Open AccessJAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit)
Author(s) -
Luca Zito,
Roberto Torchio,
Kassem Bannout,
Stefano Ulisciani,
Marco Guglielmo,
CLAUDIO Ciacco,
Donatella Lodico
Publication year - 2019
Publication title -
multidisciplinary respiratory medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.72
H-Index - 28
eISSN - 2049-6958
pISSN - 1828-695X
DOI - 10.4081/mrm.2011.446
Subject(s) - medicine , hematocrit , polycythemia vera , mutation , physical examination , hematology , pediatrics , jak2 v617f , genetics , biology , gene , bone marrow , myelofibrosis
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.