Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics
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...
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| Format: | Article |
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Wiley
2016-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2016/6373706 |
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| author | Rachel Wilson Nausheen Syed Prabodh Shah |
| author_facet | Rachel Wilson Nausheen Syed Prabodh Shah |
| author_sort | Rachel Wilson |
| collection | DOAJ |
| description | 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.(Trp334⁎) (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. |
| format | Article |
| id | doaj-art-ecd5ef2fb0da4b50945a57355b71e30a |
| institution | OA Journals |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-ecd5ef2fb0da4b50945a57355b71e30a2025-08-20T02:22:06ZengWileyCase Reports in Hematology2090-65602090-65792016-01-01201610.1155/2016/63737066373706Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and GeneticsRachel Wilson0Nausheen Syed1Prabodh Shah2Chicago Medical School, North Chicago, IL, USAChicago Medical School, North Chicago, IL, USALittle Company of Mary Hospital, Evergreen Park, IL, USAThe 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.(Trp334⁎) (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.http://dx.doi.org/10.1155/2016/6373706 |
| spellingShingle | Rachel Wilson Nausheen Syed Prabodh Shah Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics Case Reports in Hematology |
| title | Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics |
| title_full | Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics |
| title_fullStr | Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics |
| title_full_unstemmed | Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics |
| title_short | Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics |
| title_sort | erythrocytosis due to phd2 mutations a review of clinical presentation diagnosis and genetics |
| url | http://dx.doi.org/10.1155/2016/6373706 |
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