Polycythemia

Pearla Lasut
 Definition

 PV 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)
 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.
 RISK FACTORS
• Some factors may increase your risk of developing
polycythemia vera :
• Age. Polycythemia vera is more common in adults
and older than 60. It's rare in people younger than
20.
• Sex. Polycythemia vera affects men more often than
it does women.
• Family history. In some cases, polycythemia vera
appears to run in families, indicating that genetic
factors other than JAK2 may contribute to the
disease.
 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.
Bone marrow aspiration or biopsy: Examination of bone marrow shows that it's
producing higher than normal amounts of blood cells, it may be a sign of
polycythemia vera. If you have polycythemia vera, analysis of your bone marrow
or blood also may show the DNA change (JAK2 V617F mutation) that's associated
with the disease.
 Polycythaemia vera (PV) – modified from
revised WHO criteria for diagnosis

Major criteria
• Haemoglobin >185 g/L in men, 165 g/L in women or other evidence of
increased red cell volume.
• Presence of JAK2 tyrosine kinase V617F or otherfunctionally similar
mutation such as JAK2 exon 12mutation.

Minor criteria
• Bone marrow biopsy, showing hypercellularity for age with trilineage
growth (panmyelosis) with prominent erythroid, granulocytic and
megakaryocytic proliferation.
• Serum erythropoietin level below the reference range for normal
• Endogenous erythroid colony (EEC) formation in vitroa
• Diagnosis requires the presence of both major criteria and one minor
criterion or the presence of the first major criterion together with two
minor criteria.
 Treatment

 Phlebotomy or bloodletting.
 (Reduce the hematocrit to the range of <45%.)
 Anagrelide is a inhibits maturation, thereby
megakaryocyte 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.
THANK YOU