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POLYCYTHEMIA
Dr . T.Arivazhagan
Post Graduate
Department of Pathology
DEFINITION
• Polycythemia is a blood disorder in which the body produce too
many blood cells
• Due to problem in the bone marrow or increased production of
erythropoietin
• It is also defined as increase in the HB level
• > 17gm/dl – Male
• >15gm/dl – Female
RELATIVE
Low volume state:
1. Dehydration
2. Burns
3. Prolonged vomiting
4. Diarrhea
5. Excessive diuretics
6. Stress
ABSOLUTEPOLYCYTHEMIA
1. PRIMARY :
• Polycythemia vera
2.SECONDARY :
• Compensatory EPO increase
• Inappropriate EPO increase
Polycythemiavera
• It is one of the myeloproliferative disorder
• PV is a slow growing type of blood cancer in which bone
marrow produce too many blood cells.
• PV is a clonal stem cell disorder in which there is an
alteration in the pluripotent progenitor cell leading to
excessive proliferation of erythroid progenitor cells
Etio pathogenesis
• Due to change or mutation to DNA in a single cell in the bone
marrow
• JAK2 V617F mutation within exon 14
• JAK2 – important for promotes the growth & proliferation of the
cells.
• Also important for controlling the production of RBC’s
• DNA mutation occurs after the conception
• It means it’s only acquired not inherited.
Riskfactors
1. Age > 60 years
2. M > F
3. Family history
Clinical features
• Early stage – No signs & Symptoms
• Later stage
• Head ache
• Dizziness
• Itchiness
• Redness of skin
• Shortness of breath
• Breathing difficulty
• Numbness , tingling
• Chest pain
• Fatigue
• Bleeding complications < 1%
Diagnosis
Blood test :
• ^ RBC’s, WBC’s & Platelets
• ^ Hematocrit
• ^ HB
• Reduced EPO level
Bonemarrow
• ^ amounts of blood cells
• Hyper cellular
• Trilineage hyperplasia
• Nil iron stores : Because of utilization of the iron by
norm oblast
• Analysis for DNA mutation
Treatment
• Chronic condition that can’t be cured
• Aim to reduce the amount of red cells
• Phlebotomy
• Medicine – Hydroxyurea , INF – alpha
• Ruxolitinib
Differential diagnosis
1. Secondary polycythemia
2. Geisbock syndrome – Stress erythrocytosis
3. Relative polycythemia
Course of PV
1. Myelofibrosis – Period of 5 to 25 years
2. AML
3. MDS
SECONDARYPOLYCYTHEMIA
The term is used for erythrocytosis where cause is known
• High altitude
• Chronic cor pulmonale
• Cyanotic heart disease
• Kidney tumours
• Uterine leiomyoma
• Cerebellar haemangioblastoma
• Hepatocellular carcinoma EXCESSIVE EPO PRODUCTION
• Hepatic Haemangioma
• Adrenal adenoma
PATHOGENESIS
High altitude
Decreased O2 pressure
Reduced O2 tension
Reduced tissue oxygenation
Reduced kidney oxygenation
Increased erythropoietin production
Increased erythropoiesis
Increased red cell mass
Secondary polycythemia
Symptoms
1. Digital ischemia
2. Head ache
3. Visual disturbances
4. Hypertension
POLYCYTHEMIA VERA SECONDARY POLYCYTHEMIA
Stem cell disorder Secondary to various cause
Not associated with hypoxia Associated hypoxia
EPO – Reduced EPO – increased
Splenomegaly positive Negative
Uric acid increased Normal
Trilineage hyperplasia Not present
DNA mutation Underlying cause
NAP SCORE increased Normal
Red cell mass increased Normal

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Polycythemia

  • 1. POLYCYTHEMIA Dr . T.Arivazhagan Post Graduate Department of Pathology
  • 2. DEFINITION • Polycythemia is a blood disorder in which the body produce too many blood cells • Due to problem in the bone marrow or increased production of erythropoietin • It is also defined as increase in the HB level • > 17gm/dl – Male • >15gm/dl – Female
  • 3.
  • 4. RELATIVE Low volume state: 1. Dehydration 2. Burns 3. Prolonged vomiting 4. Diarrhea 5. Excessive diuretics 6. Stress
  • 5. ABSOLUTEPOLYCYTHEMIA 1. PRIMARY : • Polycythemia vera 2.SECONDARY : • Compensatory EPO increase • Inappropriate EPO increase
  • 6.
  • 7. Polycythemiavera • It is one of the myeloproliferative disorder • PV is a slow growing type of blood cancer in which bone marrow produce too many blood cells. • PV is a clonal stem cell disorder in which there is an alteration in the pluripotent progenitor cell leading to excessive proliferation of erythroid progenitor cells
  • 8. Etio pathogenesis • Due to change or mutation to DNA in a single cell in the bone marrow • JAK2 V617F mutation within exon 14 • JAK2 – important for promotes the growth & proliferation of the cells. • Also important for controlling the production of RBC’s • DNA mutation occurs after the conception • It means it’s only acquired not inherited.
  • 9. Riskfactors 1. Age > 60 years 2. M > F 3. Family history
  • 10. Clinical features • Early stage – No signs & Symptoms • Later stage • Head ache • Dizziness • Itchiness • Redness of skin • Shortness of breath • Breathing difficulty • Numbness , tingling • Chest pain • Fatigue • Bleeding complications < 1%
  • 11.
  • 12.
  • 13. Diagnosis Blood test : • ^ RBC’s, WBC’s & Platelets • ^ Hematocrit • ^ HB • Reduced EPO level
  • 14.
  • 15. Bonemarrow • ^ amounts of blood cells • Hyper cellular • Trilineage hyperplasia • Nil iron stores : Because of utilization of the iron by norm oblast • Analysis for DNA mutation
  • 16.
  • 17. Treatment • Chronic condition that can’t be cured • Aim to reduce the amount of red cells • Phlebotomy • Medicine – Hydroxyurea , INF – alpha • Ruxolitinib
  • 18. Differential diagnosis 1. Secondary polycythemia 2. Geisbock syndrome – Stress erythrocytosis 3. Relative polycythemia
  • 19. Course of PV 1. Myelofibrosis – Period of 5 to 25 years 2. AML 3. MDS
  • 20. SECONDARYPOLYCYTHEMIA The term is used for erythrocytosis where cause is known • High altitude • Chronic cor pulmonale • Cyanotic heart disease • Kidney tumours • Uterine leiomyoma • Cerebellar haemangioblastoma • Hepatocellular carcinoma EXCESSIVE EPO PRODUCTION • Hepatic Haemangioma • Adrenal adenoma
  • 21. PATHOGENESIS High altitude Decreased O2 pressure Reduced O2 tension Reduced tissue oxygenation Reduced kidney oxygenation Increased erythropoietin production Increased erythropoiesis Increased red cell mass Secondary polycythemia
  • 22. Symptoms 1. Digital ischemia 2. Head ache 3. Visual disturbances 4. Hypertension
  • 23. POLYCYTHEMIA VERA SECONDARY POLYCYTHEMIA Stem cell disorder Secondary to various cause Not associated with hypoxia Associated hypoxia EPO – Reduced EPO – increased Splenomegaly positive Negative Uric acid increased Normal Trilineage hyperplasia Not present DNA mutation Underlying cause NAP SCORE increased Normal Red cell mass increased Normal