Alkhazendar Aliaa H, Soxi Fnu, Zia Qasim, Kumari Vanesha, Kumar Rameet, Israr Samia, Javed Maria, Mushtaq Shafaq
Surgery, Islamic University of Gaza, Gaza, PSE.
Internal Medicine, Jersey City Medical Center, Jersey City, USA.
Cureus. 2025 May 21;17(5):e84572. doi: 10.7759/cureus.84572. eCollection 2025 May.
Muckle-Wells syndrome (MWS), a rare autoinflammatory disorder within the cryopyrin-associated periodic syndrome (CAPS) spectrum, is primarily characterized by recurrent fevers, urticarial rash, sensorineural hearing loss, and risk of amyloidosis. Although systemic manifestations are well-documented, gastrointestinal (GI) symptoms remain underrecognized and poorly described. This systematic review explores the prevalence, diagnostic relevance, and treatment response of GI manifestations in MWS. A structured search strategy was employed using major databases, and studies were included if they involved patients with genetically or clinically confirmed MWS and reported GI symptoms such as abdominal pain or oral ulcers. A total of three studies met the inclusion criteria, including two observational cohorts and one case report. Abdominal pain was noted in up to one-third of patients with childhood-onset disease and recurrently in a confirmed case. While IL-1 blockade with anakinra or canakinumab demonstrated overall systemic improvement, GI outcomes were not consistently reported. These findings suggest that gastrointestinal involvement, though infrequently highlighted, may be clinically significant and should be integrated into diagnostic and therapeutic frameworks for MWS.
穆克-韦尔斯综合征（MWS）是一种罕见的自身炎症性疾病，属于冷吡啉相关周期性综合征（CAPS）谱系，主要特征为反复发热、荨麻疹样皮疹、感音神经性听力丧失以及淀粉样变性风险。尽管全身表现已有充分记录，但胃肠道（GI）症状仍未得到充分认识且描述较少。本系统评价探讨了MWS中胃肠道表现的患病率、诊断相关性及治疗反应。采用结构化检索策略在主要数据库中进行检索，纳入的研究需涉及基因或临床确诊的MWS患者，并报告腹痛或口腔溃疡等胃肠道症状。共有三项研究符合纳入标准，包括两项观察性队列研究和一项病例报告。在儿童期发病的患者中，高达三分之一出现腹痛，且在一例确诊病例中反复出现。虽然使用阿那白滞素或卡那单抗进行白细胞介素-1阻断显示出全身状况总体改善，但胃肠道结局的报告并不一致。这些发现表明，胃肠道受累虽较少被提及，但可能具有临床意义，应纳入MWS的诊断和治疗框架。
