![]() |
Case Report
1 Third Year Medical Student, West Virginia School of Osteopathic Medicine, Lewisburg, West Virginia, USA
Address correspondence to:
Timothy Hall
400 Lee St., Lewisburg, WV 24901,
USA
Message to Corresponding Author
Article ID: 100103Z10TH2022
Introduction: Chuvash polycythemia is a rare autosomal recessive hypoxia-sensing disease and is characterized by increased serum erythropoietin and red blood cells. Although it is relatively more common in the Chuvashia Republic of the Russian Federation, cases have been occurred worldwide.
Case Report: The case reported here is a 53-year-old male who presented with unprovoked left lower extremity deep vein thrombosis (DVT). After excluding other hypercoagulative and myeloproliferative disorders, the diagnosis of Chuvash polycythemia was confirmed by locating the VHL P81S mutation. The DVT was treated and other malignant syndromes were ruled out.
Conclusion: Chuvash polycythemia can present similarly to other myeloproliferative diseases, like polycythemia vera. However, treatment modalities, like phlebotomy and chemotherapy, used for those diseases were not needed in this case of Chuvash polycythemia. Careful monitoring and prevention of possible thrombotic events may be enough to manage such patients.
Keywords: Chuvash, Erythrocytosis, Hypoxia, Polycythemia, Thrombotic
The author would like to thank the patient and Dr. Damian Silbermins for providing the information needed for this manuscript.
Author ContributionsTimothy Hall - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthor declares no conflict of interest.
Copyright© 2022 Timothy Hall. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.