Polycythemia is a condition in which the quantity of red blood cells in the body increases. Blood becomes thicker as a result of the additional cells, which raises the risk of various health problems including blood clots.
Polycythemia can be caused by a variety of factors, each of which has its own set of therapeutic choices. Polycythemia is treated by addressing any underlying illnesses and finding strategies to lower blood cell counts, if possible.
Learn more about the causes of polycythemia, as well as the symptoms and treatment options, in this article.
What are the causes of polycythemia?
Polycythemia is divided into two categories, each with its own set of reasons.
Primary Polycythemia
Polycythemia vera is a kind of polycythemia that occurs
Polycythemia vera is another name for primary polycythemia (PV).
PV is a rare, slow-growing blood malignancy that belongs to the myeloproliferative neoplasm family. PV causes the bone marrow to produce too many precursor blood cells, which mature and function improperly, resulting in an excess of red blood cells.
Other blood cells, such as white blood cells and platelets, may have an increased amount in a person with PV.
Secondary polycythemia
If the rise in red blood cells is not related to PV's myeloproliferative illness, secondary polycythemia might develop.
In secondary polycythemia, the overproduction of blood cells is confined to red blood cells.
Secondary polycythemia can be caused by a variety of factors, including:
- Obstructive sleep apnea
- Some types of tumors
- Heart or lung illness that produces a low oxygen level in the body
- Being at a very high altitude
Risk Factors
Primary polycythemia may affect some persons more than others. Most occurrences of PV emerge as a person matures, generally around the age of 60, according to the National Center for Advancing Translational Sciences. They also point out that it affects more males than women.
PV is not always genetic, and most people who have it don't have a family history of the condition. However, it appears that there is a link to a specific genetic abnormality.
Almost all people with PV have a mutation in the Janus kinase 2 (JAK2) gene, according to the Leukemia & Lymphoma Society. However, the exact role it plays in the disease is yet unknown.
Other gene mutations, such as those in the TET2 gene, may be linked to this illness as well. These genes are usually not passed down down the generations, but in certain rare situations, they can be passed down through the sperm or eggs of a parent to their kid.
Even if there is a family history of PV, a doctor should be consulted.
Symptoms
It is not unusual for a person to be ignorant that they have polycythemia. Symptoms usually appear gradually over time.
The blood thickens when there are too many red blood cells in it, making healthy blood flow more difficult. It can also make a person more susceptible to blood clots. If a person with PV has an overabundance of both red blood cells and platelets, the danger is more higher.
During a normal blood examination or when following up on another ailment, a doctor may find the condition.
PV symptoms may become increasingly noticeable over time. The following are some of the more prevalent symptoms:
- Vertigo or dizziness
- Headaches
Excessive sweating, itchy skin, and ringing in the ears are all symptoms of excessive sweating.
- A burning feeling in the feet
- Blurred eyesight
- Weariness
- Reddish or purple skin on the palms
- Earlobes, and nose bleeding or bruising
- Fullness in the stomach
- Nosebleeds all the time
- Gums that are bleeding
People with PV may be more prone to develop issues if they do not receive therapy, such as:
- Spleen enlargement blood clots angina stroke
- Ulceration in the stomach
Other blood problems, such as myelofibrosis or leukemia, can be caused by heart disease, gout, or other blood disorders.
Diagnosis
If doctors believe a patient has polycythemia, they will request a series of tests to assist them figure out what's wrong.
Blood tests
Any increase in red blood cells in the circulation, as well as any aberrant amounts of platelets and white blood cells, will be shown by blood tests such as a complete blood count. A doctor will conduct additional precise blood testing if PV appears to be a possibility.
Bone marrow biopsy
If required, the doctor may choose to take some bone marrow in order to do lab testing.
A bone marrow biopsy is a procedure in which a needle is used to extract a tiny sample of bone marrow for examination under a microscope.
Genetic tests
Although hereditary causes of PV are uncommon, clinicians may want to look for genetic changes linked to PV in the person's bone marrow.
They might also suggest looking for JAK2 mutations in blood cells.
Treatment
Treatment for polycythemia is influenced by the disorder's underlying cause.
Treating the underlying cause of secondary polycythemia, such as obstructive sleep apnea, might assist people with secondary polycythemia lower their red blood cell count.
PV, on the other hand, is a long-term illness with no treatment. PV therapy tries to control the illness by lowering the red blood cell count while also lowering the risk of consequences including blood clots. There are treatments available if your platelet count is too high.
PV can be treated in a variety of ways:
Phlebotomy
Doctors will try to lower the red blood cell count through a procedure called phlebotomy, which involves physically removing blood from one of the veins.
Doctors may prescribe withdrawing a specified volume of blood at set intervals to bring the red blood cell count closer to normal levels, depending on the individual instance.
Drugs that limit the number of blood cells
Phlebotomy isn't always adequate to keep blood cell development under control. Myelosuppressive medicines may be prescribed by doctors to assist manage blood cell numbers.
Among these medications is hydroxyurea (Hydrea), which inhibits the bone marrow from creating as many blood cells.
Inhibitors of JAK2
Doctors may prescribe pharmaceuticals that suppress the JAK2 enzyme, which is produced by the JAK2 gene, if a patient does not react well to other therapies. Ruxolitinib is one among them (Jakafi).
Other prescription drugs
Other medicines to assist reduce symptoms are frequently recommended by doctors. Aspirin and antihistamines are two examples. In many patients with PV, using low-dose aspirin can help minimize the risk of bleeding while also alleviating bothersome symptoms including headaches. Antihistamine medicines may be prescribed by doctors to assist alleviate itching.
Outlook
Doctors can better treat or control polycythemia if they know what form of polycythemia is causing it. If therapy is available, the person should be able to recover completely.
Because there is currently no cure for PV, therapy will focus on controlling the illness and symptoms.
In the vast majority of cases, the person will have a normal or nearly normal quality of life, and clinicians will be able to properly manage the illness for an extended period of time.
New medications will aim to assist halt the disease's course as well as manage symptoms.
Summary
A rise in the number of red blood cells in the body is known as polycythemia. Doctors may uncover it through a normal blood test, or they may identify it after the patient begins to exhibit symptoms.
PV is a chronic illness for which there is no cure. Effective therapy, on the other hand, can aid in the adequate management of the condition and its symptoms.
Anyone with symptoms of polycythemia vera or a family history of the disease should consult a doctor for a diagnosis.