College Report: Epidemiological Analysis of Polycythemia Vera (NR503)

This report presents an epidemiological analysis of Polycythemia Vera (PV), a blood disorder characterized by clonal cell proliferation. It begins with a detailed background of PV, including its definition, description, signs, symptoms, incidence, and prevalence. The report then explores surveillanc...Read More

Running head: POLYCYTHEMIA VERA 1
Epidemiological analysis: Polycythemia Vera
Student:
Instructor:
NR503 – Population health, epidemiology, & statistical principles
College:
April 9, 2020

POLYCYTHEMIA VERA
Polycythemia vera (PV) is a blood disorder leading to exponential clonal cell
proliferation (Tefferi & Barbui, 2017). The paper will initiate with a detailed background of
the disease followed by surveillance and reporting, epidemiological analysis, screening
guidelines of disease, and nursing plan of action of the disease management. The paper will
also provide a brief epidemiological analysis of this disease.
Background and Significance
Definition of the disease
PV is a disease condition that is characterized by clonal stem-cell proliferation of red
blood cells (RBCs). In some cases, proliferation of RBC is also associated with proliferation
of white blood cells (WBCs), and platelets. When all the blood corpuscles are produced in an
unregulated manner that condition is known as myeloproliferative neoplasms where excess
cells are produced (National Center for Advancing Translational Sciences, 2020).
Description of the disease
In PV, gamut number of blood corpuscles (cells) increases the viscosity of the blood
and this increases the risk for developing blood clots. The formation of unwanted blood clots
blocks the flow of blood in the veins and arteries and thus increasing the chance of
developing cardio-vascular complications. PV is a genetic disorder that results from the
mutation of JAK2 (Jenus kinase gene) gene or TET2 gene (less frequently affected).
Mutation in these genes/gene lead to gene over-expression and this in turn leads generation of
unwanted RBC from the bone marrow and subsequent disease development (National Center
for Advancing Translational Sciences, 2020). The disease is also known as Philadelphia
chromosome–negative myeloproliferative neoplasm (MPN)(Spivak, 2018).
Signs and Symptoms
The thickening of the blood results in heart attack or stokes and increased risk of other
heart diseases. Increased proliferation of RBC leads to the formation of thrombi resulting in

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blood clots followed by the development of stroke. Other symptoms of PV include dizziness,
headaches, ringing in the ears (tinnitus), and impaired vision. In certain cases, formation of
itchy skin (pruritus) or redness of skin (erythema) occurs (Tefferi & Barbui, 2019). Affected
individuals also suffer from splenomegaly or enlarged spleen. The reason behind this is,
spleen is regarded as the graveyard of RBC and increase in the number of RBC in the blood
increase the overall death and deposition of RBC in spleen and thereby causing spleen
enlargement. In certain cases, PV might be regarded as an initial or preliminary indication
towards developing leukemia. However, not all affected individuals will display identical
symptoms; the severity and the nature of the symptoms vary from person to person (National
Center for Advancing Translational Sciences, 2020). In patients with mild symptoms, PV can
persists for several years without any distinct progress or stages (Raedler, 2014). The macro
and micro-vascular complications of PV is highlighted in the list below:
(Source: Raedler, 2014)

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Incidence and Prevalence
The incidence of PV is higher among men (2.8%) in comparison to women
irrespective of ethnicities and race. PV is diagnosed during 60 to 65 years of age and is
uncommon among young adults, younger than 30 years (Raedler, 2014). According to data
collected from the commercial insurance payers of Connecticut USA and from the people
who are under Medicare and Medicaid services, 22 people out of 100,000 insured raise
claims for PV, annually. The rate of incidence increases with the age of the insured. The
same rate of incidence is also recorded for thrombocytopenia. National Organization for Rare
Disorders USA, (2019), stated that due to lack of large population-based studies, the
prevalence of PV in the US has not been documented well.
USA Texas
Rate of incidence 22 people out of 100,000 2 people out of 100,000
Rate of Prevalence 4.4 to 5.7% of people in the
USA are affected with PV
1.5 to 2% of the population in
Texas are affected with PV
(Source: U.S National Library of Medicine, 2019)
Surveillance and Reporting
The surveillance method for PV includes genetic testing. PV is a genetic disorder that
is caused by somatic cell mutation in a single hematopoietic stem cell leading to the
development of the clonal hematopoiesis (the formation and development of blood cells). In
this myelo-proliferative disorder, erythroid is present in the form of hyperplasia. Thus,
markers of the erythro-poietin protein are utilized as the genetic markers for conduction of
the genetic testing of PV among the population. Mainly the older adults who are 60 years old

