1. POLYCYTHEMIA VERA

2. EPIDEMIOLOGY MALE: 2.8 PER 100,000 FEMALE: 1.3 PER 100, 000
Source: Mayo Clinic (Williams Hematology7th ed. 2007)
M:F = 3:2
6th decade of life

3. ETIOLOGY
Somatic mutation on chromosome 9p which encodes tyrosine kinase-JAK 2
Increased expression of protein tyrosine phosphatase activity of red cell precursors
Increased mRNA levels of PRV-1 gene granulocytes

4. DIAGNOSTIC CRITERIA

5. DIAGNOSTIC CRITERIA

6. CLINICAL PRESENTATION
Insidious onset
Headache, plethora, pruritus, thrombosis, GI bleeding, gingival bleeding, weakness, dizziness and sweating
In decreasing order: Headache, weakness, pruritus, dizziness and sweating
Symptoms are manifested by atleast 30% of patients
Signs and Symptoms of Polycythemia Vera More Common
Hematocrit level > 52 percent (0.52) in white men, > 47 percent (0.47) in blacks and women
Hemoglobin level > 18 g per dL (180 g per L) in white men, > 16 g per dL (160 g per L) in blacks and women)
Plethora
Pruritus after bathing
Splenomegaly
Weight loss
Weakness
Sweating
Less Common
Bruising/epistaxis
Budd-Chiari syndrome
Erythromelalgia
Gout
Hemorrhagic events
Hepatomegaly
Ischemic digits
Thrombotic events
Transient neurologic complaints (headache, tinnitus, dizziness, blurred vision, paresthesias)
Atypical chest pain

7. PHYSICAL EXAM
Splenomegaly – Present in 75% of patients at the time of diagnosis
Hepatomegaly – Present in approximately 30% of patients with polycythemia vera (PV)
Plethora , manifests in the face, palms, nailbeds, mucosa, and conjunctiva.
Hypertension

8. LABORATORIES
CBC = inc hct, inc hgb, inc wbc – absolute neutrophilia, inc platelets , inc RBC
PERIPHERAL BLOOD SMEAR = occasional myelocytes and metamyelocytes
Blood chemistry: Uric Acid: Hyperuricemia:
TIBC = high
Ferritin = low
EPO LEVELS = normal; <5IU/L
JAK2 = mutation
BONE MARROW ASPIRATION BIOPSY = hypercellular with involvement of all myeloid lineages

9. Patient
CBC = inc hct, inc hgb, increased wbc count but with absolute neutrophilia, inc RBC, normal platelets
PERIPHERAL BLOOD SMEAR = normocytic, normochromic, neutrophilic predominance
Blood chemistry: Uric Acid: Hyperuricemia
TIBC = not done
Ferritin = not done
EPO LEVELS = not done
JAK2 = positive for mutation
BONE MARROW ASPIRATION BIOPSY = not done
Erythrocytes are out proportion with HGB and HCT especially after phlebotomy
Look at the LAB TAble

10. Patient’s Clinical Presentation
64 years old
Male
Hypertensive (diagnosed 1990)
Plethoric
Gingival bleeding
Dizziness
(+) ecchymoses on both legs
(+) Grade 2-3/6 Holosystolic murmur
(+) Bipedal edema grade 1
(-) Splenomegaly
(-) Hepatomegaly