Polycythemia vera

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1. Overview


Polycythemia vera is a blood disorder in which bone marrow produces too many erythrocytes, platelets and leukocytes. Cell excess leads to thickening of blood cells which increases clotting risk, which can cause stroke, heart attack and other complications.

The exact cause of polycythemia is unknown, but it is assumed that the development of disease would be influenced by genetic alterations. Genetic polycythemia or polycythemia vera develops slowly and is especially common in older people, rarely manifesting in young children.

Although are the result of a genetic mutation or modification of genes, these genetic abnormalities are usually acquired during an individual’s life and is not transmitted, usually from parents to children. The condition is more common in adults over 60 years, and the incidence of disease is 1,200.000 people.


Contents

1. Overview
2. Symptoms
3. Causes
4. Risk factors
5. When to seek medical advice
6. Treatment
7. Complications


2. Symptoms

Polycythemia vera debuts with mild symptoms include flushing, dizziness and impaired senses. In more severe cases may occur including thrombosis (blood clotting), which leads to more severe manifestations.

In later stages of polycythemia will be present long term oxygen deprivation (as in chronic smokers or people who spend long periods at high altitudes) due to increased production of red blood cells and blood thickening. This form of polycythemia is remedied once the oxygen deprivation was treated.

All cases of polycythemia will see improvements by removing a quantity of blood periodically until the volume reduces the number of erythrocytes in blood (phlebotomy). Other option is taking medications to reduce the number of blood cells in the blood. However the disease cannot be treated.

Although polycythemia is quite rare and can be controlled, sometimes serious complications can occur. These include heart attack or stroke, if treatment is not administrated early. It will require emergency medical intervention for any symptoms that appear suddenly: weakness, confusion, vision problems or chest pain or if manifestations persist.

In its early stages, polycythemia vera produce no symptoms. However as the disease advances may occur:
- Headaches;
- Dizziness;
- Itching especially after bath or shower with hot water;
- Skin redness;
- Shortness of breath;
- Difficulty breathing when lying down;
- Numbness, tingling, burning or weakness in the hands, feet, arms;
- Feeling of fullness or bloating in the left upper abdomen due to enlarged spleen;
- Fatigue.


3. Causes

Polycythemia vera develops when a mutation of a cell from bone marrow causes problems in the production of blood cells. Normally, the body carefully regulates the number of the three existing blood cell types. However, in polycythemia vera, the mechanism used by the body to control blood cell production is impaired and the bone marrow produces too many blood cells.

Mutation that causes polycythemia vera affects the protein with signaling role, which transmits cells to grow (JAK2 V617F mutation). Most people with polycythemia vera have this mutation.

During the studies for discover the treatment for this disease, doctors and researchers have not been able to fully establish the role of this mutation and its implications. The specialists consider the mutation occurs after conception, being acquired rather than inherited.


4. Risk factors

Factors that may increase the risk of developing polycythemia vera are:
- Age – chances of developing polycythemia vera increases with age and is more common in adults over the age of 60 years and rare in people under 20 years;
- Male – this disease affects especially men than women;
- Family medical history – having this disease in medical family history (especially relatives) increases the risk possibility to manifest disease.


5. When to seek medical advice

Any person should consult a physician when manifests any specific signs or symptoms of polycythemia vera. As the disease cause blood thickening and slows blood flow, increases the risk of developing blood clots.

If a blood clot reaches the blood vessels of the head, it can cause a stroke. It will require emergency care if any of signs or symptoms of a stroke are present. These include:
- Sudden onset of numbness, weakness, paralysis of the face, limbs – usually on one side of the body;
- Difficulty speaking or understanding of speech;
- Sudden dizziness, loss of balance or coordination;
- Sudden headache that may be severe or unusual and might be accompanied by stiff neck, facial pain, eyes pain, vomiting or altered consciousness;
- Confusion or impaired memory, spatial orientation or perception.


6. Treatment

Polycythemia should be treated by thinning the blood to prevent clots. This can be done by removing some blood from the body periodically, to reduce the number of red blood cells.

In some cases, medication with bone marrow suppression action may be administered in order to reduce the blood cells including hydroxyurea and interferon.

To prevent blood clots, you can use aspirin, but less frequently because there may be an increased risk of stomach bleeding.


7. Complications

Polycythemia vera progression is slow and most patients suffer no complications if the disease is treated, but there may be rare events, very serious including strokes and heart attacks.

In addition bone marrow dysfunction can lead to myelofibrosis (scarring of the bone marrow), or in rare cases, leukemia. These consequences can be life threatening and the patient should be treated immediately. The risk of serious complications can be minimized by following the regimen and medical indications.

Complications of polycythemia vera include:
- Blood clots (thrombosis);
- Enlarged spleen (splenomegaly);
- Gastrointestinal bleeding;
- Gout;
- Heart failure;
- Leukemia;
- Myelofibrosis;
- Peptic ulcer.

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