JAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit)
JAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit)
Authors
Luca Zito
1SSD Laboratorio di Fisiopatologia Respiratoria e Centro Disturbi Respiratori nel Sonno, Dipartimento Fisiopatologia Cardio-Respiratoria, AOU S. Luigi, Orbassano (TO)
Roberto Torchio
SSD Laboratorio di Fisiopatologia Respiratoria e Centro Disturbi Respiratori nel Sonno, Dipartimento Fisiopatologia Cardio-Respiratoria, AOU S. Luigi, Orbassano (TO),
Kassem Bannout
Scuola di specializzazione in Malattie Apparato Respiratorio, Università di Torino,
Marco Guglielmo
SSD Laboratorio di Fisiopatologia Respiratoria e Centro Disturbi Respiratori nel Sonno, Dipartimento Fisiopatologia Cardio-Respiratoria, AOU S. Luigi, Orbassano (TO),
CLAUDIO Ciacco
SSD Laboratorio di Fisiopatologia Respiratoria e Centro Disturbi Respiratori nel Sonno, Dipartimento Fisiopatologia Cardio-Respiratoria, AOU S. Luigi, Orbassano (TO)
Donatella Lodico
SSD Laboratorio di Fisiopatologia Respiratoria e Centro Disturbi Respiratori nel Sonno, Dipartimento Fisiopatologia Cardio-Respiratoria, AOU S. Luigi, Orbassano (TO)
Dyspnea, erythrocytosis, JAK2 V617F, polycythemia, pulmonary function tests
Abstract
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.
Zito L, Torchio R, Bannout K, et al. JAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit). Multidiscip Respir Med. 2019;6(1). doi:10.4081/mrm.2011.446
