This document discusses polycythemia, which refers to an increased red blood cell mass. It is classified as either relative, due to decreased plasma volume, or absolute, which can be primary or secondary. Primary polycythemia, also known as polycythemia vera, results from a stem cell mutation and autonomous red blood cell proliferation. It presents with symptoms like cyanosis, headaches, and thrombosis risk. Diagnosis involves blood tests showing increased red blood cells, hematocrit, and neutrophils. Bone marrow biopsy may show fibrosis. Treatment focuses on phlebotomy and medication to control the excessive red blood cell count.

1. POLYCYTHEMIA
SUNIL KAUMAR.P
Dept.of Haematology
St.John’s Medical College
Bangalore
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2. • Definition
• Classification
• Polycythemia Vera
• Pathogenesis
• clinical features
• laboratory diagnosis
• Rx….
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3. POLY CYTHEMIA
POLY = Many or More
CYTHEMIA = a “ Condition involving cells in
the blood”
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4. DEFINITION
• Polycythemia, or erythrocytosis, refers to an
increase in the number in the RBC mass,
usually with a corresponding increase in
haemoglobin level. The increase in red cells
can be absolute or relative.
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5. Classification
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6. Relative Polycythemia
• Is characterized by decreased plasma volume
with a normal red cell mass.
• They may result from dehydration following
prolonged vomiting, diarrohea or excessive use of
diuretics.
• Gaisbock syndrome ( Spurious polycythemia) is
seen in middle- aged, over weight, hypertensive
and anxious (stressed) individuals, and hence
called as stress polycythemia
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7. Absolute Polycythemia
• Is characterized by a true increase in total red
cell mass and can be sub classified as
• 1. Primary Polycythemia and
• 2. Secondary Polycythemia
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8. • Primary Polycythemia or Polycythemia Vera:
• it results from an intrinsic abnormality of the
hematopoietic stem cell.
• Secondary Polycythemia :
• It results as a compensatory response of red
cell progenitors to an increase in EPO
secretion.
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9. POLYCYTHEMIA VERA
• Polycythemia Vera (PV) is an acquired
myeloproliferative neoplasm arising from
malignant transformation of hematopoietic
stem cell.
• It is associated with mutation of
erythropoietin receptor (EPOR) gene that lead
to autonomous erythropoietin-independent
proliferation of red cell progenitor.
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10. Molecular Pathogenesis in ---- PV
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Signal
Transducers +of
Transcription

11. Pathogenesis in Secondary
Polycythemia
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12. Clinical features
• 1. Age : Usual age of presentation is 50-60 yrs
• 2.Sex: slightly male predominance
• 3.Cynosis
• 4.CNS involvement : Head ache
Loss of memory
Dizziness
Vertigo
Thrombosis – Cerebral vessels
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13. • 5. Visual disturbances
• 6.Skin and mucosal changes
• 7.Splenohepatomegaly
• 8.haemostatic symptoms : Eg : epistaxis
• 9.Budd- Chiari syndrome
• 10.Other C/F :
• Weight loss
Sweating
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14. Laboratory Diagnosis
• PB:
Hb – Increased.
HCT - increased.
RBC - increased and usually about 6 millions /
cumm.
WBC – Normal or increased
PLT – Normal or increase
NAP(LAP)- Score is increased to 150-300
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15. Peripheral blood smear
RBC : Show N/N picture.
WBC’s : TC - increased
There is mild moderate leukocytosis
neutrophils are morphologically Nor.
Basophils often increased
NAP (LAP) score - increased
PLTS: often abnormally large and
functionally defective.
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16. Bone marrow
• Cellularity : hyper cellular
• Hyperplasia of all elements.
• Trilineage hyperplasia of erythroid, myeloid,
megakaryocytic series.
• Prominence of erythroid precursors in the BM.
• Iron stores - NIL
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17. Bone marrow biopsy
• Shows reticulin fibers and fibrosis.
• Extensive marrow fibrosis that displaces
hematopoietic cells.
• Uncommonly, transformation to AML also
occur.
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18. Other Findings
• EPO Levels : Decreased (PV)
: Increased in (secondary PV)
• Serum Vit.B12: Increased.
• JAK2 V617F or other functionally similar
mutation can be demonstrated
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19. Cause of Death
• Most of the patients die of vascular
complications.
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20. Treatment
• Venesection
• Myelosupression
• Alpha-Interferon
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