Polycythemia

Lecture slides
Pratap Sagar Tiwari, MD
 Definition

 It is a disease state in which the proportion of blood

volume that is occupied by red blood cells increases.
 An increase in the no of red blood cells =absolute
polycythemia
 Due to decrease in the volume of plasma =relative
polycythemia
 Definition.. continue

 Hematocrit — Polycythemia in the adult patient is

suspected when the HCT is >48 or >52 % in F and M,
respectively.
 (The hematocrit (HCT) is expressed as the percent of a
blood sample occupied by intact RBCs. )
 Hemoglobin concentration — when the HGB is >16.5 or
>18.5 g/dL in F and M, respectively.
 (The hb concentration (HGB) is its content in grams per
100 mL of whole blood. )
 Polycythemia

Absolute Relative

Increase rbc Decrease bld volume

Primary Polycythemia Secondary overtransfusion

Myeloproliferative disorder Dec O2, altitude, Ca

Polycythemia Vera
 Relative polycythemia

 It is an apparent rise of the erythrocyte level in the

blood.
 The underlying cause is reduced blood plasma.
 Relative polycythemia is often caused by loss of body
fluids, such as through burns, dehydration and stress.
 A specific type of relative polycythemia is Gaisböck
syndrome: mild obesity, diastolic htn, ↓ in plasma vol
with relative ↑ in RBC
 Absolute polycythemia

 Overproduction of RBC may be due to a primary

process in the bone marrow= myeloproliferative
syndrome
 May be a reaction to chronically low oxygen levels.
 Overtransfusion
SP:Erythropoietin secreting tumors

 Renal-cell carcinoma
 liver tumors
 von Hippel-Lindau disease
 Uterine fibroids 
 Hemangioblastoma 
 SP:Hypoxemia secondary to:

 Chronic pulmonary disease

 Right-to-left cardiac shunts
 Sleep apnea
 Massive obesity (Pickwickian syndrome)
 High altitude
 Chronic carbon monoxide poisoning (including heavy
smoking)
 PP: Polycythemia Vera

 Polycythemia vera is one of the chronic

myeloproliferative disorders (neoplasms), collectively
characterized by clonal proliferation of myeloid cells.
 The most prominent feature of this disease is an
elevated absolute RBC mass because of uncontrolled
red blood cell production.
 This is accompanied by ↑ WBC and platelet production
as well.
 Pathophysiology

 There is mutation on the Janus kinase-2 gene (JAK2)

 JAK2 is directly involved in the intracellular signaling
of progenitor cells in bone marrow.
 The peak incidence of PV is age 50-70 years.
 Presentation

 Symptoms of PV are often insidious in onset, and they are

often related to blood hyperviscosity.
 Symptoms are related to
1. hyperviscosity
2. sludging of blood flow
3. thromboses
 which lead to poor oxygen delivery and symptoms that
include headache, dizziness, vertigo, tinnitus, visual
disturbances, angina pectoris, or intermittent claudications.
 Presentation……….continue

 Bleeding complications (1%) include epistaxis, gum

bleeding, ecchymoses, and gastrointestinal (GI)
bleeding.
 Thrombotic complications (1%) include venous
thrombosis or thromboembolism and an ↑prevalence
of stroke and other arterial thromboses.
 Presentation……….continue

 Abdominal pain due to PUD is present because PV is

associated with ↑ histamine levels and gastric acidity.
 Splenomegaly, when present, can cause early satiety
because of gastric filling being impaired by the
enlarged spleen .
 Pruritus(40%) results from ↑ histamine levels released
from ↑ basophils and mast cells.
 Physical

 Plethoric face
 Splenomegaly –75%
 Hepatomegaly –30% 
 Investigation

 Polymerase chain reaction :JAK2 mutation

 Serum Epo assay: are often below the lower limit of
normal .

 Leukocyte alkaline phosphatase distinguises PV from

CML.
 Treatment

 Phlebotomy or bloodletting.
 (Reduce the hematocrit to the range of <45%.)
 Anagrelide is a inhibits megakaryocyte maturation, thereby decreasing
platelet counts.
 JAK1/JAK2 inhibitor : ruxolitinib
 Hydroxyurea & Interferon alfa 

 PROGNOSIS  — The median survival of untreated symptomatic

patients with PV was initially estimated at 6 to 18 months from the time
of diagnosis, whereas current survival of treated patients is 10 years or
more.
End of slides