VEXAS Syndrome Clinical Features and Treatment Outcomes in a Chinese Cohort of 16 Patients

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Frontiers in Medicine Published April 16, 2026 Medically reviewed April 25, 2026 DOI ↗ By Dr. Amelia Tan, PhD · Internal Medicine & Chronic Disease

Key Takeaway

Consider VEXAS in patients with cytopenia regardless of systemic symptoms; evidence is limited to single-center cohort.

This retrospective cohort study conducted at a Chinese academic hospital included 16 patients with hematological abnormalities, including VEXAS syndrome, CCUS, MDS, MGUS, primary myelofibrosis, and hemolysis-like disorder. The publication type is listed as a case series. The population consisted exclusively of Chinese patients. The study design was noted as a cohort.

Anemia and lymphopenia were present in all 16 patients. Constitutional symptoms and typical autoinflammation-associated multiorgan involvement were present in most patients, representing 69% or 11/16 cases. Typical vacuoles in myeloid and erythroid progenitors were found in 68.8% or 11/16 patients. Canonical UBA1 pathogenic variants were detected in 81.3% or 13/16 patients. The dominant mutation was p.M41V, with infrequent variants including c.118-1G>C, p.S56P, and p.S621C. These findings highlight specific pathological features observed in the cohort.

Patients received corticosteroids, immunosuppressants, androgens, and erythropoiesis-stimulating agents. Symptomatic relief was provided by corticosteroids and immunosuppressants. Hematologic responses were variable with androgens and erythropoiesis-stimulating agents. Safety data regarding adverse events, serious adverse events, discontinuations, and tolerability were not reported in the input. No safety signals were documented.

Key limitations include the single-center setting, retrospective analysis, and restriction to a Chinese population. Practice relevance suggests VEXAS should be considered in those with cytopenia, regardless of systemic symptoms or multiorgan involvement. Increased awareness among hematologists is critical to facilitate early diagnosis via UBA1 testing. Generalizability may be limited by these factors.

Study Details

Study typeCohort

EvidenceLevel 3

PublishedApr 2026

View Original Abstract ↓

ObjectivesVEXAS syndrome is a recently characterized hemato-inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene in hematopoietic cells, which remains poorly characterized in Chinese populations. This study aims to address this gap.MethodsWe retrospectively analyzed 4512 consecutive patients with hematologic abnormalities at a Chinese academic hospital between June 2023 and July 2024, identifying 16 male VEXAS patients (median age 61.5 years, range 30-74).ResultsAll patients presented with anemia and lymphopenia, with or without neutropenia and thrombocytopenia. Diagnoses included CCUS, MDS, MGUS, as well as novel phenotypes of primary myelofibrosis and a hemolysis-like disorder. Most patients (11/16, 69%) exhibited constitutional symptoms and typical autoinflammation-associated multiorgan involvement, including skin lesions, ear chondritis, pulmonary infiltration, and deep vein thrombosis, etc. Hypercellular bone marrow was commonly seen in core biopsies and 11 patients (68.8%) exhibited typical vacuoles in myeloid and erythroid progenitors. Canonical UBA1 pathogenic variants were detected in 81.3% (13/16) of patients, with p.M41V being the dominant mutation. Three infrequent variants were also identified: c.118-1G>C, p.S56P, and p.S621C. Corticosteroids and immunosuppressants commonly provided symptomatic relief, while variable hematologic responses were achieved with androgens and erythropoiesis-stimulating agents.ConclusionsAs a relatively large cohort of VEXAS syndrome characterizing Chinese patients, our findings demonstrate that VEXAS should be considered in those with cytopenia, regardless of systemic symptoms or multiorgan involvement. Increased awareness among hematologists is critical to facilitate early diagnosis via UBA1 testing. This can prevent unnecessary diagnostic procedures and guide appropriate treatment, including consideration of pre-emptive stem cell transplantation.