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Polycythemia Vera: Causes and Treatment

Paper Type: Free Essay Subject: Biology
Wordcount: 2290 words Published: 7th Jun 2018

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From the ancient times to the modern era of today where everything is said to be changed irrespective the good or bad, not only mankind had undergone an evolution but so as the diseases which is why new medical innovations are highly needed to counteract such dilemma. Diseases do not only invade a person externally but also can spread internally as well such as blood diseases. Blood diseases are diseases that involve the mechanisms, functions, site of production, and most importantly the components of blood. According to Hezy (2010), one of the major blood disease is polycythemia Vera, also known as erythremia, primary polycythemia, and polycythemia rubra Vera. Polycythemia Vera is a myeloproliferative rare blood disease in which the bone marrow produces excessive amount of erythrocytes and may also result in the overproduction of leukocytes or platelets causing the blood to be thicker and travels slower than normal. This is a very serious problem as sooner or later the person would suffer from heart attack or stroke as the possibility of having a stroke or heart failure increase by 80% if a person suffers from polycythemia Vera due to blockage of blood vessels. Although polycythemia Vera is considered a very rare disease, it still happens among us despite its low possibility. Therefore, treatments are highly recommended as it could be fatal or lead to another sort of diseases as well because a subset of patients with polcythemia Vera may progress to acute myelogenous leukemia or myelofibribrosis stated by ClinicalKey (2012).

From the research of Ann Intern Med (2013), the statistics shown that polycythemia Vera can occur in any individual irrespective age or gender but it has been proven that is it more common among people with the age group of 50 to 70 years. In overall, polycythemia Vera is more prevalent in men than in women.


According to Vanasse G., et al (2008), the data claimed from major commercial insurance payers in Connecticut and the Center for Medicare and Medicaid Services estimated that the number of patients with polycythemia Vera is 22 per 100,000 respectively for the age-standardized prevalence and it is also estimated that there is a total of approximately 65,200 patients with polycythemia Vera applying the age-specific prevalence to the entire US population in 2003 which is the first assessed prevalence of polycythemia Vera in the large US population. Moreover, Brian J.S., et al (2004) stated that a comprehensive review reported the incidence of polycythemia Vera to be 2.3 per 100,000 each year worldwide. After a thorough diagnosis, the seriousness of polycythemia Vera is underscored by the fact that the median survival for untreated symptomatic patients is about six months to one and a half year but for treating patients, the median survival can be surprisingly prolonged to about seven to fifteen years.

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Based on DoctorTipster (2011), there are a few factors that may increase the risk of developing polycythemia Vera. Firstly, aging is one of the unavoidable factors as the chances of developing polycythemia Vera grow with age. Normally people around the age of 60 years are more prone to this disease and it is hardly found in people who are under 20 years of age. Secondly, it is a fact that polycythemia Vera effects with predilection men and lesser in women by comparison. Thirdly, families with medical history is also one of the risk factors that can lead to polycythemia Vera. Most cases of polycythemia Vera are not inherited, it is associated with genetic changes that are somatic, means that they acquire during a person’s lifetime and are only present in certain cells and not transmitted or passed down generally from parents to children. However, in rare instances family history of polycythemia Vera especially relatives are said to be the cause for the increase of risk for developing the disease. In these families, the risk of developing polycythemia 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 in these cases no causative genes have been identified but these people seem to inherit an increased risk of polycythemia Vera, not the disease itself. Last but not least, the environmental conditions or lifestyles also count as a risk factor as well as polycythemia Vera can occur due to different lifestyles or even different exposures to environmental conditions such as radiation. Exposure to intense radiation may actually increase the risk for the condition or even trigger the disease because the main reason for the development of disease is genetic mutation. Lack of exercise or unhealthy diet will only aggravate the body conditions as most of the people nowadays are already in bad shape because of neglecting health care for work and stress.

Pr Jean B. (2010), stated that the main source of determining an individual either with or without polycythemia Vera is based on whether the mutation occurred in the body’s genes which is the major cause of polycythemia Vera. Polycythemia Vera happens because of the presence of abnormal clonal stem cell expansion that suppresses the growth and maturation of normal stem cell which is a somatic mutation known as JAK2-V617F commonly in exon 14 of the JAK2 gene or in exon 12 which is less common. However, exactly what causes the mutation is still a matter of debate. The presence of a V617F or a mutation of the JAK2 gene can be diagnosed because the gene actually functions to make a protein that aids the body in producing blood cells and so there will be an elevation in the amount of white blood cells, platelets, hematocrit, hemoglobin, and most of all the red blood cell mass which is about 125% greater compared with the normal. As a result, the blood will become thicker and harder to pump which is very dangerous as it can relate to heart attack, stroke, and other health diseases.

