Ono Nobuyuki, Yoshimura Motoki, Nishida Toshiya, Yamauchi Yusuke, Doi Goro, Fuyuno Yoko, Sonoda Motoshi, Niiro Hiroaki
Department of Medicine and Biosystem Science, Graduate School of Medical Science, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Department of Rheumatology, Fukuoka City Hospital, Fukuoka, Japan.
Mod Rheumatol Case Rep. 2025 Jul 25;9(2). doi: 10.1093/mrcr/rxaf016.
Macrophage activation syndrome (MAS) is an autoinflammatory condition, which severely complicates autoimmune diseases, such as systemic juvenile idiopathic arthritis, adult onset Still's disease, and systemic lupus erythematosus. MEFV gene encodes a component of pyrin inflammasome, whose variants cause familial Mediterranean fever (FMF). We experienced a recurrent MAS case with homozygous MEFV P369S variants accompanied by Sjögren syndrome and pulmonary arterial hypertension, whose recurrent MAS was successfully treated with canakinumab. Pathogenicity of MEFV P369S variant is still inconsistent, and clinical interpretation of this variant is challenging. Thus, we reviewed previous literatures and revealed that the majority of FMF patients with collagen diseases in carried MEFV P369S variant, all of which were reported from Japan. In this case-based review, we clarify the epidemiology of MEFV variants in collagen diseases and discuss the significance of their genetic analysis.
巨噬细胞活化综合征（MAS）是一种自身炎症性疾病，它会严重使自身免疫性疾病复杂化，如系统性幼年特发性关节炎、成人斯蒂尔病和系统性红斑狼疮。MEFV基因编码一种吡喃素炎性小体成分，其变异会导致家族性地中海热（FMF）。我们遇到了一例复发性MAS病例，该病例伴有纯合MEFV P369S变异，同时患有干燥综合征和肺动脉高压，其复发性MAS通过卡那单抗成功治疗。MEFV P369S变异的致病性仍不一致，对该变异的临床解释具有挑战性。因此，我们回顾了以往的文献，发现大多数患有胶原病的FMF患者携带MEFV P369S变异，所有这些病例均来自日本。在这篇基于病例的综述中，我们阐明了胶原病中MEFV变异的流行病学情况，并讨论了其基因分析的意义。
