Polycythemia Vera Presenting With Normal Hemoglobin and Hematocrit: A Rare Variant

Abstract

Polycythemia vera (PV) is a myeloproliferative neoplasm, and its diagnosis requires elevated hemoglobin level (>16.5 mg/dL in men and >16 mg/dL in women), bone marrow characteristics of PV (hypercellularity for age with trilineage growth), and presence of JAK2 (Janus kinase 2) mutations or subnormal erythropoietin level if JAK2 mutation is not present. There exists a subset of patients with normal hemoglobin and hematocrit due to either from dilution of the blood or from coincidental blood loss anemia but these patients still might have underlying PV. These patients have masked PV, which is a variant of overt PV. We present a case of masked PV presenting with venous thrombosis as a first presentation and with normal blood counts. A 42-year-old male with past medical history of portal vein thrombosis and portal hypertension presented with nausea and vomiting presumably secondary to viral gastroenteritis. He was not an alcoholic nor a smoker. He was diagnosed with portal vein thrombosis six years ago which was treated with warfarin but was never investigated for a cause. His physical exam was within normal limits except he had splenomegaly. His laboratory values on admission showed hemoglobin of 14.1 g/dL, white blood count of 7.4 x10(9)/L, and platelet count of 164 x10(9)/L. His liver function test and renal function tests were within normal limits. His viral gastroenteritis improved within 48 hours. Extensive workup to rule out myeloproliferative neoplasm, thrombophilia, antiphospholipid syndrome, and paroxysmal nocturnal hemoglobinuria was arranged. Final results revealed JAK2V617F genetic mutation with a subsequent bone marrow analysis revealing a hypercellular marrow with increased trilineage hematopoiesis, consistent with primary PV. It is rare for myeloproliferative neoplasms to present with normal blood counts. There is a subgroup of patients with JAK2-positive PV presenting with normal hemoglobin and hematocrit. The prognosis of these subgroups seems to be poor especially when present in the older age group and with associated leukocytosis. Our case emphasizes two important points: first, need for extensive workup in a patient with unusual site thrombosis including JAK2 analysis and second, investigating for myeloproliferative neoplasm if presented with thrombosis even with normal blood counts.