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Polycythemia vera

Email this page to a friendShare on facebookShare on twitterBookmark & SharePrinter-friendly version Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells (primarily red blood cells). Causes Polycythemia vera is a disorder of the bone marrow. It mainly causes too much production of red blood cells, although the numbers of white blood cells and platelets are also increased. It is a rare disease that occurs more often in men than women, and is rare in patients under age 40. It is usually associated with a gene mutation called JAK2V617F. The cause of this mutation is unknown. Symptoms Breathing difficulty when lying down Dizziness Excessive bleeding Fullness in the left upper abdomen (due to enlarged spleen) Headache Itchiness, especially after a warm bath Red coloring, especially of the face Shortness of breath Symptoms of phlebitis

Note: Some of these symptoms are due to increased blood thickness and clotting. Other symptoms that may occur with this disease: Bluish skin color Fatigue Red skin spots Vision problems

Exams and Tests The health care provider will perform a physical exam. Tests that may be done include: Bone marrow biopsy Complete blood count with differential Comprehensive metabolic panel Erythropoietin level Genetic test for the JAK2V617F mutation Oxygen saturation of the blood Red blood cell mass Vitamin B12 level

This disease may also affect the results of the following tests: ESR Lactate dehydrogenase Leukocyte alkaline phosphatase Platelet aggregation test Serum uric acid

What Is Polycythemia Vera?


Polycythemia vera (POL-e-si-THEE-me-ah VAY-rah or VE-rah), or PV, is a rare blood disease in which your body makes too many red blood cells. The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily. These clots can block blood flow through your arteries and veins, which can cause a heart attack or stroke. Thicker blood also doesn't flow as quickly to your body as normal blood. Slowed blood flow prevents your organs from getting enough oxygen, which can cause serious problems, such as angina (an-JInuh or AN-juh-nuh) and heart failure. (Angina is chest pain or discomfort.)

Overview
Red blood cells carry oxygen to all parts of your body. They also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. Red blood cells are made in your bone marrowa sponge-like tissue inside the bones. White blood cells and platelets (PLATE-lets) also are made in your bone marrow. White blood cells help fight infection. Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding. If you have PV, your bone marrow makes too many red blood cells. It also can make too many white blood cells and platelets. A mutation, or change, in the body's JAK2 gene is the major cause of PV. This gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. PV develops slowly and may not cause symptoms for years. The disease often is found during routine blood tests done for other reasons. When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally. For example, slower blood flow deprives your arms, legs, lungs, and eyes of the oxygen they need. This can cause headaches, dizziness, itching, and vision problems, such as blurred or double vision.

Outlook

PV is a serious, chronic (ongoing) disease that can be fatal if not diagnosed and treated. PV has no cure, but treatments can help control the disease and its complications. PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.

Definition
Polycythemia vera is a blood disorder in which your bone marrow makes too many red blood cells. Polycythemia vera also may result in production of too many of the other types of blood cells white blood cells and platelets. But it's the excess red blood cells that thicken your blood and cause most of the concerns associated with polycythemia vera. Polycythemia vera also called primary polycythemia is rare and usually develops slowly. You may have it for years without noticing signs or symptoms. Often, polycythemia vera is found during a blood test done for some other reason. Without treatment, polycythemia vera can be life-threatening. However, with proper medical care, many people experience few problems related to this disease.

Epidemiology
Incidence and prevalence Incidence: 2.3 per 100,000; increases linearly with age until 80 years Highest incidence (18.3 per 100,000) found among men aged 80 years and older Some researchers have found a significant increase in incidence since 1970, probably due to better case ascertainment Prevalence: 0.6 to 1.6 per 100,000 Frequency: Rare, affecting 1.0 per 100,000 in the U.S. Average annual mortality rate is 0.7 to 1.0 per 100,000 Demographics Age: Older age is the only established risk factor Peak incidence occurs between the ages of 50 and 70 years with a mean age of onset of 60 years. Incidence increases linearly with age until 80 years

Highest incidence found in men aged 80 years and older (18.3 per 100,000) and women aged 70 to 79 years (14.6 per 100,000) Can occur at any age; however, is rare in childhood Gender:

No clear gender predilection, but some researchers have found a slight excess in men Race:

Some researchers have found a slight excess in persons of Jewish ancestry; however, it can occur in persons of all ethnic groups Genetics:

An acquired somatic mutation in the Janus tyrosine kinase 2 (JAK2V617F) gene in myeloid cells has been identified in a subset of patients with chronic myeloproliferative neoplasms but most commonly in polycythemia vera (95% of cases). In a majority of cases, the JAK2V617Fmutation is in exon 14 (96%); in a minority of cases, it is in exon 12 (approximately 3%). More recently, other mutations involving TET2 have been found in approximately 16% of polycythemia vera patients This mutation may also be seen in patients with primary myelofibrosis (45%) and essential thrombocythemia (35%) The full clinical significance of the JAK2 and TET2 mutations are as yet undetermined Future investigation may establish prognostic significance to the presence of the JAK2 mutation and may identify novel JAK2-targeted therapeutic strategies Certain genetic abnormalities have been observed in up to 10% of patients; for example, trisomy 8 (8+), trisomy 9 (9+), or deletion of the long arm of chromosomes 5 or 20 (5q-, 20q-). These are similar to abnormalities seen in other myeloproliferative neoplasms There have been reports of apparent clustering in families, but this is rare

