Ciprian Giulio
Internal Medicine, Roger Williams Medical Center, Providence, USA.
Cureus. 2022 Mar 24;14(3):e23456. doi: 10.7759/cureus.23456. eCollection 2022 Mar.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare genetic disorder originating from a somatic mutation in the hematopoietic stem cells. This syndrome was first described in 2020 and carries many clinical features that other conditions cannot explain. Widespread autoinflammation is the primary process the disease presents, with high morbidity and mortality in those who show signs of bone marrow failure. Treatment is complex, and response to current therapies is poor. Long-term prognosis carries a mortality of 50%. In addition, the advancement of new-generation messenger ribonucleic acid (mRNA) vaccines raises concerns about their safety in this population since it could trigger a vaccine-related autoimmune response. This case describes the hospital course of a male in his 50s exhibiting an unexplained cutaneous reaction to an mRNA COVID-19 vaccine. He was later diagnosed with VEXAS syndrome based on symptoms presentation and diagnostic workup.
VEXAS(空泡、E1酶、X连锁、自身炎症性、体细胞)综合征是一种罕见的遗传性疾病,起源于造血干细胞中的体细胞突变。该综合征于2020年首次被描述,具有许多其他病症无法解释的临床特征。广泛的自身炎症是该疾病呈现的主要过程,在出现骨髓衰竭迹象的患者中发病率和死亡率都很高。治疗复杂,对当前疗法的反应不佳。长期预后的死亡率为50%。此外,新一代信使核糖核酸(mRNA)疫苗的推广引发了对其在该人群中安全性的担忧,因为它可能引发与疫苗相关的自身免疫反应。本病例描述了一名50多岁男性因对mRNA新冠疫苗出现不明原因的皮肤反应而住院的过程。他后来根据症状表现和诊断检查被诊断为VEXAS综合征。