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Polycythemia vera (PV) is a bone marrow disorder which may lead to a thickening of blood and cause serious health problems, including death. Find out all about the condition, including its symptoms, treatment and life expectancy.

What is Polycythemia vera?

It is a condition of the bone marrow that results in an overproduction of blood cells, mainly the RBCs (red blood cells).

Polycythemia vera ICD 9 Code

The ICD 9 Code for PV is 238.4.

Polycythemia vera Incidence

The disease is most common in individuals aged 60 years or above although it may affect individuals of any age. It is a rare condition, occurring in approximately one out of 100,000 people every year. However, the worldwide incidence of this disease tends to vary.

The disease affects men and women of all ethnic backgrounds.

Polycythemia vera Synonyms

The disease is known by many other names, like:

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Picture 1 – Polycythemia vera

  • Cryptogenic polycythemia
  • Erythremia
  • Erythrocytosis megalosplenica
  • Myeloproliferative disorder
  • Osler’s disease
  • Primary polycythemia
  • Polycythemia rubra vera
  • Polycythemia with chronic cyanosis – Myelopathic polycythemia
  • Splenomegalic polycythemia
  • Vaquez’s disease

Polycythemia vera Symptoms

The condition is characterized by a number of symptoms, such as:

  • Dizziness
  • Extreme blood loss
  • Respiratory difficulties in a lying down posture
  • Headache
  • A sensation of fullness in the left area of the upper abdomen, caused by an enlarged spleen
  • Itchiness, particularly after a warm bath
  • Redness, particularly of the face
  • Phlebitis symptoms
  • Respiratory shortness
  • Fatigue
  • Visual problems
  • Red spots on skin
  • Bluish color of skin

Some of these problems arise due to clothing and thickening of blood.

However, patients with this disease may also be asymptomatic. They might not exhibit any health problems characteristic of this condition.

PV leads to a thickening of blood in its patients and reduces the rate of blood flow, thus increasing the risk of blood clot development. The development of a blood clot in the head can lead to a stroke, which is exhibited by symptoms like:

  • Sudden difficulty in understanding speech (Aphasia) or speaking
  • Sudden weakness, numbness or paralysis of an arm, leg or face, usually occurring on only one side of the body
  • Sudden double vision, blurred vision or reduced visual capabilities
  • Sudden loss of balance or sense of coordination
  • Sudden dizziness
  • Mental confusion
  • Memory problems (problems in retention)
  • Problems in perception or spatial orientation

Patients may also suffer from a sudden headache of an unusual or severe nature, which may be accompanied by painful sensations in the face or between the eyes. There may also be other symptoms, such as

  • Vomiting
  • Altered consciousness
  • Stiff neck

Polycythemia vera Causes

PV arises due to a mutation in the bone marrow, which leads to a problem in the production of blood cells in the body. In healthy individuals, the body carefully monitors the amount of all the three forms of blood cells – Red Blood Cells (RBCs), White Blood Cells (WBCs) and platelets. However, in patients with this condition, the natural mechanism to control blood cell production becomes defective. In the absence of regulation, the bone marrow ends up manufacturing too much of some type of blood cells – primarily the red blood cells (RBCs).

The mutation, that gives rise to PV, is supposed to disturb a protein switch that instructs the blood cells to grow. This mutation specifically occurs in the protein JAK2. Hence, the genetic mutation has been given the name “The JAK2 V617F mutation”. The majority of PV sufferers are found to have this variation in their gene. Researchers and doctors have not yet been able to understand the complete role of this mutation and its significances for treatment of this syndrome.

Is Polycythemia vera Hereditary?

The majority of cases of this disorder are acquired and not inherited. Medical researchers do not have a specific answer as yet as to what leads to the mutation that result in PV. However, researchers have a theory that the mutation takes place after conception. This means that you acquire the defect rather than inherit it from a parent. You may suffer from the defect even if neither your mother nor your father has it. The disorder is said to be related to somatic genetic changes. This indicates that the changes are present only in a few cells and are acquired during the lifetime of a patient.

It is only in rare cases that the condition has been found to affects generations of the same family. In some families, the disorder is supposed to be inherited by patients in an autosomal dominant pattern. This means the presence of only one copy of a mutated gene in each cell is enough to increase the risk of PV. However, medical research has not been able to identify any gene that acts as the cause of the disorder. In such families, patients appear to be genetically more susceptible to this disorder and do not inherit the condition itself.

Polycythemia vera Diagnosis

The condition is often determined with the aid of

Blood tests

Doctors use medical tests to examine the blood of suspected PV sufferers and determine whether:

  • The amount of red blood cells, and also WBCs or platelets in some cases, has increased
  • There is an increase in Hematocrit, the percentage of RBCs that constitute the complete blood volume
  • There is a rise in Hemoglobin, the iron-rich protein that carries oxygen in blood
  • There is extreme deficiency of Erythropoietin (EPO), a hormone stimulating the bone marrow to manufacture new RBCs

Bone marrow aspiration or biopsy

An aspiration or biopsy of the bone marrow may be recommended by a doctor if you are suspected of having PV. Aspiration helps physicians collect a liquid part of the bone marrow sample while biopsy involves collecting a sample of the solid material of the bone marrow. Aspiration is generally carried out at the same time as that of biopsy.

If on examination the bone marrow is found to be producing blood cells in higher than usual amounts, PV may be present in the patient.

Genetic tests

In patients with PV, an examination of the blood or bone marrow may also reveal the JAK2 V617F mutation in their cells associated with the condition.

