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Polycythemia: Causes, Symptoms, Risk Factors, Diagnosis, Treatment And Prevention
Polycythemia or polycythemia vera is a rare blood disorder (blood cancer) in which the red blood cells increase in the body causing the blood to thicken and flow slowly. Excess blood in the body results in blood clots in multiple body parts causing life-threatening complications like stroke (blood clot in the heart), deep vein thrombosis (blood clot in arms and legs) and pulmonary embolism (blood clot in the lungs).
Like diabetes, polycythemia is also a chronic condition which cannot be treated but managed throughout life. Without treatment, it can progress to most serious conditions like acute leukaemia or myelofibrosis. Also, this rare blood cancer is likely to occur more in men than in women and develops mostly during the old age. [1]
Polycythemia is generally reported in terms of hematocrit and haemoglobin concentration. When the hematocrit is greater than 52% in men and 48% in women, a person has polycythemia. On the other hand, when the haemoglobin level exceeds 16.5g/dL in women and 18.5 g/dL in men, the condition prevails in a person.
Types Of Polycythemia
Polycythemia is a type of myeloproliferative neoplasms, a blood cancer characterised by the excess production of platelets or red or white blood cells. There are basically two causes of this blood cancer called primary and secondary polycythemia. [2]
- Primary polycythemia: It occurs due to acquired or inherited genetic mutation that caused the bone marrow to increase the production of red blood cells (RBC) in the body.
- Secondary polycythemia: It occurs due to some physiological changes which increased the oxygen demand by the body like lung disease, high altitude and severe obesity. It also occurs due to the increased levels of an RBC-stimulating hormone called erythropoietin.
Causes Of Polycythemia
A gene named JAK2 is responsible to provide instruction to the bone marrow to produce red blood cells when needed. Because of mutations in the gene due to some unknown factors, the gene remains turned on and continuously sends the instruction to make new RBCs which results in excess of it thus, causing the thickening of the blood. When the blood gets thickens, it starts moving slowly inside the blood vessels resulting in serious blood clots in different body parts, even death in some cases. [3]
Symptoms Of Polycythemia
The signs of polycythemia are very common. They are as follows:
- Joint pain
- Headache
- Itching after the bath [4]
- Tender redness of the soles and palms [5]
- Chronic cough
- Shortness of breath
- Fatigue
- Sleep apnea [6]
- Weight loss
Risk Factors Of Polycythemia
Some of the risk factors for developing polycythemia are as follows:
- Family history
- Age (above 60)
- Smoking [7]
- Diabetes
- Obesity
- Pregnancy
- Chronic carbon monoxide exposure
- Low oxygen levels in high altitudes
Complications Of Polycythemia
Some of the possible complications of polycythemia are as follows:
- Enlarged spleen: Due to high levels of RBC, the spleen becomes inefficient in its functionality as it is responsible for the blood filtration and recycling of old blood cells in the body. [8]
- Blood clots: It may occur in areas like the heart, lungs and muscles and cause life-threatening conditions like pulmonary embolism. [9]
- Progressive blood disorder: It occurs when the condition remains untreated causing scarring of the bone marrow (myelofibrosis) and other blood cancer like acute leukaemia.
- Other problems: Increased level of RBC can cause other disorders like gout and peptic ulcers.
Diagnosis Of Polycythemia
Diagnosis of polycythemia is carried out by the following methods:
- Complete blood count test: To determine the total red blood count in the body.
- Medical history: It includes questions about the patient's lifestyle (smoker or not), location (whether staying at high altitude areas), any sleep disorders and any chronic medical conditions like liver cancer or clotting problems.
- X-ray or ECG: This is carried out when polycythemia is due to lung or heart disease.
- Biopsy: To check for the defect in the bone marrow. [10]
- Genetic testing registry: To find out the genetic information of the patient.
Treatment Of Polycythemia
The treatment methods for polycythemia are as follows:
- Phlebotomy: This method is for the low-risk patient. Here, the medical expert draws blood from the veins to reduce the RBC count in the body. The process is carried out once a week and then once a month until the condition becomes normal. [11]
- Medicines to control symptoms: To control the symptoms of the condition, certain drugs are prescribed like aspirin [12] to prevent blood clots in the body, Hydroxyurea to suppress the red blood cells production by the bone marrow, Ruxolitinib to help the immune system destroy cancer cells and antihistamines to reduce itching.
Lifestyle Changes To Manage Polycythemia
- Perform moderate exercise to improve blood flow.
- Avoid smoking.
- If itching prevails, use cold water and mild soap but avoid scratching the area.
- Take extra care of feet and hands.
- Avoid hot bathe and drink plenty of water in hot weather.
- Take preventive measures while going for any sports activities.
- Watch out for blood clots, especially in hands and feet.
- [1] Pillai AA, Babiker HM. Polycythemia. [Updated 2019 Nov 14]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-.
- [2] Kralovics, R., & Prchal, J. T. (2000). Congenital and inherited polycythemia. Current opinion in pediatrics, 12(1), 29-34.
- [3] Spivak, J. L. (2002). Polycythemia vera: myths, mechanisms, and management. Blood, 100(13), 4272-4290.
- [4] Saini, K. S., Patnaik, M. M., & Tefferi, A. (2010). Polycythemia vera‐associated pruritus and its management. European journal of clinical investigation, 40(9), 828-834.
- [5] Bluefarb, S. M. (1955). Cutaneous manifestations of polycythemia vera. Quarterly Bulletin of the Northwestern University Medical School, 29(1), 8.
- [6] Solmaz, S., Duksal, F., & Ganidağlı, S. (2015). Is obstructive sleep apnoea syndrome really one of the causes of secondary polycythaemia?. Hematology, 20(2), 108-111.
- [7] Aitchison, R., & Russell, N. (1988). Smoking--a major cause of polycythaemia. Journal of the Royal Society of Medicine, 81(2), 89–91.
- [8] Wolf, B. C., Banks, P. M., Mann, R. B., & Neiman, R. S. (1988). Splenic hematopoiesis in polycythemia vera: a morphologic and immunohistologic study. American journal of clinical pathology, 89(1), 69-75.
- [9] Bhatt, V. R. (2014). Secondary polycythemia and the risk of venous thromboembolism. Journal of clinical medicine research, 6(5), 395.
- [10] De Mascarel, A. (1994). Contribution of bone marrow biopsy in the diagnosis and prognosis of polycythemia vera. Nouvelle revue francaise d'hematologie, 36(2), 165.
- [11] Podoltsev, N. A., Zhu, M., Zeidan, A. M., Wang, R., Wang, X., Davidoff, A. J., ... & Ma, X. (2018). The impact of phlebotomy and hydroxyurea on survival and risk of thrombosis among older patients with polycythemia vera. Blood advances, 2(20), 2681-2690.
- [12] Fjellner, B., & Hägermark, Ö. (1979). Pruritus in polycythemia vera: treatment with aspirin and possibility of platelet involvement. Acta dermato-venereologica, 59(6), 505-512.
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