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Polycythaemia (erythrocytosis, polyglobulia (High concentration of RBC's in the blood)) : Symptoms, Causes, Diagnosis and Treatment

What is Polycythaemia?

Red blood cells carry oxygen to all parts of your body. They also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.

Red blood cells are made in your bone marrow?a sponge-like tissue inside the bones. White blood cells and platelets (PLATE-lets) also are made in your bone marrow. White blood cells help fight infection. Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding.

If you have PV, your bone marrow makes too many red blood cells. It also can make too many white blood cells and platelets.

A mutation, or change, in the body's JAK2 gene is the major cause of PV. This gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't inherited?that is, passed from parents to children through genes.

PV develops slowly and may not cause symptoms for years. The disease often is found during routine blood tests done for other reasons.

When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally.

For example, slower blood flow deprives your arms, legs, lungs, and eyes of the oxygen they need. This can cause headaches, dizziness, itching, and vision problems, such as blurred or double vision.

Polycythaemia is also known as erythrocytosis, polyglobulia (High concentration of RBC's in the blood). Polycythaemia belongs under the category of Blood disease. Primary polycythemia, Apparent polycythaemia, Relative polycythaemia, Absolute polycythaemia, Polycythaemia vera (PV) and Secondary polycythemia are some common types of Polycythaemia. Generally Male and Female above 60 yrs. are the victim of the Polycythaemia. Seriousness of this disease is Serious.

Symptoms of Polycythaemia are :

  • itchy skin
  • Itchy skin, also known as pruritus, is an irritating and uncontrollable sensation that makes you want to scratch to relieve the feeling. The possible causes for itchiness include internal illnesses and skin conditions.

  • Joint swelling
  • high blood pressure 
  • High blood pressure is a common condition in which the long-term force of the blood against your artery walls is high enough that it may eventually cause health problems, such as heart disease.

  • red skin on feet
  • red skin on hand
  • red skin on face
  • upset stomach
  • Dizziness
  • Joint Stiffnes
  • Abnormal bleeding in gums nose and cuts
  • Delirium and confusion
  • Fatigue/weakness
  • Weakness

    Weakness is when strength is decreased and extra effort is needed to move a certain part of the body or the entire body. Weakness is due to loss of muscle strength. Weakness can be a big part of why cancer patients feel fatigue.


    Fatigue is an extreme feeling of tiredness or lack of energy, often described as being exhausted. Fatigue is something that lasts even when a person seems to be getting enough sleep. It can have many causes, including working too much, having disturbed sleep, stress and worry, not having enough physical activity, and going through an illness and its treatment.

  • Severe joint and muscle pain
  • Joints are the parts of your body where your bones meet. Joints allow the bones of your skeleton to move. Joints include:

    • shoulders
    • hips
    • elbows
    • knees

    Joint pain refers to discomfort, aches, and soreness in any of the body?s joints. Joint pain is a common complaint. It doesn?t typically require a hospital visit.

    Sometimes, joint pain is the result of an illness or injury. Arthritis is also a common cause of joint pain. However, it can also be due to other conditions or factors.

  • Severe Headache
  • Headaches are a common health problem ? most people experience them at some time.

    Factors that lead to headaches may be:

    Frequent or severe headaches can affect a person?s quality of life. Knowing how to recognize the cause of a headache can help a person take appropriate action.


    Polycythaemia can be caused due to:

    There are two types of polycythemia, which have different causes.

    Primary polycythemia

    Primary polycythemia is also called polycythemia vera (PV).

    PV is a rare, slow growing blood cancer that is a type of condition known as a myeloproliferative neoplasm. PV causes the bone marrow to create excess precursor blood cells that develop and function abnormally, leading to the production of too many red blood cells.

    A person with PV may also have increased numbers of other blood cells, such as white blood cells or platelets.

    Secondary polycythemia

    Secondary polycythemia can occur if the increase in red blood cells is not due to the myeloproliferative disease of PV.

    The overproduction of blood cells in secondary polycythemia is limited to the red blood cells.

    Causes of secondary polycythemia include:

    • being at a very high altitude
    • obstructive sleep apnea
    • certain types of tumor
    • heart or lung disease that causes a low oxygen level in the body

    Treatment for the Polycythaemia


    If doctors suspect that a person has polycythemia, they will order several tests to help identify the underlying issue.

    Blood tests

    Blood tests, such as a complete blood count, will reveal any increase in red blood cells in the bloodstream, as well as any abnormal levels of platelets and white blood cells. If PV seems possible, a doctor will order more specific blood tests. You may have blood tests to diagnose PV. These tests include a complete blood count (CBC) and other tests, if necessary.

