Cholelithiasis as the presenting feature of polycythemia vera: An extremely rare case report

Abstract

Polycythemia vera (PV) is a JAK2-mutated myeloproliferative neoplasm that typically presents with erythrocytosis
related symptoms or thrombotic events. Usually, it presents at the age of 40–60 years, and the majority are in 
females. Gallstone disease, though common in older women, is an exceedingly uncommon initial manifestation 
of PV. We describe a 63-year-old postmenopausal female with congenital talipes equinovarus who presented with 
intermittent right upper quadrant abdominal pain and was found to have cholelithiasis and hepatosplenomegaly on ultrasonography. Routine laboratory tests revealed persistently elevated hemoglobin and hematocrit with suppressed serum erythropoietin (EPO), and subsequent JAK2 V617F testing confirmed PV. This case illustrates how a common gastrointestinal complaint may unmask an extremely rare occurrence of an underlying hematological malignancy, PV, which was otherwise silent, emphasizing the need for thorough evaluation of unexplained erythrocytosis in patients presenting with otherwise typical biliary pathology.