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are screened in order to highlight the level of disease vulnerability (U.S National Library of
Medicine, 2019).
Mandatory reporting is not conducted in this genetic disorder as it is not a contagious
or an infectious disease (CDC, 2019). Reportable diseases are considered as diseases that are
of great public health threat and spreads like an epidemic. PV falls under the category of the
cancer registry of the U.S and does not demand mandatory reporting (Centers for Disease
Control and Prevention (CDC), 2019).
Epidemiological Analysis
What: Occurrence of PV, a rare blood disorder that affects the bone marrow. It is
characterized by exponential proliferation of RBC, WBC and platelets. In majority of the
cases, exponential proliferation of RBC is registered and thus the disease is also popularly
known as erythrocytosis (too many red blood cells) (National Organization for Rare
Disorders USA, 2019)
Who: Men are more vulnerable to PV compared to women. Mainly adults over the
age of 60 years are vulnerable to the disease development. This disease is rare among
individuals who are 30 years old and younger. Socio-economic determinants of health
(SDHs) are not directly associated with the disease development. The main reason behind this
is, the principal driving factors for the disease development is genetic mutation. Genetic
mutation falls under the section of the non-modifiable risk factors and thus can never be
influenced by the SDH (National Organization for Rare Disorders USA, 2019)
Where: This blood disorder is rare, only 22 out of 100,000 people are affected in the
USA and the percentage is even lower in Texas (2 out of 100,000 people) (National
Organization for Rare Disorders USA, 2019)

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When: The disease mainly occurs among older adults 60 years and above due to
genetic mutation (single gene) in the somatic cell line (National Organization for Rare
Disorders USA, 2019)
Why: This disease is not transmissible and thus does not fall under the section of
mandatory reporting (National Organization for Rare Disorders USA, 2019)
Screening and Guidelines
Diagnosis of PV is done using the World Health Organization’s guidelines for disease
assessment. It is based on comprehensive assessment of the clinical and laboratory features.
The main surveillance guideline includes detection of the JAK2 mutation status and checking
the level of serum erythropoietin (Epo) (Raedler, 2014). In the presence of subnormal level of
serum Epo and absence of JAK V617F mutation, additional mutational analysis must be
conducted for JAK2 exon 12 mutation to identify patients with PV but having no JAK2
V617F mutation. This is mainly a rare case of disease. Conduction of assessment of the bone
marrow is not essential for the diagnosis of the disease. However, patients who fulfill the
overall criteria for diagnosis for PV might exhibit a substantial fibrosis of bone marrow
(Raedler, 2014). Major and minor criteria that are used for the surveillance and diagnosis of
PV are enlisted in the table below. The table follow WHO guidelines for the assessment of
PV among the mass.

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(Source: Raedler, 2014)
The guidelines published by the Centers for Cancer Care Blood Disorders (2019)
states that initial screening of PV can be undertaken by visualizing the signs and symptoms
and this will be followed by routine blood tests. If the results of the blood tests fail to match
the normal parameters, further tests like bone marrow tests are undertaken for confirmation.
The main physical signs and symptoms that are given importance for screening of PV include
enlargement of the spleen, red coloration of the skin, and bleeding of the gums. If the blood
tests confirm that, the person is having PV, the next step of screening includes detection of
primary or secondary type of PV. People having primary PV, will have very low levels of
erythropoietin protein (EPO) and people having secondary PV, will have normal to high
levels of EPO.
The guidelines for screening PV as enlisted under the Centers for Cancer Care Blood
Disorders (2019) includes conduction of a complete blood test. The complete blood count
tests will show higher level of RBC, WBC and platelets. High level of blood corpuscles in the
blood will indicate possible chances of hematological anomalies and thus indicating the

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presence of PV. This will be followed by the confirmation of PV by testing the EPO markers.
Showing higher or lower levels of EPO in the blood will be followed by bone marrow tests or
genetic test for the detection of the mutation in the JAK2 gene. It is the last and confirmatory
tests used for the detection of PV.
Epo diagnosis for PV confirmatory through blood test
PV is diagnosed by testing the blood levels of Epo hormone along with the
conduction of the genetic testing in order to detect the mutation of JAK2 or TET2. Epo is a
hormone, released from the kidneys and thus helps to control the proliferation of the RBC
from the hematopoietic stem cells or progenitor cells. The pathological test that can be used
for the detection of PV while having a cost-effective outcome include detection of the level
of Epo in blood. In case of PV, there are higher levels of RBC in blood and this induces
feedback inhibition of the secretion of Epo from the kidneys (Lupak et al., 2020). People with
PV have mutated gene that produce large number RBC and this is further reflected with the
lower levels Epo in blood. The conduction of blood test for the detection of Epo level is cost-
effective in comparison to the genetic testing and bone-marrow testing. Moreover, bone
marrow testing is more painful compared to blood testing. The predictive value of blood test
is however low in comparison to the genetic testing, as low levels of Epo could be
contributed by renal impairment as well (Lupak et al., 2020). Silver and Krichevsky (2019)
stated that distinguishing essential thrombocytopenia JAK2V617F from PV is complex due
to the shared level of mutation and other phenotypic (observable) characteristics. The
regulations highlighted by WHO mainly promote the detection of hemoglobin and hematocrit
in the blood, but the sensitivity of these tests is low. Moreover, the count of RBC fails to
indicated the actual red cell mass in the body and thus creating a barrier in discriminating
JAK2V617F from PV. In such cases bone marrow biopsies are given primary importance in
order to increase the level of diagnostic accuracy.