Causes and risk factors


Causes Common causes: A primary myeloproliferative neoplasm that originates in an abnormal multipotent cell clone within the bone marrow There is uncontrolled differentiation of the abnormal clone along all three blood cell lineages, with overproduction of erythrocytes, leukocytes, and platelets The origin of the stem cell transformation has recently been elucidated. A point mutation in the gene for the JAK2 tyrosine protein kinase has been found in 95% of people with polycythemia vera. This mutation results in constitutive kinase activity and induces cytokine hypersensitivity or independence of factordependent cell lines Rare causes: Mutations in the erythropoietin receptors that truncate the intracellular regulatory domains and increase the sensitivity of erythroid precursors to erythropoietin with amplified production of erythrocytes

Signs and Symptoms of Polycythemia Vera


More Common Hematocrit level > 52 percent (0.52) in white men, > 47 percent (0.47) in blacks and women

Hemoglobin level > 18 g per dL (180 g per L) in white men, > 16 g per dL (160 g per L) in blacks and women) Plethora Pruritus after bathing Splenomegaly Weight loss Weakness Sweating Less Common Bruising/epistaxis Budd-Chiari syndrome Erythromelalgia Gout Hemorrhagic events Hepatomegaly Ischemic digits Thrombotic events Transient neurologic complaints (headache, tinnitus, dizziness, blurred vision, paresthesias) Atypical chest pain

Tests and diagnosis


By Mayo Clinic staff

Bone marrow biopsy

Blood tests Doctors most frequently use blood tests to diagnose polycythemia vera. If you have polycythemia vera, blood tests may reveal: An increase in the number of red blood cells and, in some cases, an increase in platelets or white blood cells. Elevated hematocrit measurement, the percentage of red blood cells that make up total blood volume. Elevated levels of hemoglobin, the iron-rich protein in red blood cells that carries oxygen. Very low levels of erythropoietin (EPO), a hormone that stimulates bone marrow to produce new red blood cells. Bone marrow aspiration or biopsy If your doctor suspects you have polycythemia vera, he or she may recommend a bone marrow aspiration or biopsy to collect a sample of your bone marrow. A bone marrow biopsy involves taking a sample of solid bone marrow material. A bone marrow aspiration is usually done at the same time as a biopsy. During an aspiration, your doctor withdraws a sample of the liquid portion of your marrow. If an examination of your bone marrow shows that it's producing higher than normal numbers of blood cells, it may be a sign of polycythemia vera. Tests for the gene mutation that causes polycythemia vera If you have polycythemia vera, analysis of your bone marrow or blood also may show the mutation in the cells (JAK2 V617F mutation) that's associated with the disease. Treatments and drugsPreparing for your appointment

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See Also
Hematocrit test Bone marrow biopsy and aspiration Hemoglobin test

Causes
Polycythemia vera is a disorder of the bone marrow. It mainly causes too much production of red blood cells, although the numbers of white blood cells and platelets are also increased. It is a rare disease that occurs more often in men than women, and is rare in patients under age 40. It is usually associated with a gene mutation called JAK2V617F. The cause of this mutation is unknown.

Back to TopSymptoms

Breathing difficulty when lying down Dizziness Excessive bleeding Fullness in the left upper abdomen (due to enlarged spleen) Headache Itchiness, especially after a warm bath Red coloring, especially of the face Shortness of breath Symptoms of phlebitis

Note: Some of these symptoms are due to increased blood thickness and clotting. Other symptoms that may occur with this disease:

Bluish skin color Fatigue Red skin spots Vision problems

Back to TopExams and Tests


The health care provider will perform a physical exam. Tests that may be done include:

Bone marrow biopsy Complete blood count with differential Comprehensive metabolic panel Erythropoietin level Genetic test for the JAK2V617F mutation Oxygen saturation of the blood Red blood cell mass Vitamin B12 level

This disease may also affect the results of the following tests:

ESR Lactate dehydrogenase Leukocyte alkaline phosphatase Platelet aggregation test Serum uric acid

Back to TopTreatment
The goal of treatment is to reduce the thickness of the blood and prevent bleeding and clotting. A method called phlebotomy is used to decrease blood thickness. One unit of blood (about 1 pint) is removed weekly until the hematocrit level is less than 45 (males) or 42 (females). Then therapy is continued as needed. Occasionally, chemotherapy (specifically hydroxyurea) may be given to reduce the number of red blood cells made by the bone marrow. Interferon may also be given to lower blood counts. A medicine called anagrelide may be given to lower platelet counts. Some patients are advised to take aspirin to reduce the risk of blood clots, though it increases the risk for stomach bleeding. Ultraviolet-B light therapy can reduce the severe itching some patients experience.

Back to TopOutlook (Prognosis)


The disease usually develops slowly. Most patients do not experience any problems related to the disease after being diagnosed. The condition is often diagnosed before severe symptoms occur.

Back to TopPossible Complications



Acute myelogenous leukemia (AML) Bleeding from the stomach or other parts of the intestinal tract Gout Heart failure Myelofibrosis Thrombosis (blood clotting, which can cause a stroke, heart attack, or other body damage)

absolute polycythemia an increase in red cell mass caused by increased erythropoiesis, which may occur as a compensatory physiologic response to tissue hypoxia or as the principal manifestation of polycythemia vera. hypertonic polycythemia stress p. relative polycythemia a decrease in plasma volume without change in red blood cell mass so that the erythrocytes become more concentrated (elevated hematocrit), which may be an acute transient or a chronic condition. polycythemia rubra p. vera. secondary polycythemia any absolute increase in the total red cell mass other than polycythemia vera, occurring as a physiologic response to tissue hypoxia. stress polycythemia chronic relative polycythemia usually affecting white, middle-aged, mildly obese males who are active, anxiety-prone, and hypertensive. polycythemia vera a myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia.