JAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit)

Abstract

Summary This case report focuses on a 71-year old patient affected by unknown dyspnea and erythrocytosis referred by his general practitioner to our center for specialist advice after a hematological examination had excluded polycythemia vera on grounds of negative test for JAK2 V617F/exon 12 mutation. An accurate clinical history and physical examination accompanied by respiratory function tests resulted in diagnosis of JAK2 V617F mutation negative erythrocytosis, and treatment could be started. The discussion examines decisional algorithms when a polyglobulic patient is referred for diagnosis.

Keywords

• Dyspnea
• erythrocytosis
• JAK2 V617F
• polycythemia
• pulmonary function tests