Almost all of the health problems associated with polycythemia Vera are caused by the blood of the individual being unusually thick due to overproduction of red blood cells in the body. The disease is more common in the elderly and can be either symptomatic or asymptomatic. TheFreeDictionary (2013), stated that normally there will be common signs and symptoms such as itching and severe burning pain in the hands or feet accompanied by a reddish and bluish colouration of the skin most likely on the face. Unfortunately, patients with polycythemia Vera are also likely to develop gouty arthritis. As the development of polycythemia Vera is rather slow, signs and symptoms might not show for years. Therefore, the disease is often found out when a blood test is done for other purposes. However, when the signs and symptoms are present due to the thickness of the blood slowing down the flow of oxygenated blood to all parts of the body and this will lead to many parts of the body unable to function properly with insufficient oxygen. As a result, one may experience headaches, dizziness, blurred or double vision, shortness of breath, numbness, itchiness especially after bathing with hot water, fatigue, and more. Besides that, there are actually levels or phases where symptoms or effects are shown at various stages. The symptoms of the early polycythemia Vera may be minimal so it is not unusual for the disease to be discovered easily. Patients often experience symptoms like headaches, confusion or impaired memories, breathing difficulty, giddiness, vomiting, hypertension and much more which people would treat them like a minor or a common issue. In some patients’ early symptoms include unusual heavy bleeding from minor cuts, nosebleeds, pain in the bone, or stomach ulcers but there are a few cases the first symptoms is the development of blood clots in an unusual part of the circulatory system such as the liver. As the disease develops, the patients may have episodes of thrombosis or hemorrhage where the fact that thrombosis is the most frequent cause of death from polycythemia Vera. Other complications include a high concentration of uric acid in the blood which increases the risk of getting other diseases. About 10% of the patients eventually develop gout and the other 10% develop peptic ulcers. Based on MayoClinic (2012), one of the effects of polycyhemia Vera is causing the spleen to be greatly enlarged also known as splenomegaly as the spleen aids the body against infections and filter unwanted materials such as old or damaged blood cells. With the increased number of blood cells caused by polycythemia Vera, the spleen intends to work harder than normal which leads to spleen enlargement and the patient’s spleen may even be able to fill the entire left side of the abdomen as time goes on. Therefore, the patients might have the feeling of fullness or bloated in the upper left part of the abdomen.

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Where there is a problem, there will always be solutions to overcome it. According to the BodyandHealth.canada.com (1997), polycythemia Vera is treated with procedures, medicines, and some other treatments. A person with polycythemia Vera may need one or more treatments to manage this disease. The actual goals of treating this blood disease are to control the symptoms and reduce the risk of complications especially heart failure and stroke so in order to achieve the target, the treatments for polycythemia Vera reduce the number of erythrocytes and the level of hemoglobin in the blood which will make the thickness of the blood to be much closer to normal, thus reducing the chances of blood clots in the blood vessels. For this disease, the most recommended treatment is phlebotomy. Phlebotomy is a procedure that removes some blood from the body by inserting a needle into one of the veins and channels the blood into a sterile container via an airtight tube which is quite similar to the process of blood donation. Through this treatment, the red blood cell count is reduced and this brings the thickness of the blood closer to normal. Typically, 1 unit of blood which is around 350ml is removed per week until the hematocrit level which is the measure of how much space red blood cells occupied in the blood falls back to normal and this process is normally carried out every few months. The next treatment involves medications, the doctors may prescribe certain medicines for example hydroxyurea and interferon-alpha that prevents the bone marrow from making way too many red blood cells. Hydroxyurea is a medicine generally used in treating cancer, it has the ability to reduce the number of red blood cells and platelets in the blood whereas interferon-alpha is a substance that our bodies usually produces to prompt our immune system to fight against overactive bone marrow cells. Moreover, radiation treatment is also available as it can help to suppress overactive bone marrow cells which prevent them from making red blood cells uncontrollably but this treatment is less recommended by doctors as the radiation treatment can increase the risk of leukaemia or other blood diseases. Another treatment is by taking aspirin as aspirin can relieve bone pain and the burning sensation in the hands and feet due to polycythemia Vera. In addition, aspirin also has the function to dilute blood so besides relieving pains it also thins the blood causing the blood to flow better in the blood vessels. However, taking aspirin can have side effects without the controlling the amount or dosage. For those who cannot resist the itching caused by polycythemia Vera, the doctor may also prescribe ultraviolet light treatment to relieve the itching.

As preventions are better than cure, it is always a better choice not to rely too much on medications or drugs when solving problems related to health but try using other methods instead if possible. According to the NasionalHeartLung&Bloodinstitution (2011), people with polycythemia Vera should bath using cool water as it helps to reduce the irritation of the skin. Then, always remember to pat the body dry gently after bathing because vigorous rubbing with a towel can also irritate the skin as well. Lastly, one can also take starch baths by adding half a box of starch to a tub of lukewarm water because starch baths can actually help to soothe the skin. Besides taking trivial measures in daily activities, there are other ways to prevent or reduce the risk of one getting polycythemia Vera. First of all moderate physical activities such as walking and stretching is required to maintain a healthy heart rate and to improve blood flow in the body. By improving the blood flowing in the body, the risk of blood clots can be minimized. Following a healthy lifestyle can lower the risk of heart and lung disease, also will help to prevent one from developing secondary polycythemia. Sometimes, secondary polycythemia can be prevented by avoiding activities that will deprive our bodies of oxygen for long periods such as mountain climbing, smoking or other vigorous activities and sports.

As a conclusion, polycythemia Vera is a chronic, and dangerous disease that can be very much fatal if not diagnosed and treated well. Although this disease has no cure, at least until today but the treatments provided will be able to help control the disease and its complications thus prolong more lives. However, it is wiser that we as the owner of our own health should bear most of the responsibilities rather than just relying on doctors and medicines when problems arise as ‘an ounce of prevention is worth a pound of cure’.


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