液泡,E1酶,X-linked,自身炎症,躯体综合征(VEXASsyndrome,VEXASsyndrome)是一种最近描述的遗传性疾病,聚集自身炎症症状和髓样发育不良.第一次描述是在2020年报道的,随后,越来越多的病例被描述在世界各地。在这里,我们描述了一例72岁的男性VEXAS综合征患者,其p.Met41Val突变为UBA1基因,突出的声门上喉部受累,和肋软骨炎。据我们所知,这是VEXAS综合征在哥伦比亚和南美洲的第一份报告.这种疾病可能呈现复发性多软骨炎的特征,结节性多动脉炎,巨细胞动脉炎,和Sweet综合征,与血液学相关,包括血细胞减少症,骨髓增生异常综合征,或者血栓栓塞性疾病.声门上喉软骨炎和肋软骨炎是不典型的表现。先前提出了这些特征以区分复发性多软骨炎与VEXAS综合征,但与所描述的病例一样,并不完全可靠。VEXAS的诊断应考虑在男性患者不完整或完整的先前描述的条件,难以治疗,需要大剂量糖皮质激素,和相关的进行性血液学异常。要点•VEXAS综合征是最近描述的遗传(UBA1基因中的体细胞突变)疾病,其聚集自身炎症和血液学表现。•VEXAS综合征应考虑男性患者的不完全或完整的复发性多软骨炎的特征,结节性多动脉炎,巨细胞动脉炎,和Sweet综合征,难以治疗,与血液学相关,包括血细胞减少症,骨髓增生异常综合征,或者血栓栓塞性疾病.•糖皮质激素有效改善症状。然而,由于缺乏证据,其他治疗方案有限.传统的免疫抑制剂和生物疗法已凭经验使用,具有有限的功效和短暂的效果。骨髓移植提供了一种治疗方法,但是它有很高的发病率和死亡率。
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is a recently described genetic disorder that gathers autoinflammatory symptoms and myeloid dysplasia. The first description was reported in 2020, and subsequently, a growing number of cases have been described worldwide. Herein, we describe a case of a 72-year-old male patient with VEXAS syndrome with p.Met41Val mutation of the UBA1 gene, prominent supraglottic larynx involvement, and costochondritis. To our knowledge, this is the first report of VEXAS syndrome in Colombia and South America. This disease could present features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, and Sweet syndrome, associated with hematologic involvement, including cytopenias, myelodysplastic syndrome, or thromboembolic disease. Supraglottic larynx chondritis and costochondritis are atypical manifestations. These features were proposed previously to differentiate relapsing polychondritis from VEXAS syndrome but are not entirely reliable like in the case described. A diagnosis of VEXAS should be considered in male patients with incomplete or complete features of the previously described conditions, refractory to treatment, requiring high-dose glucocorticoids, and associated progressive hematologic abnormalities. Key Points • VEXAS syndrome is a recently described genetic (somatic mutations in UBA1 gene) disorder that gathers autoinflammatory and hematologic manifestations. • VEXAS syndrome should be considered in male patients with incomplete or complete features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, and Sweet syndrome, refractory to treatment, associated with hematologic involvement, including cytopenias, myelodysplastic syndrome, or thromboembolic disease. • Glucocorticoids ameliorate symptoms effectively. However, other treatment options are limited due to a lack of evidence. Traditional immunosuppressants and biological therapy have been used empirically with limited efficacy and a transient effect. Bone marrow transplant offers a curative approach, but it has high morbidity and mortality.