    Bone marrow biopsy

    If necessary, the doctor may also want to remove some bone marrow on which to perform tests in a lab.

    A bone marrow biopsy involves taking a small sample of the bone marrow with a needle for examination under a microscope. Bone marrow tests can show whether your bone marrow is healthy. These tests also show whether your bone marrow is making normal amounts of blood cells.

    Genetic tests

    Although genetic causes of PV are more rare, doctors may also want to analyze the person?s bone marrow for genetic mutations that have links to PV.

    They may also recommend examining cells in the blood for JAK2 mutation.


    There's no cure for polycythemia vera. Treatment focuses on reducing your risk of complications. These treatments may also ease your symptoms.

    Treatment to reduce symptoms might include:

    • Low-dose aspirin. Your doctor may recommend that you take a low dose of aspirin to reduce your risk of blood clots. Low-dose aspirin may also help reduce burning pain in your feet or hands.

    • Therapy to reduce itching. If you have bothersome itching, your doctor may prescribe medication, such as antihistamines, or recommend ultraviolet light treatment to relieve your discomfort.

      Medications that are normally used to treat depression, called selective serotonin reuptake inhibitors (SSRIs), helped relieve itching in clinical trials. Examples of SSRIs include paroxetine (Brisdelle, Paxil, Pexeva, others) or fluoxetine (Prozac, Sarafem, Selfemra, others).

    Treatments to reduce the amount of red blood cells include:

    • Reducing the amount of blood in your body. Drawing some blood out of your veins in a procedure called phlebotomy is usually the main treatment for people with polycythemia vera. This decreases your blood volume and reduces the number of excess blood cells. How often you need to have blood drawn depends on the severity of your condition.

    • Medication to decrease blood cells. If phlebotomy alone doesn't help, medications that suppress your bone marrow's ability to produce blood cells, such as hydroxyurea (Droxia, Hydrea), might be used.

      Interferon alfa-2b (Intron A) may be used to stimulate your immune system to fight the overproduction of red blood cells. It might help people who don't respond well to hydroxyurea.

    • Medication to destroy cancer cells. Ruxolitinib (Jakafi) is approved by the Food and Drug Administration to treat people with polycythemia vera who don't respond to or can't take hydroxyurea. It helps your immune system destroy cancer cells, and can improve some polycythemia vera symptoms.

      Busulfan (Busulfex, Myleran) is another medication that destroys cancer cells that may be prescribed if other treatments aren't working well.

    Possible complication with Polycythaemia

    Potential complications of polycythemia vera are increased levels of circulating red blood cells, which increase the thickness or viscosity of the blood. This can be associated with higher risk of thrombus or clot formation leading to strokes, heart attacks, pulmonary embolism, and possibly death.

    Another complication of polycythemia vera is the potential transformation into a blood cancer (leukemia), excessive bleeding (hemorrhage), or clotting problems.

    Because of high turnover of blood cells in polycythemia, the excretion of the byproducts of red blood cell degradation may overburden the kidneys and result in kidney dysfunction, kidney stones, and gout.

    Finally, there is the potential for myelofibrosis (spent marrow), in which scar tissue eventually takes over the blood-forming marrow elements, resulting in anemia from marrow failure.

    Complications of secondary polycythemia are typically related to those of the underlying disease. For example, chronic hypoxia from severe lung disease may be complicated by right-sided heart failure and pulmonary hypertension. Chronic heart failure can lead to generalized swelling or edema (anasarca), low blood pressure, kidney dysfunction, and poor functional status.

    In neonatal (infant) polycythemia, increased blood thickness or viscosity can affect several organs due to poor blood flow. As a result, kidney dysfunction, intestinal problems, increased blood pressure in the lungs, and hypoxia may ensue.

    Other possible complications with Polycythaemia are:

    • enlarged spleen
    • blood clots
    • angina
    • stroke
    • peptic ulcers
    • heart disease
    • gout
    • other blood disorders, such as myelofibrosis or leukemia


    1 https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/diagnosis-treatment/drc-20355855 2 https://www.nhs.uk/conditions/polycythaemia/ 3 https://www.medicalnewstoday.com/articles/polycythemia#diagnosis 4 https://www.webmd.com/cancer/polycythemia-vera-complications#1 5 https://www.nhlbi.nih.gov/health-topics/polycythemia-vera 6 https://www.medicinenet.com/polycythemia_high_red_blood_cell_count/article.htm 7 https://rarediseases.org/rare-diseases/polycythemia-vera/ 8 https://www.healthline.com/health/polycythemia-vera#causes-and-risk-factors 9 https://www.aoporphan.com/sk_en/rare-diseases/hematooncology/polycythemia-vera