygen and nutrients that carry blood.

It is also worth noting that, as the concentration of cells in the blood increases, they are strongly destroyed in the spleen. This is also dangerous, because the blood begins to actively enter the products of their decay.

Anemic

It is characterized by the development of the process of fibrosis in the bone marrow — cells that take an active part in the production of blood cells are gradually replaced by fibrous tissue. As a result, the hematopoietic function gradually fades and the level of leukocytes, platelets and erythrocytes in the bloodstream decreases. In the spleen and liver, extramedullary foci of hematopoiesis are formed. This is a kind of compensatory reaction, the main purpose of which is to normalize the concentration of blood cells.




This stage is the most dangerous, since its main symptom is prolonged bleeding (up to several hours). They carry a serious threat to human life.

Symptoms

Symptoms of erythremia directly depend on the stage of the disease. But it is also worth noting that some signs may appear at an early stage and not disappear until anemic.

Symptoms of the initial stage:


  1. Hyperemia of the skin and mucous membranes. It is observed because of the increased concentration of red blood cells in the bloodstream. Hyperemia affects absolutely all areas of the body. Hyperemia can be poorly expressed, so the skin will not be red, but slightly pink. Many people take this shade as the norm and do not associate it with the progression of any disease;
  2. Pain in the fingers. This symptom is manifested as a result of disruption of normal circulation of blood in small-caliber vessels
  3. headache. This symptom is not specific, but often manifests itself in the initial stage of erythremia.

Symptoms of the erythremic stage:


  • hepatomegaly;
  • splenomegaly
  • increased skin and mucosal congestion
  • blood pressure increase
  • erythromelalgia
  • pain in articular joints
  • skin itching
  • Finger necrosis
  • myocardial infarction
  • ulcers form on the digestive tract;
  • thrombotic strokes;
  • dilated cardiomyopathy
  • symptoms of iron deficiency: indigestion, delamination of the nail plates, dry skin, decreased appetite, the appearance of painful cracks in the corners of the mouth, etc.

The third stage begins to progress due to the fact that the person did not undergo the necessary treatment in the first and second stages. If the terminal stage has developed, the prognosis is unfavorable — it can result in a fatal outcome. The patient has such symptoms:


  1. severe anemia. The person pale skin, there is a general weakness, there is a feeling of lack of air. He can faint;
  2. bleeding. They can manifest themselves spontaneously or even with minor traumatization of the skin, joint articulations or muscle structures. They represent a special danger for the life of the patient, since they can last several hours.

Diagnostics

A narrow specialist, a hematologist, deals with the diagnosis and treatment of this blood disease. For accurate diagnosis, he resorts to laboratory and instrumental diagnostic techniques.

The standard diagnostic plan includes:


  • clinical and biochemical blood test. The most important methods of diagnosis, because they provide an opportunity to assess the level of red blood cells in the bloodstream;
  • bone marrow puncture
  • laboratory markers (specific diagnostic method)
  • ultrasound of organs localized in the abdominal cavity
  • Doppler.

Treatment

Treatment should begin immediately, as the diagnosis was accurately confirmed to prevent the development of dangerous complications. In the case of timely and full treatment, the outlook will be favorable. The main goals of therapy:


  1. normalization of the speed of circulation of blood
  2. Elimination of the underlying ailment
  3. Elimination of unpleasant symptoms
  4. reduction in hematocrit and hemoglobin
  5. Restoring the normal level of iron.

Medication:


  • myelobromol
  • Hydroxyurea
  • Aspirin;
  • quarantil;
  • heparin
  • maltofer;
  • Ferrum Lek
  • allopurinol;
  • anthuran

To reduce hemoglobin, they resort to erythrocytapheresis and bloodletting.

Symptomatic therapy:


  1. antihistamines;
  2. Antihypertensive drugs
  3. cardiac glycosides;
  4. gastroprotectors.

In order to correct anemia, doctors resort to blood transfusion. In order to correct the destruction of blood cells in the spleen, the organ is extracted (in case of ineffectiveness of conservative treatment methods).

If necessary, the patient is referred for consultation to a narrow specialist, such as an oncologist, a rheumatologist, a neurologist, a gastroenterologist.




Treatment of pathology is carried out only in a hospital setting so that doctors can constantly monitor the general condition of the patient. If necessary, the treatment plan is adjusted. Since the disease is benign, with a full and timely therapy, a person can live a very long time. But if treatment is absent, then the course of erythremia ends in a lethal outcome.