2. POLYCYTHEMIA– Definition?
Polycythemia is a blood disorder in
which the body produces too many
blood cells as a result of a problem
with the bone marrow or an increased
production of the hormone
erythropoietin(EPO).
3. POLYCYTHEMIA– Definition?
• Often patients with polycythemia are detected
through an incidental finding of elevated
hemoglobin or hematocrit levels.
• Concern that the hemoglobin level may be
abnormally high is usually triggered at 170 g/L
(17 g/dL) for men and 150 g/L (15 g/dL)for
women.
• Hematocrit levels >50% in men or >45% in
women may be abnormal.
6. Absolute Polycythemia
• Primary Polycythemia also known as
Polycythemia Vera is caused by a problem
with the bone marrow resulting in an
overproduction of cells
• Secondary Polycythemia is caused by an
increased production of erythropoietin
resulting in an overproduction of red blood
cells
7.
8. Polycythemia Vera
• Polycythemia vera is a slow-growing
type of blood cancer in which your bone
marrow makes too many red blood cells.
• Polycythemia vera may also result in
production of too many of the other
types of blood cells — white blood cells
and platelets.
9. • The JAK2 gene provides instructions for making a
protein that promotes the growth and division
(proliferation) of cells.
• This protein is part of a signaling pathway called
the JAK/STAT pathway, which transmits chemical
signals from outside the cell to the cell's nucleus.
• The JAK2 protein is especially important for
controlling the production of blood cells from
hematopoietic stem cells.
• These stem cells are located within the bone
marrow and have the potential to develop into
red blood cells, white blood cells, and platelets.
10. Etiology
Mutation causes the disorder
• The problem with blood cell production associated with
polycythemia vera is caused by a change, or mutation, to DNA
in a single cell in your bone marrow. In polycythemia vera,
researchers have found this mutation to be a change in a
protein switch that tells the cells to grow. Specifically it's a
mutation in the protein JAK2 (the JAK2 V617F mutation). More
than 90 percent of patients with polycythemia vera, and about
half of patients with other myeloproliferative disorders, have
this mutation. Doctors and researchers don't understand the
full role of this mutation and its implications for treating the
disease.
• The DNA mutation that causes polycythemia vera occurs after
conception — meaning that your mother and father don't have
it — so it's acquired, rather than inherited from a parent.
Researchers and doctors don't know what causes the mutation.
11. Risk Factors
Some factors may increase your risk of developing
polycythemia vera :
• Age - Polycythemia vera is more common in
adults and older than 60. It's rare in people
younger than 20
• Sex - Polycythemia vera affects men more often
than it does women.
• Family history - In some cases, polycythemia vera
appears to run in families, indicating that genetic
factors other than JAK2 may contribute to the
disease.
12.
13.
14.
15. Signs & Symptoms
In its early stages, polycythemia vera usually doesn't
cause any signs or symptoms. As the disease progresses,
the following Symptoms may be experienced:
1. Headache
2. Dizziness
3. Itchiness, especially following a warm bath or
shower
4. Redness of your skin and plethoric facial
appearance
5. Shortness of breath
6. Breathing difficulty when pt is lying supine
16. Signs & Symptoms
7. Numbness, tingling, burning or
weakness in the hands, feet, arms or
legs
8. Chest pain
9. A feeling of fullness or bloating in your
left upper abdomen due to an enlarged
spleen
10.Fatigue
17. • Bleeding complications, seen in approximately 1% of
patients with PV, include epistaxis, gum bleeding,
ecchymoses, and gastrointestinal (GI) bleeding.
Thrombotic complications (1%) include venous
thrombosis or thromboembolism and an increased
prevalence of stroke and other arterial thromboses.
• Abdominal pain due to Peptic Ulcer Disease may be
present because PV is associated with increased
histamine levels and gastric acidity or possible Budd-
Chiari Syndrome (hepatic portal vein thrombosis).
• Pruritus results from increased histamine levels
released from increased basophils and mast cells and
can be exacerbated by a warm bath or shower. This
occurs in up to 40% of patients with PV.
18.
19. Hematological Tests
FBC
1. An increase in the number of red blood cells
and, in some cases, an increase in platelets or
white blood cells.
2. Elevated hematocrit measurement, the
percentage of red blood cells that make up total
blood volume.
3. Elevated levels of hemoglobin, the iron-rich
protein in red blood cells that carries oxygen.
20. Hematological Tests
ABG
1. Lower than normal levels of oxygen in the
blood.
Erythropoietin
Very low levels of erythropoietin (EPO), a
hormone that stimulates bone marrow to
produce new red blood cells, because the
excess red blood cells turn off the production
of EPO by the kidneys.
21. Bone marrow aspiration or biopsy
• Examination of bone marrow shows
that it's producing higher than normal
amounts of blood cells, it may be a
sign of polycythemia vera. If the
individuals have polycythemia vera,
analysis of their bone marrow or blood
also may show the DNA change (JAK2
V617F mutation) that's associated with
the disease.
25. Polycythemia vera is a chronic
condition that can't be cured.
Treatment focuses on reducing the
amount of blood cells in order to
control signs and symptoms of the
disease and decrease the risk of
complications.
26. 1. Phlebotomy
This is usually the first treatment option for
most people with polycythemia vera.
Phlebotomy involves drawing a certain
amount of blood from one of the veins. This
reduces the number of blood cells and
decreases the blood volume, making it easier
for the blood to function properly.
How often the patient needs phlebotomy
depends on the severity of your condition.
27. 2. Medication to decrease blood cells.
Phlebotomy alone may not be enough to control the signs,
symptoms and complications of polycythemia vera in some
people. If this is the case, then medications such as
hydroxyurea or anagrelide to suppress the bone marrow's
ability to produce blood cells.
Radioactive phosphorus (32p) also can be used to reduce
the number of red blood cells.
Interferon-alpha may be used to stimulate the immune
system to fight the overproduction of red blood cells.
28. 3.Low-dose aspirin.
Aspirin to reduce your risk of
blood clots. Low-dose aspirin
may also help reduce burning
pain in feet or hands.
29. 4. Therapy to reduce itching.
Antihistamines or H-2-receptor
blockers, or ultraviolet light
treatment to relieve
discomfort.
30. Second line therapy for PV
Ruxolitinib (Jakafi), a JAK1/JAK2 inhibitor,
was approved by the FDA in December
2014 for the treatment of patients with
polycythemia vera who have had an
inadequate response to or are intolerant of
hydroxyurea.
