Polycythemia vera
Primary polycythemia; Polycythemia rubra vera; P. Vera; Myeloproliferative disorder; Erythremia; Splenomegalic polycythemia; Vaquez's disease; Osler's disease; Polycythemia with chronic cyanosis; Erythrocytosis megalosplenica; Cryptogenic polycythemiaPolycythemia vera (PV) is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are the most affected blood cell type.
Causes
PV is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may also be higher than normal.
PV is a rare disorder that occurs more often in men than in women. It is not usually seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown. This gene defect is not an inherited disorder.
Symptoms
In people with PV, there are too many red blood cells in the blood. This results in thicker blood, which can't flow through small blood vessels normally, leading to symptoms such as:
- Trouble breathing when lying down
Trouble breathing when lying down
Breathing difficulty while lying down is an abnormal condition in which a person has a problem breathing normally when lying flat. The head must be ...
Read Article Now Book Mark Article - Dizziness
Dizziness
Dizziness is a term that is often used to describe 2 different symptoms: lightheadedness and vertigo. Lightheadedness is a feeling that you might fai...
Read Article Now Book Mark Article - Feeling tired all the time
- Full feeling in the left upper abdomen (due to enlarged spleen)
- Headache
Headache
A headache is pain or discomfort in the head, scalp, or neck. Serious causes of headaches are rare. Most people with headaches can feel much better...
Read Article Now Book Mark Article - Itchiness, especially after a warm bath
Itchiness
Itching is a tingling or irritation of the skin that makes you want to scratch the area. Itching may occur all over the body or only in one location...
Read Article Now Book Mark Article - Red skin coloring, especially of the face
- Shortness of breath
Shortness of breath
Breathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough air
Read Article Now Book Mark Article - Symptoms of blood clots in veins near the skin surface (phlebitis)
Blood clots
Thrombophlebitis is swelling (inflammation) of a vein. A blood clot (thrombus) in the vein is the most common cause of this swelling.
Read Article Now Book Mark Article - Vision problems
Vision problems
There are many types of eye problems and vision disturbances, such as: Halos Blurred vision (the loss of sharpness of vision and the inability to see...
Read Article Now Book Mark Article - Ringing in the ears (tinnitus)
- Joint pain
Exams and Tests
The health care provider will perform a physical exam. You may also have the following tests:
- Bone marrow biopsy
Bone marrow biopsy
A bone marrow biopsy is the removal of marrow from inside bone. Bone marrow is the soft tissue inside bones that helps form blood cells. It is foun...
Read Article Now Book Mark Article - Complete blood count with differential
Complete blood count with differential
A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...
Read Article Now Book Mark Article - Comprehensive metabolic panel
Comprehensive metabolic panel
A comprehensive metabolic panel is a group of blood tests. They provide an overall picture of your body's chemical balance and metabolism. Metaboli...
Read Article Now Book Mark Article - Erythropoietin level
Erythropoietin level
The erythropoietin test measures the amount of a hormone called erythropoietin (EPO) in blood. The hormone tells stem cells in the bone marrow to mak...
Read Article Now Book Mark Article - Genetic test for the JAK2V617F mutation
- Oxygen saturation of the blood
Oxygen saturation of the blood
Blood gases are a measurement of how much oxygen and carbon dioxide are in your blood. They also determine the acidity (pH) of your blood.
Read Article Now Book Mark Article - Vitamin B12 level
Vitamin B12 level
The vitamin B12 level is a blood test that measures how much vitamin B12 is in your blood.
Read Article Now Book Mark Article
PV may also affect the results of the following tests:
- Erythrocyte sedimentation rate (ESR)
Erythrocyte sedimentation rate
ESR stands for erythrocyte sedimentation rate. It is commonly called a "sed rate. "It is a test that indirectly measures the level of certain protei...
Read Article Now Book Mark Article - Lactate dehydrogenase (LDH)
Lactate dehydrogenase (LDH)
Lactate dehydrogenase (LDH) is a protein that helps produce energy in the body. An LDH test measures the amount of LDH in the blood.
Read Article Now Book Mark Article - Leukocyte alkaline phosphatase
- Platelet aggregation test
Platelet aggregation test
The platelet aggregation blood test checks how well platelets, a part of blood, clump together and cause blood to clot.
Read Article Now Book Mark Article - Serum uric acid
Serum uric acid
Uric acid is a chemical created when the body breaks down substances called purines. Purines are normally produced in the body and are also found in...
Read Article Now Book Mark Article
PV must be distinguished from other causes of increased red cells.
Treatment
The goal of treatment is to reduce the thickness of the blood and prevent bleeding and clotting problems.
A method called phlebotomy is used to decrease blood thickness. One unit of blood (about 1 pint, or 1/2 liter) is removed each week until the number of red blood cells drops. The treatment is continued as needed.
Medicines that may be used include:
- Hydroxyurea to reduce the number of red blood cells made by the bone marrow. This drug may be used when the numbers of other blood cell types are also high.
- Interferon to lower blood counts.
- Anagrelide to lower platelet counts.
- Ruxolitinib (Jakafi) to reduce the number of red blood cells and reduce an enlarged spleen. This drug is prescribed when hydroxyurea and other treatments have failed.
Taking aspirin to reduce the risk of blood clots may be an option for some people, but aspirin increases the risk for stomach bleeding.
Ultraviolet-B light therapy can reduce the severe itching some people experience.
Support Groups
More information and support for people with polycythemia vera and their families can be found at:
- Leukemia and Lymphoma Society -- www.lls.org/myeloproliferative-neoplasms/polycythemia-vera
- MPN Research Foundation -- www.mpnresearchfoundation.org/living-with-an-mpn/
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/polycythemia-vera/
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/7422/polycythemia-vera
Outlook (Prognosis)
PV usually develops slowly. Most people do not have symptoms related to the disease at the time of diagnosis. The condition is often diagnosed before severe symptoms occur.
Possible Complications
Complications of PV may include:
- Acute myelogenous leukemia (AML)
Acute myelogenous leukemia
Acute myeloid leukemia (AML) is cancer that starts inside bone marrow. This is the soft tissue in the center of bones that helps form all blood cell...
Read Article Now Book Mark Article - Bleeding from the stomach or other parts of the intestinal tract
- Gout (painful swelling of a joint)
Gout
Gout is a type of arthritis. It occurs when uric acid builds up in the blood and causes inflammation in the joints. Acute gout is a painful conditio...
Read Article Now Book Mark Article - Heart failure
Heart failure
Heart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...
Read Article Now Book Mark Article - Myelofibrosis (disorder of the bone marrow in which the marrow is replaced by fibrous scar tissue)
Myelofibrosis
Myelofibrosis is a disorder of the bone marrow in which the marrow is replaced by fibrous scar tissue.
Read Article Now Book Mark Article - Thrombosis (blood clotting, which can cause a stroke, heart attack, or other body damage)
Stroke
A stroke occurs when blood flow to a part of the brain stops. A stroke is sometimes called a "brain attack. " If blood flow is cut off for longer th...
Read Article Now Book Mark ArticleHeart attack
Most heart attacks are caused by a blood clot that blocks one of the coronary arteries. The coronary arteries bring blood and oxygen to the heart. ...
Read Article Now Book Mark Article
When to Contact a Medical Professional
Contact your provider if symptoms of PV develop.
References
Gotlib J. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 157.
Kremyanskaya M, Najfeld V, Mascarenhas J, Hoffman R. The polycythemias. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Salama ME, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 70.
National Cancer Institute website. Chronic myeloproliferative neoplasms treatment (PDQ) -- health professional version. www.cancer.gov/types/myeloproliferative/hp/chronic-treatment-pdq#link/. Updated November 4, 2020. Accessed March 13, 2023.
Review Date: 2/2/2023
Reviewed By: Mark Levin, MD, Hematologist and Oncologist, Monsey, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.