POLYCYTHEMIA VERA

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

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

DIAGNOSTIC CRITERIA

DIAGNOSTIC CRITERIA

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

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

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

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

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