POLYCYTHEMIA
Topics to be covered
1. Classification of polycythemia
2. Clinical feature and their cause
3. How to Diagnose
4. Managment
Name :- Akshit Sundriyal Roll No :- 10
D e f i n i t i N n Nf 2 N R / u / t h e m i a
• Abnormal increase in the number of red blood cells in the bloodstream
which can
increase blood viscosity and potentially cause complications such as
thrombosis.
CRassifiuatiNn Nf
2NR/u/themia
1. Primary Polycythemia
2. Secondary Polycythemia
3. Relative Polycythemia
2 N R / u / t h e m i a Ve r a ( 2 V )
Definition:
Polycythemia Vera is a chronic myeloproliferative neoplasm
characterized by the uncontrolled production of red blood cells
(RBCs), white blood cells (WBCs), and platelets, primarily due to a
mutation in the JAK2 gene.
Physiology:
In PV, a JAK2 mutation leads to constant activation of the JAK-STAT
signaling pathway, making hematopoietic stem cells hypersensitive
to growth signals, particularly erythropoietin (EPO). This results
in excessive RBC production, even when EPO levels are low or
suppressed. The increased RBC mass thickens the blood
(hyperviscosity), increasing the risk of thrombosis. Additionally,
overactive myeloid proliferation causes elevated WBCs and
platelets, which can contribute to clotting or bleeding disorders.
Over time, the bone marrow may develop fibrosis, leading to
C R i n i u a R 2 r e s e n t a t i N n Nf 2 N R / u / t h e m i a Ve r a
( 2 V ) an§ Its C a u s e s .
1.Headache, Dizziness, Blurred Vision → Due to increased
blood viscosity, reducing cerebral blood flow.
2.Pruritus (Itching After Hot Showers) → Caused by
histamine release from increased mast cells.
3.Ruddy Complexion (Plethora) → Due to excess red
blood cells causing capillary congestion.
4. Splenomegaly → The spleen enlarges due to increased
RBC turnover.
5.Thrombosis (Stroke, DVT, Heart Attack) → Caused by
hyperviscosity and increased platelet count.
6.Gout and Joint Pain → Due to high uric acid from
excessive RBC breakdown.
D i a g n N s i s N f 2 N R / u / t h e m i a Ve r a ( 2 V ) .
•Complete Blood Count (CBC) → Shows elevated hemoglobin (Hb),
hematocrit (Hct), white blood cells (WBCs), and platelets.
•Erythropoietin (EPO) Level → Low EPO helps differentiate PV from
secondary polycythemia (where EPO is high).
• JAK2 Mutation Testing
•Bone Marrow Biopsy → Reveals hypercellular bone marrow with increased
RBC, WBC, and platelet precursors.
Management Nf 2 N R / u / t h e m i a
Ve r a ( 2 V )
1.Phlebotomy (First-Line Treatment)
•Regular removal of blood to reduce hematocrit below 45%, decreasing blood viscosity and
lowering the risk of thrombosis.
2.Low-Dose Aspirin (81 mg Daily)
• Helps prevent blood clots by reducing platelet aggregation.
3.Symptom Management
• Antihistamines → For pruritus (itching) caused by histamine release from mast cells.
• Allopurinol → To lower uric acid levels and prevent gout due to increased RBC turnover.
4. Monitoring and Long-Term Care
• Regular CBC checks to monitor blood counts.
• Surveillance for disease progression to myelofibrosis or leukemia.
SeuNn§ar/ 2NR/u/themia
Definition:
Secondary polycythemia is an increase in red blood cell (RBC) production due to elevated
erythropoietin (EPO) levels, which stimulates the bone marrow to produce more RBCs in response to
hypoxia (low oxygen) or an abnormal EPO-secreting tumor.
Physiology:
In secondary polycythemia, the body senses low oxygen levels (hypoxia) and responds by increasing
erythropoietin (EPO) production, primarily from the kidneys. EPO then stimulates erythroid
progenitor cells in the bone marrow, leading to increased RBC production. Causes include chronic
hypoxia (e.g., lung disease, high altitude, smoking, congenital heart disease) or EPO-secreting tumors
. Unlike polycythemia vera, secondary polycythemia does not involve JAK2 mutations and typically
lacks elevated WBCs and platelets.
C R i n i u a R S / m F t N m s Nf S e u N n § a r / 2 N R / u / t h e m i a a n § T h e i r C a u s e s
1.Headache, Dizziness, Blurred Vision → Due to increased blood viscosity,
reducing cerebral blood flow.
2.Shortness of Breath (Dyspnea) → Caused by underlying hypoxia (e.g., lung
disease, high altitude, heart disease).
3.Cyanosis (Bluish Skin or Lips) → Due to chronic hypoxia leading to
deoxygenated hemoglobin accumulation.
4.Clubbing of Fingers (In Chronic Hypoxia Cases) → Common in lung
diseases (COPD, congenital heart disease).
