Symptoms of polycythemia

The symptoms of polycythemia are caused by an abnormal proliferation of blood cells, especially red blood cells (erythrocytes).

Polycythemia is a myeloproliferative disease that also leads to the proliferation of platelets (platelets) and white blood cells.

The erythrocytes are formed in excessive numbers, which leads to too high blood density.
Polycythemia mainly affects adults and the elderly, but rarely occurs in children, newborns and adolescents.
Men are twice as likely as women to suffer from this condition.


Types of polycythemia

Primary or idiopathic

In primary polycythemia, there are abnormalities in the production of red blood cells. The two main diseases belonging to this category are polycythemia vera (PV) and familial or congenital primary polycythemia.

Causes of primary polycythemia

  • Polycythemia vera (or rubra) is linked to a genetic mutation of the gene JAK2, which increases the sensitivity of the bone marrow to erythropoietin.
    With this pathology, the number of other blood cells (white blood cells and platelets) is also increased.
    In the elderly, polycythemia vera can develop into acute leukemia or myelofibrosis.
  • Benign familial or congenital polycythemia is a condition associated with the mutation of the EPOR gene that leads to an increase in red blood cells in response to EPO (erythropoietin).

Secondary polycythemia

In secondary polycythemia, the red blood cells are produced due to the lack of oxygen in the blood.

Causes of secondary polycythemia

Some conditions that cause high erythropoietin levels include:

  1. Chronic obstructive pulmonary disease (COPD, emphysema, chronic bronchitis),
  2. pulmonary hypertension,
  3. hypoventilation syndrome,
  4. decompensated heart failure,
  5. Sleep apnea
  6. In rare cases, kidney obstruction or kidney cysts can cause the production of a greater amount of erythropoietin.
  7. A rare hereditary disease (Chuvashine polycythemia) leads to an increase in the activity of the gene that produces erythropoietin.
    Overproduction of erythropoietin causes polycythemia.
  8. lack of blood supply to the kidneys,
  9. Living at high altitude.

deficit of 2,3-BPG affects a condition in which the hemoglobin present in the red blood cells has an abnormal structure.
In this disease, hemoglobin binds oxygen more easily and releases it less easily to tissues.
This event is “fixed” by increasing the red blood cell count.
The tissues receive insufficient oxygen content.

Some serious tumors produce a high amount of EPO. Tumors that cause this disorder include:

  • malignant liver tumor (hepatocellular carcinoma),
  • malignant kidney tumor (renal cell carcinoma),
  • adrenal adenoma,
  • Adenocarcinoma
  • Cervical cancer.

There are benign diseases that lead to an increase in EPO.
Constant contact with carbon monoxide can cause polycythemia. Hemoglobin has a higher affinity for carbon dioxide than for oxygen. When carbon monoxide molecules bind to hemoglobin, polycythemia occurs to compensate for the deoxygenated blood.

Cigarette smoke causes a similar situation with carbon dioxide.

Relative or pseudopolycythemia
Relative polycythemia is caused by a reduction in blood circulating in the body.

Relative polycythemia can occur with:

  1. insufficient drinking,
  2. loss of body fluid, such as vomiting, diarrhea or profuse sweating,
  3. Smoking, alcohol, high blood pressure and obesity.

The result is too high a concentration of red blood cells in relation to the circulating blood volume.

Stress-related polycythemia
This condition is diagnosed in middle-aged men. A state of anxiety or a period of stress at work causes an increase in erythrocytes.
Other names of this pathology are pseudo-polycythemia, stress erythrocytosis or Gaisböck’s syndrome.

Polycythemia in newborns (perinatal polycythemia) is caused by the transfer of maternal blood from the placenta.
Long-term oxygen depletion (hypoxia) of the fetus during pregnancy (intrauterine hypoxia) causes perinatal polycythemia.

Symptoms of polycythemia

Initially, signs and symptoms of polycythemia vera are not observed because it is only a mild disorder.
The patient feels the first symptoms only when the blood thickens significantly.
Blood flow decreases due to the greater viscosity and lack of oxygen in many areas of the body.
Symptoms appear gradually, the disease develops within years.
Hypoxia (lack of oxygen in the blood) slows down the work of organs and tissues and the first symptoms are observed, which include:

  • Headache
  • Weakness
  • Splenomegaly
  • Diplopia
  • peripheral vision loss,
  • redness on the face,
  • Itch
  • sensation of burning sensation on the skin on hands and feet,
  • bleeding gums,
  • Nosebleed
  • Weight loss
  • Fatigue
  • tinnitus and ringing in the ears,
  • Shortness of breath
  • Vertigo
  • formation of ecchymoses or hematomas,

Complications of polycythemia

Patients develop many complications such as the formation of arterial blood clots. These slow down blood flow and increase the risk of pulmonary embolism, stroke and infarction. The spleen filters the dead red blood cells out of the blood. An increase in erythrocytes causes an enlargement of the spleen (splenomegaly). The skin becomes sensitive and you feel itching, burning or tingling on the arms, legs, hands and feet. Polycythemia increases the risk of developing a stomach ulcer or duodenal ulcer, as well as gout.

Diagnosis of polycythemia

After a complete blood count, polycythemia vera is diagnosed. In the blood test, the number of red and white blood cells and platelets is determined. There is an increased number of erythrocytes, high hematocrit, high hemoglobin levels and decreased levels of the hormone erythropoietin.

Treatment of polycythemia

The treatment of polycythemia vera is based on bloodletting.

A few centiliters of blood are taken from a vein to reduce the number of red blood cells and blood volume. The decision to use bloodletting depends on the severity of the disease.

The cornerstone of polycythemia therapy is bloodletting (or cupping).
The aim of this therapy is to maintain hematocrit in 45% in men and 42% in women. You can do bloodletting every 2-3 days, taking 250 to 500 ml of blood each time. Once the correct cell level is reached, bloodletting can be performed less frequently.

Medications can also help treat polycythemia. The doctor may prescribe hydroxyurea or anagrelide (Xagrid®), which reduces the production of platelets. Some patients are given aspirin to prevent burning in the feet and to prevent blood clots from forming. In the case of a tumor, chemotherapy may be advisable to kill the cancer cells in the body.

Natural remedies

Home remedies are:

  1. drink a lot,
  2. light physical activity,
  3. avoid contact sports (especially with enlarged spleen),
  4. Avoid iron-rich foods such as short-fried red meat.

Diet and nutrition have no effect on symptoms.

What is the life expectancy? Prognosis

Life expectancy in primary polycythemia (without therapy) is short and is about 1.5 years. The prognosis improves by 10-15 years if only bloodletting is used.
Life expectancy in secondary polycythemia depends on the cause.

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