Liane Chlus & Christina Riggall
State University of New York Institute of Technology
Myeloproliferative clonal disorder marked by
increased production of red blood cells
(erythrocytosis) with excessive erythroid,
myeloid, and megakaryocytic elements in the
bone marrow.
Morbidity and mortality are primarily related to
complications from blood hyperviscosity as well
as malignant transformation.
Synonym (s): primary polycythemia; Vaquez
disease; Polycythemia, splenomegalic; vaquezOsler disease
Domino, 2014
Pathophysiology
Relative Polycythemia
Decrease in plasma volume while the total number
of circulating erythrocytes remains the same
Almost always caused by dehydration
Acute dehydration: vomiting, burns, crushing-type
injuries and fevers
Chronic dehydration: decreased oral fluid intake,
cigarette smoking, long-term use of diuretics
(Dunphy, Winland-Brown, Porter & Thomas, 2011)
Pathophysiology
Absolute Polycythemia
The actual numbers of circulating erythrocytes are
increased with increase in measured RBC
Primary: chronic myeloproliferative disorder caused by
an abnormally dividing pluripotential stem cell that leads
to a clonal erythrocytosis that is erythropoietin
independent, as well as a variable leukocytosis and
thrombocytosis.
Secondary: chronic hypoxia, carboxyhemoblobinemia,
Cushing’s syndrome, chronic corticosteroid use,
erythropoietin-secreting tumors, and cardiopulmonary
diseases.
(Dunphy, Winland-Brown, Porter & Thomas, 2011)
Unknown but thought to originate in a single
clone
Clonal proliferative disorder commonly
associated with JAK2 V617F mutation
Genetics:
JAK2V617F (tyrosine kinase mutation: Prevalance of
95 – 99%; is helpful in differentiating from
secondary polycythemia. Homozygote carriers will
have higher incidence of symptoms, such as
pruritus, but will not have higher incidence of
disease than heterozygotes.
(Dunphy, Winland-Brown, Porter & Thomas, 2011 and Domino, 2014)
Predominant age: Middle to late years; mean is
60 years (range 15-90 years)
Predominant sex: Male>Female (slightly)
Incidence in the US: 1.9/100,000 person-year
Domino, 2014
Ashkenazi Jewish ancestry (may have increased
frequency)
Familial history (rare)
Domino, 2014
Patients may be asymptomatic or present with
nonspecific complaints, such as fatigue, malaise,
and subjective weakness, in early stages
Erythromelalgia (burning pain of feet/hands,
occasionally with erythema, pallor, cyanosis, or
paresthesias)
Spontaneous bruising/bleeding
Bone pain (ribs and sternum)
Peptic ulcer disease (due to alterations in gastric
mucosal blood flow)
Domino, 2014
Pruritus after bathing
Cerebral circulation impairment
Headache
Tinnitus
Dizziness
Visual disturbance
Transient Ischemic Attack symptoms
Paresthesias
Other associated symptoms
Weight Loss, Diaphoresis, Weakness, Fatigue
(Dunphy, Winland-Brown, Porter & Thomas, 2011)
Bone tenderness (ribs and sternum)
Splenomegaly
Hepatomegaly
Facial plethora
Skin excoriations if significant pruritus
Gouty tophi or arthritis
Hypertension
Domino, 2014
Secondary polycythemias
Hemoglobinopathy
Ectopic erythropoietin production
Chronic myeloid leukemia
Myelofibrosis
Essential Thrombocytosis
Domino, 2014
Primary Polycythemia
Secondary Polycythemia
Chronic myeloproliferative
disease
Tobacco abuse
Renal Cell Carcinoma
Chronic heart or lung disease
Methemoglobinemia
Living at high altitude
Hydronephrosis
Anabolic Steroid secreting
tumor
Erythropoietin secreting tumor
Decreased plasma volume
(e.g. dehydration)
(Dunphy, Winland-Brown, Porter & Thomas, 2011)
Exclude secondary causes of increased RBC Count
Lab Test:
CBC:
Primary
 HCT: >60% men/
>55% women
 Elevated RBC
 WBC: between
10,000 and 20,000
 Platelet elevated:
may exceed 1 million
cells
Secondary




Elevated RBC
HCT may not be > 55 to 60%
WBC lower
Platelet counts lower
(Dunphy, Winland-Brown, Porter & Thomas, 2011)