5.Ruddy or Plethoric Appearance → Due to increased RBCs causing capillary
congestion.
6.Fatigue and Weakness → Caused by poor oxygen delivery despite high RBC
count.
7.Splenomegaly (Less Common Than in PV) → Occurs if the spleen works harder to
filter excess RBCs.
8.No Itching (Unlike PV) → Since histamine release from mast cells is not increased.
D i a g n N s i s Nf S e u N n § a r / 2 N R / u / t h e m i a
1. Complete Blood Count (CBC)
• Increased Hemoglobin (Hb) and Hematocrit (Hct) → Indicates polycythemia.
• Normal or slightly increased White Blood Cells (WBCs) and Platelets (unlike PV, where they are significantly
elevated).
2. Erythropoietin (EPO) Level
• High EPO → Key finding that differentiates secondary polycythemia from PV (where EPO is low or
suppressed).
3. Arterial Blood Gas (ABG) and Oxygen Saturation
• Low oxygen levels (hypoxia) suggest lung disease, heart disease, or high-altitude adaptation.
4. Carboxyhemoglobin Level (If Smoking is a Factor)
• Elevated in smokers due to chronic carbon monoxide exposure.
5. Imaging Studies (If Tumor is Suspected)
• Abdominal ultrasound or CT scan to check for EPO-secreting tumors (e.g., renal cell carcinoma,
hepatocellular carcinoma).
6. Echocardiogram
• To assess for congenital heart disease (e.g., right-to-left shunts) that may cause chronic hypoxia.
7. Sleep Study (Polysomnography)
• If sleep apnea is suspected as a cause of intermittent hypoxia.
M a n a g e m e n t Nf S e u N n § a r / 2 N R / u / t h e m i a
1.Treat Underlying Cause → Address the primary condition causing increased
erythropoietin (EPO) production.
• Chronic lung disease (e.g., COPD, sleep apnea) → Oxygen therapy.
• High altitude → Acclimatization or relocation.
• Congenital heart disease → Surgical correction if possible.
• EPO-secreting tumors (e.g., renal cell carcinoma) → Tumor resection or targeted
therapy.
2.Phlebotomy (In Select Cases) → Used if symptomatic hyperviscosity is present, but
less frequently than in polycythemia vera.
3.Avoid Triggers → Smoking cessation to prevent hypoxia-induced EPO stimulation.
4.Hydration and Lifestyle Changes → Maintaining good hydration reduces blood
viscosity, and regular exercise improves circulation.
5.Antithrombotic Therapy (If High Thrombotic Risk) → Low-dose aspirin may be
considered in patients with excessive clotting risk.
QeRatiFe 2NR/u/themia
Definition:
Relative polycythemia is an apparent increase in hematocrit (Hct) and
hemoglobin (Hb) due to a decrease in plasma volume, without an
actual increase in red blood cell (RBC) mass. It is often seen in
conditions causing dehydration or plasma loss.
D i a g n N s i s Nf Qe Ra t i Fe 2 N R / u / t h e m i a
1.Complete Blood Count (CBC)
• Increased Hemoglobin (Hb) and Hematocrit (Hct) → Due to plasma volume loss.
• Normal Red Blood Cell (RBC) Mass → Differentiates from polycythemia vera (PV) and secondary
polycythemia.
2. Erythropoietin (EPO) Level
• Normal EPO → Unlike secondary polycythemia, where EPO is elevated.
3. Plasma Volume Studies
• Decreased plasma volume confirms relative polycythemia.
4. Clinical History and Assessment
• Signs of dehydration (e.g., dry mucous membranes, hypotension).
• Smoking history or stress-related factors.
5.Arterial Blood Gas (ABG) and Oxygen Saturation
• Normal oxygen levels (unlike secondary polycythemia, which often has hypoxia).
6. Urine and Electrolyte Tests
• Helps identify dehydration or diuretic use as potential causes.
M a n a g e m e n t Nf Q e R a t i F e 2 N R / u / t h e m i a
1. Treat Underlying Cause
• Dehydration → Increase fluid intake (oral or IV fluids if severe).
• Diuretic Overuse → Adjust or discontinue diuretics under medical supervision.
• Stress-Related Polycythemia (Gaisböck Syndrome) → Lifestyle modifications, stress reduction, and blood
pressure control.
• Smoking-Related Polycythemia → Smoking cessation to improve oxygenation and reduce vasoconstriction.
2. Hydration Therapy
• Encourage adequate water intake to restore plasma volume and normalize hematocrit.
3. Monitor Blood Counts
• Regular CBC tests to track hemoglobin and hematocrit levels after treatment.
4. Manage Cardiovascular Risk Factors
• Control hypertension, obesity, and cholesterol levels to prevent complications.
Unlike polycythemia vera or secondary polycythemia, phlebotomy and cytoreductive therapy are not
needed in relative polycythemia.
Q e f e re n u e s
Gk pal
Guyton Ganong
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