Polycythemia vera Differential Diagnosis

The Differential Diagnosis of PV includes distinguishing the symptoms of this condition from those of similar disorders, such as:

  • Secondary Polycythemia
  • Chronic Myelogenous Leukemia

Polycythemia vera Treatment

A chronic condition, PV cannot be cured by any specific treatment option. Medical treatment for this disease aims at reducing the excess amount of blood cells in patients. In the majority of sufferers, treatment is successful in preventing the development of complications from this disease and reduces or even resolves signs and symptoms of the condition.

For PV sufferers, medical treatment may involve:

Phlebotomy

It is a process that involves taking some amount of blood out of the veins of affected individuals. This is generally the first treatment option for PV sufferers. It helps lower the amount of blood cells and reduces the volume of blood. This allows the blood to function in a proper way more easily.  The number of times the process is needed depends on the severity of the health condition of patients.

Medications

If the use of Phlebotomy alone is found to be insufficient in improving the condition, drugs like Anagrelide (Agrylin) or Hydroxyurea (Hydrea, Droxia) may be used to reduce the amount of blood cells by suppressing the manufacturing ability of the bone marrow. Doctors may use Interferon-alpha to stimulate the natural immunity and help it combat the excess production of RBCs (red blood cells).

If patients are found to suffer from annoying itchiness, doctors may recommend ultraviolet light treatment or prescribe medicines, such as antihistamines, to relieve discomforting sensations.

Low-dose aspirin

In some cases, low doses of aspirin may be recommended to PV suffers to lower the risk of blood clot development. This may also help decrease the intensity of burning pain in the hands or feet of patients.

Polycythemia vera Home Remedies

If you are suffering from PV, you may use some home remedies to improve your condition and manage the symptoms better. These include:

Workouts

Moderate exercise, in the form of walking, may improve the flow of blood and reduce the risk of blood clot development. Performing stretches and exercises with the help of ankle and leg may also improve the circulation of blood in them.

Avoiding tobacco

Intake of tobacco in any form leads to the narrowing of blood vessels and can make you more susceptible to stroke or heart attacks due to formation of blood clots.

Practicing skin care

If you are suffering from itchy sensations, wash your skin with cool water and pat it dry. This will help reduce itching. Avoid taking hot baths or showers or bathing in heated whirlpools or hot tubs. Do not scratch the skin with nails as it might get damaged and suffer from bacterial infection. Keep your skin moist with a soft body lotion.

Avoiding extreme temperatures

Reduced blood circulation increases your susceptibility to injuries from very cold or hot temperatures. You should always wear warm garments, especially on your hands and feet, to protect them from cold weather. You should use sunscreen lotions and wear appropriate clothing to protect your skin from the sun – particularly the exposed areas. Also drink lots of liquids to keep yourself hydrated.

Avoiding development of sores

Lack of proper blood flow and circulation can lead to improper healing of the sores on your body, especially those on your hands and feet. You should regularly inspect these areas and report about any sores to your doctor.

Polycythemia vera Complications

The possible complications, which PV patients may suffer from, include:

Splenomegaly or enlarged spleen

The spleen helps the human body filter unnecessary material, such as damaged or old blood cells and combat infection. The presence of higher number of blood cells, caused by PV, leads to increased activity of the spleen. This results in its enlargement.

Blood clots

PV leads to an abnormal thickening of the blood, which can slacken the pace of blood flow through the arteries and veins. This, along with abnormalities in the platelets, elevates the risk of development of blood clots. The occurrence of blood clots can lead to problems like Deep Vein Thrombosis, Pulmonary embolism, heart attack or stroke.

RBC complications

The presence of excess RBCs may also give rise to various other complications, which include joint inflammation (Gout) and development of open sores on the inner stomach lining, esophagus (peptic ulcers) or duodenum (Upper Small Intestine).

Skin problems

The condition may also cause itchiness of the skin, particularly after a warm shower or bath, or after taking rest in a warm bed for some time. Patients may suffer from a tingling or burning sensation in their skin, especially on their arms, hands, legs or feet. There can also be redness, particularly of the facial skin.

Other blood diseases

In rare circumstances, the condition may lead to other blood disorders, such as Myelofibrosis, Myelodysplastic syndrome), or Acute leukemia.

Polycythemia vera Risk Factors

There are certain factors which may make you more susceptible to this condition. These include:

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Being male

The disease is found to affect men more frequently than women.

Increasing age

Aged individuals are found to be more at risk of suffering from this disorder than younger ones. The condition is more common in adults who are over 60 years of age. It is only rarely observed in individuals younger than 20.

Family history

The risk of having this disease may also increase if you have a family history of PV. The risk of having this disease can increase for people having close relatives with PV.

Polycythemia vera Prognosis

The condition generally develops at a gradual pace. The majority of PV sufferers do not experience any health issues associated to the disorder even after being diagnosed. PV is often detected before the occurrence of acute symptoms.

Get in touch with your doctor for a diagnosis if you suspect yourself or a family member to be exhibiting any of the signs or symptoms of PV. It is not advisable to neglect the disorder to a later stage, when severe symptoms start appearing, and go for an early diagnosis to keep the condition in check while the health issues are negligible and not serious enough to impair daily activities.

References:

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001615/

http://www.mayoclinic.com/health/polycythemia-vera/DS00919

http://www.webmd.com/digestive-disorders/polycythemia-vera

http://ghr.nlm.nih.gov/condition/polycythemia-vera


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