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Multidiscip Respir Med. 2011 Aug 31;6(4):242-6. doi: 10.1186/2049-6958-6-4-242.

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

Multidisciplinary respiratory medicine

Luca Zito, Roberto Torchio, Kassem Bannout, Stefano Ulisciani, Marco Guglielmo, Claudio Ciacco, Donatella Lodico

Affiliations

  1. SSD Laboratorio di Fisiopatologia Respiratoria e Centro Disturbi Respiratori nel Sonno, Dipartimento Fisiopatologia Cardio-Respiratoria, AOU S, Luigi, Orbassano (TO), Italia. [email protected].

PMID: 22958502 PMCID: PMC3463076 DOI: 10.1186/2049-6958-6-4-242

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.

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