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Role of nurse practitioners
Primary interventions: Primary intervention include screening of patients with PV
the size of the spleen in order to ascertain the severity of the disease and this will be followed
by proper maintenance of diet and other healthy lifestyle activities so that the body can
withstand treatments with chemo-therapeutic drugs. Along with this, nursing professionals
can use aspirin for pain management arising from painful red/blue finger syndrome (Silver &
Krichevsky, 2019). Outcome measurement: Having a positive state of mind for the
undertaking of complex course of therapy
Secondary interventions: Under the secondary treatment settings venesection
procedure used for the removal of additional blood to reduce the escalating blood count. It
would be the duty of the nursing professionals (NPs) to check the blood fluid volume, blood
pressure, and pulse rate along with verification of the blood count before the venesection
procedure. This will help to avoid further complications associated with unwanted blood loss
and dehydration (Fowlkes et al., 2018). Outcome measurement: No signs of dehydration
Tertiary interventions: One of the popular treatments for PV includes administration
of hydroxyurea and myelo-suppressive drugs. This drug helps to reduce high platelet count to
prevent blood clots. The nursing professional (NP) must regulate the platelet count to avoid
chances for low platelet count as in such cases, there might be problem with blood clotting
even for minor wounds (Fowlkes et al., 2018). Outcome measurement: Maintenance of
normal platelet count.
Health policy advocacy in this case is obtaining an informed consent from the patient
before initiation of any therapy. This ensures observance of autonomy of care (American
Society of Gene and Cell Therapy, 2020).

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Conclusion
Thus, from the above discussion, it can be stated that PV is a genetic disorder related
to single gene mutation. It is a rare disease that is common among males. Blood test for the
detection of Epo can be regarded as a cost-effective tool for the detection of PV compared to
genetic testing. Proper implementation of nursing interventions like monitoring of patient’s
vital signs and blood work, upliftment of morale, and helping patient to maintain healthy
lifestyle are interventions that may help with effective disease management.

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References
American Society of Gene and Cell Therapy. (2020). Advocacy and Public Policy. Retrieved
from: https://www.asgct.org/advocacy
Centers for Disease Control and Prevention (CDC). (2019). Publications, Data, &
Statistics.Retrieved from:
https://www.cdc.gov/healthywater/statistics/surveillance/notifiable.html
Fowlkes, S., Murray, C., Fulford, A., De Gelder, T., & Siddiq, N. (2018). Myeloproliferative
neoplasms (MPNs)– Part 2: A nursing guide to managing the symptom burden of
MPNs. Canadian Oncology Nursing Journal, 28(4), 276.
Lupak, O., Han, X., Xie, P., Mahmood, S., Mohammed, H., & Donthireddy, V. (2020). The
role of a low erythropoietin level for the polycythemia vera diagnosis. Blood Cells,
Molecules, and Diseases.
National Center for Advancing Translational Sciences. (2020). Polycythemia vera. Retrieved
from: https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera
National Organization for Rare Disorders USA, (2019). Polycythemia Vera. Retrieved from:
https://rarediseases.org/rare-diseases/polycythemia-vera/
Ozkaraman, A., Babadag, B., & Tuna, H. I. (2016). Nursing Care in Polycythemia Vera: A
review article. J Pat Care, 2(121), 2.
Raedler, L. A. (2014). Diagnosis and management of Polycythemia Vera: Proceedings from a
multidisciplinary roundtable. American Health &Drug Benefits, 7(3), 36.
Silver, R. T., & Krichevsky, S. (2019). Distinguishing Essential Thrombocythemia
JAK2V617F from Polycythemia Vera: Limitations of erythrocyte
values. Hematologica, 104(11), 2200-2205.

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Spivak, J. L. (2018). Polycythemia Vera. Current treatment options in oncology, 19(2), 12.
Tefferi, A., & Barbui, T. (2017). Polycythemia Vera and Essential Thrombocythemia:
2017 update on diagnosis, risk‐stratification, and management. American Journal of
hematology, 92(1), 94-108.
Tefferi, A., & Barbui, T. (2019). Polycythemia Vera and Essential Thrombocythemia: 2019
update on diagnosis, risk‐stratification and management. American Journal of
hematology, 94(1), 133-143.
U.S. National Library of Medicine. (2019). Polycythemia Vera. Retrieved from:
https://ghr.nlm.nih.gov/condition/polycythemia-vera#statistics