Primary familial and congenital polycythemia caused by EPOR gene mutation: two cases report and literature review
10.3760/cma.j.cn121090-20250320-00144
- VernacularTitle:EPOR基因变异致原发性家族性和先天性红细胞增多症2例报告并文献复习
- Author:
Daohua NING
1
;
Meng JIAO
;
Li QIN
;
Qingyan GAO
;
Lijuan PAN
;
Shiqiang QU
;
Bing LI
;
Zefeng XU
;
Qing LENG
;
Zhijian XIAO
;
Tiejun QIN
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所），实验血液学国家重点实验室，国家血液系统疾病临床医学研究中心，细胞生态海河实验室，天津 300020
- Publication Type:Journal Article
- From:
Chinese Journal of Hematology
2025;46(11):1071-1074
- CountryChina
- Language:Chinese
-
Abstract:
In this paper, two cases of primary familial and congenital polycythemia (PFCP) were reported, and the literature was reviewed. PFCP is a rare autosomal dominant inherited disease caused by a gain-of-function mutation in the EPOR gene, resulting in a loss of negative regulation of erythrocyte proliferation. The two patients were young women with simple polycythemia and clear family history, and identified to carry the truncated mutation c.1316G>A (p.W439*) of EPOR gene. At present, there is no unified treatment plan for PFCP. Currently, there is no standardized treatment for PFCP; management primarily aligns with guidelines for polycythemia vera, focusing on preventing thrombotic complications. This article discusses the clinical features of PFCP, EPOR gene mutations, and their pathogenic mechanisms, while providing diagnostic and therapeutic recommendations based on existing literature.
