Polycythemia

Definition
• Poly (many) and cythemia (cells in the blood),
• An abnormal increase in the RBCs.
• Patients with hematocrit values greater than 51% and 48%
and hemoglobin values greater than 18.5g/dL and 16.5 g/dL
in males and females
Types of Polycythemia
• Primary Polycythemia
• Polycythemia Vera
• Pure erythrocytosis
• Secondary Polycythemia
• Physiologically inappropriate secretion of erythropoietin and/or
other contributing factors.
• Physiologically appropriate.
Primary Polycythemia
• PV - Increased erythroid progenitor cells as well as increased
sensitivity to erythropoietin secondary to a mutation called
JAK mutation
• PER - Elevated RBC mass in the absence of any other
precipitating factor
EPO Signalling
pathway
Polycythemia vera
• An image from a peripheral
blood smear showing a thick
smear with an abundant red
blood cells and platelets often
seen in polycythemia vera
Pure erythrocytosis
• Leishman-stained bone marrow
smears showing erythroid
hyperplasia with
dyserythropoiesis, and distinct
population of blasts with opened
up chromatin and 2–3 prominent
nucleoli
Physiologically appropriate secondary
polycythemia (tissue hypoxia).
• Acquired
• High-altitude habitat
• Central hypoxic process
• Chronic lung disease (COPD)
• Right-to-left cardiopulmonary vascular shunts, cyanotic heart
disease
• Carbon monoxide poisoning
• Smoker’s erythrocytosis
• Hypoventilation syndromes including obstructive sleep apnea,
obesity hypoventilation syndrome
• Renal disease (local renal hypoxia, renal artery stenosis)
Physiologically appropriate
• Congenital
1.Hemoglobinopathy with high-oxygen-affinity
2.Decreased levels of erythrocyte 2,3,-DPG
3.Bisphosphoglycerate mutase deficiency
4.Methemoglobinemia
5.Hereditary ATP increase
Physiologically Inappropriate Secondary
Polycythemia
1.Tumors with excessive production of erythropoietin
2.Drug associated: erythropoietin administration, androgen
administration
3.Renal diseases including cysts, polycystic kidney disease,
hydronephrosis, nephrotic syndrome, diffuse parenchymal
disease
4.Adrenal cortical hypersecretion
5.Idiopathic polycythemia
Relative Polycythemia
• Relative polycythemia is an elevated hematocrit marked with
a normal to high normal RBC mass and low normal to
decreased plasma volume.
Clinical Manifestation
Diagnosis
• History and Physical
• Smoking status, any history of weight loss, cough, palpitations,
dyspnea, snoring
• Anabolic steroids for muscle mass
• Cyanosis and clubbing may also be seen
• Splenomegaly, Hepatomegaly may be present in some patients.
• Pulse oximetry is essential.
• Oxygen saturation less than 92% suggests hypoxia,
• Renal diseases
Evaluation
• An erythropoietin assay must be
obtained.
• In-vitro culture of the erythroid
cells can also be done to
diagnose secondary
polycythemia.
• JAK2 mutation must be
investigated for polycythemia
vera
Clinical Evaluation