VEXAS综合征一例中的并发红细胞生成抑制

Concurrent inhibited erythropoiesis in a case of VEXAS syndrome.

作者信息

Xing Lingxiao, Liang Weiru, Li Yuan, Xiao Jigang, Li Zhanqi, Zhang Fengkui

机构信息

State Key Laboratory of Experimental Hematology, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, National Clinical Research Center for Blood Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Heping District, Tianjin, 300020, China.

Tianjin Institutes of Health Science, Tianjin, 301600, China.

出版信息

Ann Hematol. 2025 Feb;104(2):1255-1258. doi: 10.1007/s00277-024-06107-x. Epub 2024 Nov 30.

DOI:10.1007/s00277-024-06107-x

PMID:39613900

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11971054/

Abstract

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disease described by Beck et al. in 2020. Here we report a case of VEXAS syndrome with progressive worsening of pancytopenia. This patient demonstrated inhibited erythropoiesis along with normal granulopoiesis and megakaryopoiesis in the bone marrow. A diagnosis of myelodysplastic syndrome (MDS) was ruled out, while the patient presented with pure red cell aplasia (PRCA), a manifestation not previously described in the context of VEXAS syndrome. Therefore, VEXAS syndrome may also present with PRCA-like erythroid hypoplasia, which may aid in the better recognition of this disease.

摘要

空泡、E1酶、X连锁、自身炎症性、体细胞（VEXAS）综合征是2020年由贝克等人描述的一种罕见疾病。在此，我们报告一例全血细胞减少进行性加重的VEXAS综合征病例。该患者骨髓中红细胞生成受抑制，而粒细胞生成和巨核细胞生成正常。排除了骨髓增生异常综合征（MDS）的诊断，而该患者表现为纯红细胞再生障碍（PRCA），这是VEXAS综合征中以前未描述过的一种表现。因此，VEXAS综合征也可能表现为类似PRCA的红系发育不全，这可能有助于更好地识别这种疾病。