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Introduction
The three pathophysiologic categories of
polycythemia are:
Relative polycythemia (red blood cell mass
normal; plasma volume decreased)
Secondary polycythemia (red blood cell mass
increased)
Polycythemia vera (red blood cell mass
increased)
POLYCYTHEMIA VERA
Alternative Names: Primary polycythemia
Polycythemia rubra vera Myeloproliferative
disorder Erythremia Splenomegalic
polycythemia Vaquez's disease Osler's disease
Polycythemia with chronic cyanosis
Myelopathic polycythemia Erythrocytosis
megalosplenica Cryptogenic polycythemia.
Polycythemia vera is a chronic
myeloproliferative disorder characterized by
increased red blood cell mass (RCM), or
erythrocytosis The resultant hyperviscosity of
the blood predisposes such patients to
thrombosis.
Increased RCM is accompanied by increased
white blood cell (myeloid) and platelet
(megakaryocytic) production, which is due to an
abnormal clone of the hematopoietic stem cells
with increased sensitivity to the different
growth factors for maturation.
The mutation that causes polycythemia vera is
thought to affect a protein switch that tells the
cells to grow. Specifically, it's a mutation in the
protein JAK2 (the JAK2 V617F mutation). Most
people with polycythemia vera have this
mutation.
PATHOPHYSIOLOGY
Normal stem cells are present in the bone
marrow of patients with PV. Also present are
abnormal clonal stem cells that interfere with
or suppress normal stem cell growth and
maturation.
Evidence indicates that the etiology of
panmyelosis is unregulated neoplastic
proliferation. The origin of the stem cell
transformation remains unknown
Pathophysiology
Polycythemia vera should be suspected in
patients with elevated hemoglobin or
hematocrit levels, splenomegaly, or portal
venous thrombosis.
Polycythemia vera Bone marrow film at 100X
magnification demonstrating hypercellularity
and increased number of megakaryocytes
Increase in blood hemoglobin level to 18g/dl.
An RBC count of 6 million/mm 3 or a
hematocrit of 55 percent or greater.
EPIDEMIOLOGY
Polycythemia vera is a rare disease The peak
incidence of PV is age 50-70 years However, it
occurs in persons of all age groups, including
those in early adulthood and childhood. The
disease is slightly more common in males than
in females.
PROGNOSIS
Generally, PV is associated with a shortened
life span. Median survival for all patients is
around 8 to 15 yr if especially treated,
although many patients live much longer.
Thrombosis is the most common cause of
death, followed by complications of
myelofibrosis and development of leukemia.
PV is a malignant disease that progresses in
severity over time if left untreated.
SIGNS AND SYMPTOMS
3 MAJOR HALLMARK SIGNS
Massive production of RBC
Excessive leukocyte production
Excessive production of platelets
Are related to :
Hyperviscosity
Extreme hyeprcellularity cell excess
Facial skin have a dark, flushed appearance
and can also be purplish or cyanotic
Most patient have intense itching caused by
dilated blood vessels poor O2.
Visisble superficial vein distention.
thromboses that can lead to poor oxygen
delivery and symptoms that include:
headache, dizziness, vertigo, tinnitus, visual
disturbances, angina pectoris, or intermittent
claudications.
RISK FACTORS
Increasing age. The risk of polycythemia vera
increases with age. It is more common in
adults older than 60, and it's rare in people
younger than 20.
Being male. Polycythemia vera affects men
more often than women.
Having a family history of polycythemia
vera. Having close relatives with polycythemia
vera may increase your risk of the disease
DIAGNOSIS
The health care provider will perform a physical
exam. Tests that may be done include:
Bone marrow biopsy
Complete blood count with differential
Comprehensive metabolic panel
Erythropoietin level
Genetic test for the JAK2V617F mutation
Oxygen saturation of the blood
Red blood cell mass
Vitamin B12 level
This disease may also affect the results of the
following tests:
ESR
Lactate dehydrogenase
Leukocyte alkaline phosphatase
Platelet aggregation test
Serum uric acid
WHO Criteria for Diagnosis of Polycythemia Vera
Level Specifics
Major criteria
1. Evidence of increased RBC volume, including 1 of the following:
Hb > 18.5 g/dL in men or > 16.5 g/dL in women
Hb or Hct > 99th percentile of method-specific reference range
for age, sex, and altitude of residence
Hb > 17 g/dL in men or 15 g/dL in women if associated with a
documented and sustained increase of at least 2 g/dL from the
patient's baseline value not accounted for by correction of iron
deficiency
Elevated RBC mass > 25% above mean normal predicted value
2. Presence of JAK2 617VF or other functionally similar mutation
(eg,JAK2 exon 12 mutation).
Minor criteria
1. Bone marrow biopsy showing hypercellularity
for age with trilineage growth (panmyelosis)
and prominent erythroid, granulocytic, and
megakaryocytic proliferation
2. Serum erythropoietin level below the
reference range for normal
3. Endogenous erythroid colony formation in
vitro
A diagnosis of polycythemia vera is made
when a patent fulfills all three of the major
criteria Or any two major and any two minor
criteria.
Major Criteria
total RBC vol Men > or = to 36 mL/kg Women
> or = to 32 mL/kg
arterial 02 saturation > or = to 92%
Splenomegaly
Minor Criteria
Thrombocytosis with platelet count >
400,000/Ml
Leukocytosis with WBC > 12,000/mL
Increased leukocyte alkaline phosphatase LAP
> 100U/L (no infection)
Serum B12 > 900 pg/mL
Laboratory findings