Polycythemia run in families. In some of

Polycythemia Vera

Description
Causes
Symptoms
Treatment
Material
Sources

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Desription of Polycythemia Vera

Polycythemia vera (pol-e-sy-THEE-me-uh VEER-uh) is a slow-growing
blood cancer in which bone marrow creates an excessive amount of red
blood cells (RBC). These excess cells thicken the blood, therefore
slowing the flow to parts of the body. These cell also lead to various
complications, such as blood clots, which can lead to a heart attack or
stroke.

Polycythemia vera is not a common circulatory system disese. The disease
usually develops in a slow manner and there is a chance than an
individual may have it for years without even knowing. The condition is
often discovered when an individual gets a blood test for another
reason.

Without proper treatment, polycythemia vera may be life-threatening, but
medical care can help ease signs, symptoms, and complications of the
disease, a primary cause of the life-threatening nature of polycythmia
vera. Over time, there are some cases wherein there exists a risk of
developing into more-serious blood cancers, such as myelofibrosis or
acute leukemia.

Causes of Polycytemia Vera

According to Genetics Home Reference: “Most cases of polycythemia vera
are not inherited. This condition is associated with genetic changes
that are somatic, which means they are acquired during a person’s
lifetime and are present only in certain cells. In rare instances,
polycythemia vera has been found to run in families. In some of these
families, the risk of developing polycythemia vera appears to have an
autosomal dominant pattern of inheritance. Autosomal dominant
inheritance means that one copy of an altered gene in each cell is
sufficient to increase the risk of developing polycythemia vera,
although the cause of this condition in familial cases is unknown. In
these families, people seem to inherit an increased risk of polycythemia
vera, not the disease itself.”

Polycythemia vera is a constituent of a group of blood cancers known as
myeloproliferative neoplasms. The disease occurs when a mutation in a
gene presents a problem with red blood cell production. In normal cases,
the body has a regulation mechanism for the number of each of the three
types of blood cells a person possesses — red blood cells, white
blood cells and platelets. In the case of polycythemia vera, the bone
marrow generates an excess of some blood cells, most especilaly red
blood cells.

Mutation that causes polycythemia vera is thought to affect a protein
switch that serves as the stimulus to signal the blood cells to grow.
Spefically, it is a mutation in the protein Janus kinase 2, commonly
reffered to as JAK2.

Symptoms of Polycythemia Vera

Symptoms of Polycythemia Vera

Headache
Weakness

Fatigue
Fevers

Dizziness
Blurred vision

Shortness of breath
Excessive sweating

Unexplained weight loss
Bleeding or bruising, usually minor

Painful swelling of one joint, often the big toe
Numbness, tingling, burning or weakness in your hands, feet, arms or legs

Itchiness, especially following a warm bath or shower
A feeling of fullness or bloating in your left upper abdomen due to an enlarged spleen

Treatment of Polycythemia Vera

Tests for Polycythemia Vera

Red blood cell mass
Vitamin B12 level

Bone marrow biopsy
Serum uric acid

Erythropoietin level
Platelet aggregation test

Lactate dehydrogenase (LDH)
Leukocyte alkaline phosphatase

Comprehensive metabolic panel
Oxygen saturation of the blood

Genetic test for the JAK2V617F mutation
Complete blood count with differential

According to Medline Plus, the process of treatment is as follows:

The goal of treatment is to reduce the thickness of the blood and prevent bleeding and clotting problems.

A method called phlebotomy is used to decrease blood thickness. One unit
of blood (about 1 pint, or 1/2 liter) is removed each week until the
number of red blood cells drops. The treatment is continued as needed.

Medicines that may be used include:

1. Hydroxyurea to reduce the number of red blood cells made by the bone
marrow. This drug may be used when the numbers of other blood cell types
are also high.

2. Interferon to lower blood counts.

3. Anagrelide to lower platelet counts.

4. Ruxolitinib (Jakafi) to reduce the number of red blood cells and
reduce an enlarged spleen. This drug is prescribed when hydroxyurea and
other treatments have failed.

5. Taking aspirin to reduce the risk of blood clots may be an option for
some people. But, aspirin increases the risk of stomach bleeding.

6. Ultraviolet-B light therapy can reduce the severe itching some people experience.

Additional Resources

Citation of Sources

Circulatory system diseases | Health and medicine | Science. (n.d.).
Retrieved December 15, 2017, from
https://www.khanacademy.org/science/health-and-medicine/circulatory-system-diseases

Polycythemia vera. (n.d.). Retrieved December 15, 2017, from https://medlineplus.gov/ency/article/000589.htm

Polycythemia vera. (2017, February 08). Retrieved December 15, 2017,
from
https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850

Polycythemia vera – Genetics Home Reference. (n.d.). Retrieved
December 15, 2017, from
https://ghr.nlm.nih.gov/condition/polycythemia-vera

Polycythemia Vera Infographic | MPNRF. (n.d.). Retrieved December
15, 2017, from
http://www.mpnresearchfoundation.org/Polycythemia-Vera-Infographic

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