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Case Reports in Hematology
Volume 2016 (2016), Article ID 6373706, 8 pages
Case Report

Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics

1Chicago Medical School, North Chicago, IL, USA
2Little Company of Mary Hospital, Evergreen Park, IL, USA

Received 8 November 2015; Revised 8 February 2016; Accepted 10 February 2016

Academic Editor: Stephen Langabeer

Copyright © 2016 Rachel Wilson et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The association of mutations in the PHD2 protein of the hypoxia-sensing pathway and erythrocytosis has only been established in the last decade. Here we report the case of a novel PHD2 gene mutation in a patient with erythrocytosis and summarize all reported cases to date. Case Report. A 55-year-old man presented with dyspnea and a previous diagnosis of idiopathic erythrocytosis. PHD gene sequencing revealed a mutation on exon 2. The mutation was recognized as p.(Trp) (c. 1001G>A) resulting in a truncation of a highly conserved amino acid residue in catalytic domain. A diagnosis of erythrocytosis secondary to mutant PHD2 gene was made. Conclusions. Our findings indicate that with PHD2 mutations there is moderate erythrocytosis and erythropoietin (Epo) levels are generally low to normal. Two patients with PHD2 substitution mutations were found to have paraganglioma and one of these patients had a concurrent pheochromocytoma. In addition, one mutation was associated with sagittal sinus thrombosis. Given the severity of some of the clinical features of these mutations, we conclude that clinical guidelines should include the PHD2 mutation in the idiopathic erythrocytosis workup.