Noboyuki Ono, Motoki Yoshimura, Toshiya Nishida, Yusuke Yamauchi, Goro Doi, Yoko Fuyuno, Motoshi Sonoda, Hiroaki Niiro
Fukuoka City Hospital, Kyushu University Hospital, Beppu Hospital, and Kyushu University. Iizuka Hospital.
Japan
Modern Rheumatology Case Reports
Mod Rheumatol Case Rep 2025;
DOI: 10.1093/mrcr/rxaf016
Abstract
Macrophage activation syndrome (MAS) is an autoinflammatory condition, which severely complicates autoimmune diseases, such as SJIA, AOSD and SLE. 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 with Sjogren 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.
Category
Class I. Pulmonary Hypertension Associated with Connective Tissue Disease
Class I. Pulmonary Hypertension Associated with Inflammation
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
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