VEXAS综合征的非典型表现:一个诊断难题。

The Ulster medical journal Pub Date : 2025-04-01 Epub Date: 2025-04-30
Ankita Dash, Art O'Hagan, Kristofer Holte, John Joseph Friel, Lakshmi Venkatraman
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引用次数: 0

摘要

VEXAS综合征是近年来发现的一种罕见的自身炎症性疾病,其特征是累及多器官系统,表现为皮肤病学、血液学和风湿学。该综合征是由UBA1基因的体细胞突变引起的,导致泛素介导的蛋白质降解缺陷,从而引发一系列炎症反应。我们报告的情况下,一个76岁的男性谁提出了一个反复皮疹最初提示甜综合征。经过全面的诊断检查,包括基因检测,由于在UBA1基因中发现致病变异,患者被诊断为VEXAS综合征。本病例强调了临床医生在面对具有非特异性临床特征的罕见综合征时所面临的诊断挑战。缺乏正式的诊断标准及其与更常见的炎症和血液病的重叠使及时诊断和管理复杂化。及时识别、基因确认和早期干预对于预防疾病进展和改善VEXAS患者的预后至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An Atypical Presentation of VEXAS Syndrome: A Diagnostic Conundrum.

VEXAS syndrome is a rare and recently identified autoinflammatory disorder recently, characterized by the involvement of multiple organ systems, with manifestations in dermatology, hematology, and rheumatology. The syndrome results from a somatic mutation in the UBA1 gene, leading to defective ubiquitin-mediated protein degradation, which triggers a cascade of inflammatory responses. We report the case of a 76-year-old male who presented with a recurrent rash initially suggestive of Sweet's syndrome. Following a comprehensive diagnostic workup, including genetic testing, the patient was diagnosed with VEXAS syndrome due to the identification of a pathogenic variant in the UBA1 gene. This case highlights the diagnostic challenges clinicians face when confronting rare syndromes with nonspecific clinical features. The absence of formal diagnostic criteria and its overlap with more common inflammatory and haematologic diseases complicates prompt diagnosis and management. Timely recognition, genetic confirmation, and early intervention are critical for preventing disease progression and improving outcomes in VEXAS patient.

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