Other Test to be performed:
Bone Marrow biopsy: Definitive diagnosis of
polycythemia vera
Serum Erythropoietin: low in polycythemia vera and
high in secondary polycythemia
(Dunphy, Winland-Brown, Porter & Thomas, 2011 & Passamonti, 2012)
Avoid high altitudes
Alternate rest periods and activity
Use electric razor: prevent accidental cuts
Be aware of surrounding: minimize falls
Quit Smoking/avoid second hand smoke
(Diseases, 2009)
Goal: Keep Hematocrit below threshold
White men: Hematocrit <45%
Black patients and all women: Hematocrit <42%
Age Under 60 Years
Low or intermediate risk patients
Repeated phlebotomy
Interferon alfa-2b
Low dose Aspirin ( platelet count <150 x 10^3/uL)
High risk patients
Low or Intermediate Risk Management options (above)
Hydroxyurea
Busulfan
(Moses, 2014)
High Risk Patients over age 60 years
Repeated phlebotomy
Low dose Aspirin
Hydroxyurea
Busulfan
Women of child bearing age
Low or intermediate risk patients
Repeated Phlebotomy
Low Dose aspirin (platelet count <150 x 10^3/uL)
High Risk patients
Low or Intermediate Risk Management options (above)
Interferon alfa-2b
Bisulfan
(Moses, 2014)
Phlebotomy is completed removing 250-500 mL
of blood daily or every other day until HCT is
between 40-45%
In the elderly or people with cardiovascular
disease 200-300mL is removed twice a week
After therapeutic level is reached, an H&H
should be drawn every 4-8 weeks and
subsequent treatments as needed.
Barbui, T., Finazzi, M., & Finazzi, G., 2012
Pruitius
Antihistamines
Paroxetine
Oatmeal bath
Interferon alfa-2b
Prognosis: median survival in symptomatic
patients
Survival without treatment: 6 – 18 Months
Survival with treatment: >10 years
(Moses, 2014)
Uric acid stones
Scondary gout
Vascular thrombosis (major cause of death)
Transformation to leukemia
Transformation to myelofibrosis
Hemorrhage
Peptic ulcer
Increased risk for complications and mortality from
surgery procedures. Assess risk/benefits and ensure
optimal control of disorder before any elective
surgery
(Dunphy, Winland-Brown, Porter & Thomas, 2011)
Patient Monitoring
Frequent monitoring during early treatment until target
hematocrit is reached
Monitor hematocrit often and phlebotomize, as needed,
to maintain target goal.
Diet
Avoid iron supplements.
Patient Education
Stress the importance of lifelong maintenance.
Continuous education regarding possible complications
and importance of seeking treatment early should
complications appear
Domino, 2014
Absolute polycythemia reduces the lifespan,
because of the risk of thrombosis
Strict adherence to the treatment regimen is
important
Patient should be aware of the signs and
symptoms of DVT/PE, MI.
Smoking cessation should be encouraged,
patients who smoke have a much higher risk of
arterial thrombotic event
(Dunphy, Winland-Brown, Porter & Thomas, 2011 and Barbui, T., Finazzi, M., & Finazzi, G., 2012)
Refer to hematologist: for recommendations
and co-management
Depending on CT/MRI results may need surgeon
Carboxyhemoglobin levels noted may need
pulmonologist
Women who want to get pregnant may need
referral to a high-risk perinatal center
(Dunphy, Winland-Brown, Porter & Thomas, 2011)
1. Polycythemia is an increase in the production
of:
A.
B.
C.
D.
Complete Blood Count
Red Blood Count
White Blood Count
Differential Count
B
2. Which mutation is commonly associated with
Polycethemia
A.
B.
C.
D.
PKU6V2JAK
RQM12
JAK2V617F
JKP6
C
3. The incidence of Polycythemia in the US is
A.
B.
C.
D.
1.9/100,000 persons
2.9/100,000
3.9/100,000
8.9/100,000
A
4. Which of the follow is a risk factor for Polycythemia
A.
B.
C.
D.
African American
Mexican
Latino
Ashkenazi Jewish ancestry
D
5. Which of the following is not a clinical finding of
Polycythemia
A.
B.
C.
D.
Tinnitus
Visual disturbance
Weight loss
RLQ pain
D
6. On physical exam you may observe all of the
following except
A.
B.
C.
