POLYCYTHEMIA VERA

CASE STUDY GROUP 1

CASE STUDY
• A 60-year-old man presents to his physician with complaints of
fatigue, headaches, and dizziness,night sweats over the past few
months. He reports experiencing occasional blurred vision and
pruritis, particularly after a hot shower. On physical examination,
he has an enlarged spleen (splenomegaly), and his skin appears
reddish.

• The physician ordered laboratory tests, including a complete

blood count (CBC) and peripheral blood smear ,the results were as
follows
LAB RESULTS
 HGB: 22.1 g/dL (14-18g/dL)

 Hct: 56 % (41-50%)

 RBC: 71 x 1012/L (4.7 -6.1 x 1012)

 WBC: 18.2 x 109/L (5-10 x109)

 Platelets : 668 x 109/L (150-450)

PERIPHERAL BLOOD SMEAR
QUESTIONS
• Comment on the results and give a provisional diagnosis?

• What are the further tests

• Explain the symptoms in line with the diagnosis

• Treatment plan
Comment on the results and give a provisional diagnosis?

• All the red blood indices(hb,hct,rbcs)are elevated ,white blood cells and platelets are also
elevated ,the PBS slide shows panmyelosis with no poikilocytosis

• The PBS and CBC are consistent with Polycythemia vera,which is a rare blood disorder in
which there is an increase in all blood cells, particularly red blood cells caused by mutations in
the Janus kinase 2 (JAK2) gene, which produces a protein (enzyme) that stimulates
excessive production of blood cells in the bone marrow.
FURTHER TESTS
• Polymerase chain reaction (PCR): This is a very sensitive test used to detect and measure specific
genetic mutations that are too small to be seen with a microscope. It looks for the presence or
absence of the JAK2 mutation. PCR testing can be done with blood or bone marrow samples.
• DNA sequencing: DNA sequencing can also be done to look for the mutations in the JAK2 gene.
The JAK2 V617F mutation is found in more than 95 percent of PV.
• Bone marrow biopsy test can also be done to check if there is hypercellularity and panmyelosis
which is typical of PV
• Serum Erythropoietin levels can be tested also ,if the serum EPO is low and JAK2 mutation test is
positive it will mean it’s a primary PV but if the serum EPO is high but JAK2 is negative then it will
be a secondary PV which may be caused by renal tumours which cause an abnormal increase in
the EPO hence making the red blood cells to be produced in high amounts.
BONE MARROW HYPERCELLULARITY
 SYMPTOMS
Symptoms of polycythemia vera :
• 1. Headaches: Increased blood volume and viscosity can cause frequent or persistent headaches.
• 2. Fatigue: The excess red blood cells can make the blood thicker, leading to reduced oxygen availability
and energy levels, resulting in fatigue.
• 3. Dizziness and lightheadedness: Impaired blood flow and reduced oxygen supply to the brain can cause
dizziness and lightheadedness.
• 4. Shortness of breath: The elevated red blood cell count can reduce lung function, leading to difficulty in
breathing.
• 5. Itching (pruritus): A common symptom caused by elevated histamine levels due to increased white
blood cells in polycythemia vera.
• 6. Sweating and night sweats: Increased blood flow and body temperature regulation issues can cause
excessive sweating, particularly at night.
• 7. Visual disturbances: Blood flow irregularities can affect blood vessels in the eyes, leading to blurred
TREATMENT
Polycythemia Vera (PV) is not curable, but it can usually be managed effectively for very long periods .

Low-Dose Aspirin
• Low-dose aspirin may reduce the risk of blood clots, heart attacks and strokes. Low-
dose aspirin helps prevent platelets from sticking together, making it less likely for
blood clots to form
Therapeutic Phlebotomy
• Most PV patients have their blood drawn regularly to reduce the number of blood
cells and decrease blood volume. Phlebotomy is a procedure in which blood is taken
from a vein similarly to what is done when donating blood. The immediate effect of
phlebotomy is to decrease certain symptoms, such as headaches, itchiness, vision
problems, ringing in the ears and dizziness.
TREATMENT
Medications to Reduce the Number of Blood Cells

High-risk PV patients may be prescribed cytoreductive drugs(Chemo drugs) to reduce the number of blood
cells. These drugs may include any or a combination of the drugs listed below

 Hydroxyurea (Hydrea®): inhibits the formation of DNA by blocking an enzyme known as ribonucleotide
reductase hence slowing down the production of platelets,rbcs and wbcs in the bone marrow

 Ruxolitinib (Jakafi®): Jakafi helps to reduce overactive JAK signalling ,to help keep the production of
blood cells under control (C). Jakafi may also help to reduce the size of an enlarged spleen.

Treatments to Reduce Itching(pruritis)

 Bathe less frequently.

 Bathe or shower in cool water and use a gentle soap.

• Avoid hot tubs, heated whirlpools and hot showers or baths

THANK
YOUUUUU!!!!!!!!