Division of Rheumatology, Department of Internal Medicine, Istanbul University-Cerrahpasa, School of Medicine, Istanbul, Turkey.
Division of Rheumatology, Department of Internal Medicine, Istanbul University-Cerrahpasa, School of Medicine, Istanbul, Turkey.
Clin Immunol. 2023 Jun;251:109630. doi: 10.1016/j.clim.2023.109630. Epub 2023 Apr 30.
Behçet disease (BD) and familial Mediterranean fever (FMF) are two inflammatory disorders that share many features including historical background, ethnical distribution and inflammatory characteristics. Several studies suggested that BD and FMF might occur in the same individual more commonly than expected. Additionally, the pathogenic MEFV gene variants, especially p.Met694Val, activating the inflammasome complex have been shown to increase the risk for BD in regions where both FMF and BD are prevalent. Whether these variants are associated with certain disease subtypes and whether they may help in the planning of treatment need to be explored. This review provides a recent overview of the plausible association between FMF and BD and the role of MEFV variants in the pathogenesis of BD.
贝切特病(BD)和家族性地中海热(FMF)是两种炎症性疾病,它们具有许多共同特征,包括历史背景、种族分布和炎症特征。一些研究表明,BD 和 FMF 在同一患者中比预期更常见。此外,致病的 MEFV 基因突变体,特别是 p.Met694Val,激活了炎症小体复合物,已被证明会增加 FMF 和 BD 流行地区发生 BD 的风险。这些变异体是否与某些疾病亚型相关,以及它们是否有助于治疗计划的制定,仍需要进一步探索。本综述提供了 FMF 和 BD 之间可能存在关联的最新概述,以及 MEFV 变异体在 BD 发病机制中的作用。