D.
Splenomegaly
Gouty tophi or arthritis
Hypertension
Hypotension
D
7. Secondary polycythemia includes
A.
B.
C.
D.
Daily Exercise
Tobacco abuse
Vegetarian diet
Drinking 64oz water daily
B
8. Hematocrit goal for management of a white
man would include
A.
B.
C.
D.
Hematocrit >25%
Hematocrit <45%
Hematocrit >52%
Hematocrit <55%
B
9. The test results which are used for definitive
diagnosis of polycythemia vera
A.
B.
C.
D.
Bone Marrow Biopsy
CBC
CT
MRI
A
10. What dietary advice is recommended
A.
B.
C.
D.
Avoid Vitamin D
Avoid Calcium supplement
Avoid Iron Supplement
Take daily Iron Supplement
C
1. B: In diagnosing polycythemia, ordering a CBC will reveal an increase in
RBC mass.
2. C: In helping to differentiate between primary and secondary
polycythemia, genetics could be tested and would result in a JAK2V617F
mutation.
3. A: According to Dunphy, Winland-Brown, Porter & Thomas (2011), the
incidence of polycythemia in the US is 1.9/100,000person-year.
4. D: Being of Ashkenazi Jewish ancestry may have an increased frequency
to develop polycythemia (Dunphy, Winland-Brown, Porter & Thomas, 2011).
5. D: RLQ pain is not a clinical finding of polycythemia.
6. D: Hypotension will not likely be observed during the physical exam to
diagnose polycythemia
7. B: Tobacco abuse is a cause of secondary polycythemia.
8. B: The goal of treatment for a white male is the Hematocrit <45%.
9. A: The definitive diagnosis of polycythemia is a bone marrow biopsy.
10. C: It is recommended to avoid Iron supplement if you have a diagnosis of
polycythemia (Dunphy, Winland-Brown, Porter & Thomas, 2011).
(2009). Diseases. (2nd ed., pp. 638-641). Ambler: Lippincott Williams & Wilkins.
Antle, E. (2010). Who Needs a Therapeutic Phlebotomy?. Clinical Journal Of Oncology Nursing, 14(6), 694-696.
doi:10.1188/10.CJON.694-696
Barbui, T., Finazzi, M., & Finazzi, G. (2012). Front-line therapy in polycythemia vera and essential thrombocythemia. Blood
Reviews, 26(5), 205-211. doi:10.1016/j.blre.2012.06.002
Domino, F.J. (2014). The 5-Minute Clinical Consult.. (22nd ed). Philadelphia: Lippincott, Williams & Wilkins.
Dunphy, L., Winland-Brown, J., Porter, B., & Thomas, D. (2011). Primary Care The Art and Science of Advanced Practice
Nursing. (3rd ed., pp. 927-931). Philadelphia: F.A.Davis Company.
Harrison, C. (2010). Rethinking disease definitions and therapeutic strategies in essential thrombocythemia and polycythemia
vera. Hematology / The Education Program Of The American Society Of Hematology. American Society Of
Hematology. Education Program, 2010129-134. doi:10.1182/asheducation-2010.1.129
Khan, F., Khan, R., Iqbal, M., & Hussain, S. (2012). Polycythemia vera: Essential management protocols. Anaesthesia, Pain &
Intensive Care, 16(1), 91-97.
Marchioli, R., Finazzi, G., Specchia, G., Cacciola, R., Cavazzina, R., Cilloni, D., & ... Rapezzi, D. (2013). Cardiovascular Events and
Intensity of Treatment in Polycythemia Vera. New England Journal Of Medicine, 368(1), 22-33.
doi:10.1056/NEJMoa1208500
Moses, S. (2014). Polycythemia rubra vera. Retrieved from http://fpnotebook.com/HemeOnc/Marrow/PlycythmRbrVr.htm
National Heart, Lung and Blood Institute. (2011). What is polycythemia vera? Retrieved from
http://www.nhlbi.nih.gov/health/health-topics/topics/poly/
Passamonti, F. (2012). How to manage polycythemia vera. Leukemia (08876924), 26(5), 870-874. doi:10.1038/leu.2011.334
Reikvam, H., & Tiu, R. (2012). Venous thromboembolism in patients with essential thrombocythemia and polycythemia vera.
Leukemia (08876924), 26(4), 563-571. doi:10.1038/leu.2011.314