Polycythemia Vera also known as (Primary Polycythemia) is a rare chronic condition characterised by overproduction and abnormal increase in the blood cell counts. Elevated blood cell count makes blood thicker than usual and more prone to clots and also causes a decrease in the flow.
This makes it harder to provide the oxygen needed to the organs, which leads to serious complications in the long run. Mostly diagnosed during routine blood tests, Polycythemia Vera is an insidious condition and can be life-threatening if left untreated. It can be managed by medical intervention and symptomatic treatment to assist the patient in leading a normal healthy lifestyle.
Polycythemia Vera Causes
Bone marrow is responsible for the synthesis of red blood cells, white blood cells and platelets. Overproduction of one or more types of these blood cells in the bone marrow causes Polycythemia Vera. Majority of the cases show an increase in red blood cell count but there can also be an increase in either white blood cells or platelets. This disorder is caused by JAK2 or TET2 gene mutation which affects bone marrow activity and causes abnormal proliferation of blood cells. In most of the cases the JAK2 gene is affected.
Polycythemia Vera Classification
Based on the causative factor, Polycythemia can be classified as: ·
Primary Polycythemia
Also known as Polycythemia Vera, it is caused due to JAK2 gene mutation. JAK2 gene synthesises the protein responsible for production of blood cells, and a mutation in this gene leads to protein dysfunction leading to abnormal proliferation. Various hereditary factors play a role in the gene mutation.
Secondary Polycythemia
Factors unrelated to gene mutation such as long-term oxygen deprivation, heart lung diseases, exposure to Carbon Mono-oxide, smoking, and certain tumours releasing EPO can also cause polycythemia.
Polycythemia Vera Signs and Symptoms
Signs and symptoms of Polycythemia Vera include:
- Fatigue, headache and dizziness ·
- Loss of weight
- Bleeding gums
- Itching, redness and burning sensation of the skin especially after warm baths
- Blurring of vision and blind spots
- Night sweats
- Enlarged spleen causing left side abdominal fullness and pressure
- Breathlessness
- Swelling in the joints
- Diplopia
- Epistaxis
- Bloating, fullness and pain in the upper abdomen
- Tingling and numbness in hands and feet
Polycythemia Vera Risk factors
Polycythemia Vera is caused by genetic mutation, which can be hereditary or can happen without a familial connection, and can lead to serious complications based on the tendency to form clots. Various factors that increase the risk of blood clots are:
- Medical history suggesting clotting disorders.
- Old age
- Hypertension
- Diabetes mellitus
- Increased cholesterol levels
- Pregnancy
Polycythemia Vera Complications
- Increased viscosity of the blood can lead to blood clots and decreased flow of the blood. Clots can predispose conditions like Angina, blockage in the circulation, and deep vein thrombosis.
- The spleen houses damaged blood cells, filters blood and fights infections. In patients with Polycythemia Vera, Splenomegaly can be seen as it has to work twice as hard due to increased count.
- Polycythemia Vera can cause other blood disorders such as scar tissue formation in the bone marrow and acute cases of leukaemia.
Polycythemia Vera Occurrence
- Polycythemia Vera affects men more than women. Women have the tendency to get the disorder at a younger age compared to men.
- Polycythemia Vera affects individuals of all ages but is seen in individuals over 60 years of age.
- Rarely seen in children and younger adults
Polycythemia Vera Diagnosis and tests
A detailed medical history and physical exam is required along with charting of symptoms. Polycythemia Vera is generally diagnosed over a routine blood test called the Complete Blood count that measures hematocrit ratio, glycosylated haemoglobin, number of red and white blood cells and platelets. For advanced testing a bone marrow biopsy is done to confirm. Most of the tests are routine lab tests and do not need overnight hospitalisation.
Below are the tests performed:
- Complete blood cell count
- Blood smear ·
- Erythropoietin levels ·
- Bone marrow biopsy ·
- Specific gene testing
In a patient with Polycythemia Vera, the following can be seen: ·
- Hematocrit > 52% in males and > 48% in females
- Haemoglobin >185 g/L in males and >125% in females than the normal value.
- Myeloproliferative disorder on bone biopsy ·
- Mutation of JAK2 gene.
- Decrease in Erythropoietin levels than normal.
Polycythemia Vera Treatment and care
Polycythemia Vera does not have a cure. The current treatment modalities are to decrease the risk of associated complications that arise with the disorder. Palliative care and symptom modulation is employed to maintain a normal lifestyle. Treatment includes managing symptoms and lifestyle changes. ·
Decreasing the blood volume by withdrawals
Timely blood withdrawals will decrease the volume of blood and prevent complications related to clots and circulation. ·
Relief Itching
To relieve the discomfort caused due to itching, medications such as Antihistamines and UV light treatment can be recommended. ·
Reduction in the number of cells
Certain medications such as Interferon alfa, Ruxolitinib, Busulfan can be prescribed to decrease the number of red blood cells. ·
Blood thinners
Polycythemia Vera increases complications related to the heart and predisposes to various issues. Low doses of Aspirin can help reduce platelet aggregation and reduce the burning sensation of the skin. ·
Lifestyle changes
With chronic conditions such as Polycythemia Vera, lifestyle changes are instrumental in maintaining the normal functioning of the body.
- Regular exercise and healthy diet – Moderate level of exercise will help with the blood flow and reduce the risk of clots and improve circulation. Healthy diet will keep heart ailments at bay.
- Smoking cessation and avoiding tobacco – Tobacco and smoking have a vasoconstrictor action that can increase the chances of blood clots.
- Avoid strenuous exercise and sports – High altitudes have lower levels of oxygen. Activities such as skiing and mountain climbing can cause an oxygen deficit; hence, patients should avoid them.
- Cold baths – Cold can relieve itching and discomfort. Use a mild cleanser and avoid hot tubs and showers.
- Avoid extreme environments – Sluggish blood flow can lead to poor adaptation to sudden temperature changes.
- Self-Inspection – Poor circulation can cause sores on the extremities. Timely inspecting for sores or any skin abnormalities is advised.
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