Polyglobulia: diagnosis, treatment and life expectancy

Diagnosis of polyglobule

Blood tests determine the number of:

• red blood cells,
• white blood cells,
• Platelet.

A distinction is made between a high number of erythrocytes, a high hematocrit, high hemoglobin levels and low erythropoietin hormone levels.

The diagnosis of polyglobule is an exclusion diagnosis.

First, it is necessary to look for the cause of the increased hematocrit.

In the anamnesis it is necessary to exclude:

• diseases of the respiratory system and heart,
• Smoke
• living at high altitudes,
• Secondary signs of neoplastic syndrome (weight loss, fever).

During the physical examination, the liver and spleen must be checked, because the patient may have an enlargement of the liver or spleen.

Laboratory tests, recommended by the doctor:

1. Blood gas analysis: oxygen saturation, oxygen partial pressure in the blood (PO2), carboxyhemoglobin,
2. EPO (decreased in patients with polyglobulia, but increased if polyglobulia is secondary),
3. Ferritin
4. Dosage of vitamin B12 (increased in polyglobulia)
5. Studies of renal function, transaminases, uremia.

Instrumental examination of polyglobulia

• chest X-ray to look for changes in the lungs and heart (as in heart failure),
• spirometry to assess lung function,
• Ultrasound of the abdomen to assess the size of the spleen and to look for kidney cysts.

Genetic tests

To search for a Jak2 gene mutation, a venous blood sample is used, in some cases the doctor also provides a bone marrow biopsy.

Bone marrow biopsy shows:

• A change in bone marrow elements,
• large and deformed megakaryocytes,
• In some cases, fibrosis.

Diagnostic criteria for the diagnosis of polyglobulia according to the World Health Organization (WHO)

2016 update

Main

1. haemoglobin greater than 16.5 g/l in men and 16 g/l in women, or haematocrit greater than 49 % in men and 48 % in women, or increase in red blood cell mass (at least 125 % of normal).
2. Trilinear hyperplasia in bone marrow biopsy – this is an increase in blood cells produced by the bone marrow, especially the precursors of red and white blood cells, as well as platelets. In addition, the patient must have a strong proliferation of megakaryocytes, which are large and have a mature structure.
3. Presence of mutation of the gene JAK2V617F or exon 12

Minor criterion of EPO level less than normal.

For the diagnosis of polyglobule is required the presence of:

• All 3 main criteria,
• The first two main and minor criteria.

Therapy of polyglobules

Without therapy, death from cardiac or cerebral ischemia is the result.

In this case, the average life expectancy is 18 months.

Principles of treatment:

• reducing the risk of thrombosis,
• minimizing the risk of developing acute myeloid leukemia,
• Treatment of complications: thrombosis, bleeding and itching.

The preferred therapies that the doctor recommends are:

• bloodletting to keep the haematocrit < 45%,
• Aspirin, usually the doctor recommends 100 mg per day.

The treatment of polycythemia vera is based on bloodletting.

A few centiliters of blood are drained from the vein to reduce the cell count and volume of the blood.

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 the hematocrit under the following conditions:

• 45 % in men,
• 42% in women.

Phlebotomy usually involves taking 450 ml of blood per day until the hematocrit drops below 40%.

Source: Tarek Bou Assi et al. – (Department of Pathology and Laboratory Medicine, American University of Beirut Medical Centre, Beirut, Lebanon)

Subsequently, the therapy is repeated depending on the hematocrit value, usually every 2 months, but this depends on the person’s nutritional level.

Cytoreduction should be considered if:

1. the patient has reduced tolerance to repeated bloodletting,
2. A symptomatic and / or progressive splenomegaly is present,
3. The disease clearly develops (weight loss, night sweats, etc.),
4. thrombocytosis exists.

Cytoreduction is necessary:

1. If the patient is older than 40 years, the drug of choice is hydroxyurea (Onco Carbide®),
2. If the patient is under 40 years old, the doctor prescribes interferon.

Cytoreductive therapy

There are drugs called alkylating agents that are used when the first-line therapy has been inadequate:

1. busulfan,
2. Chlorambucil.

Phosphorus-32 (32P) is an effective but little-used radioactive substance.

These drugs were mostly abandoned because:

1. The risk of acute leukemia,
2. Side effects.

The most commonly used cytoreductive therapy consists of:

1. interferon-a, controls erythrocytosis and thrombocytosis,
2. Anagrelide, is specific for platelet count.

Natural remedies for polyglobulia

Home remedies include:

1. Drink enough to avoid drying out,
2. Light physical exercise,
3. avoid contact sports (especially with enlarged spleen),
4. Avoid iron-rich foods such as red meat.

Diet is important to reduce cardiovascular risk.

Some foods promote plaque and calcification in the arteries.

According to the blood group diet, cereals are the main cause of fat accumulation in the body.

Other foods to avoid include:

• milk and dairy products (yoghurt, cheese, etc.),
• Stimulating drinks such as coffee and tea,
• Pork and sausages.

Some foods are harmful to people with a certain blood type and should therefore be avoided.

What is the life expectancy? Prognosis for patients with polyglobulism

Life expectancy with primary polyglobulia (without treatment) is short, about 1.5 years. The prognosis improves under therapy to 10-15 years.

Life expectancy in secondary polycythemia depends on the cause.

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