Sahin, SezginRomano, MicolGuzel, FerhatPiskin, DavidPoddighe, DimitriSezer, SirenDemirkaya, Erkan2024-07-052024-07-05202212075-172910.3390/life120506312-s2.0-85129763888https://doi.org/10.3390/life12050631https://hdl.handle.net/20.500.14411/1766Poddighe, Dimitri/0000-0001-6431-9334; Appleton, Tom/0000-0001-7148-0767; sezer, siren/0000-0002-7326-8388; Sahin, Sezgin/0000-0002-5365-3457; Kasapcopur, Ozgur/0000-0002-1125-7720; guzel, ferhat/0000-0002-5839-6939Cardiovascular disease (CVD) remains underestimated in familial Mediterranean fever-associated AA amyloidosis (FMF-AA). We aimed to compare early markers of endothelial dysfunction and atherosclerosis in FMF-AA with a homozygous M694V mutation (Group 1 = 76 patients) in the Mediterranean fever (MEFV) gene and in patients with other genotypes (Group 2 = 93 patients). Measures of increased risk for future CVD events and endothelial dysfunction, including flow-mediated dilatation (FMD), pentraxin-3 (PTX3), and carotid intima-media thickness (cIMT), and fibroblast growth factor 23 (FGF23) as a marker of atherosclerotic vascular disease were compared between groups. The frequency of clinical FMF manifestations did not differ between the two groups apart from arthritis (76.3% in Group 1 and 59.1% in Group 2, p < 0.05). FMD was significantly lower in Group 1 when compared with Group 2 (MD [95% CI]: -0.6 [(-0.89)-(-0.31)]). cIMT, FGF23, and PTX3 levels were higher in Group 1 (cIMT MD [95% CI]: 0.12 [0.08-0.16]; FGF23 MD [95% CI]: 12.8 [5.9-19.6]; PTX3 MD [95% CI]: 13.3 [8.9-17.5]). In patients with FMF-AA, M694V homozygosity is associated with lower FMD values and higher cIMT, FGF23, and PTX3 levels, suggesting increased CVD risk profiles. These data suggest that a genotype-phenotype association exists in terms of endothelial dysfunction and atherosclerosis in patients with FMF-AA.eninfo:eu-repo/semantics/openAccessfamilial Mediterranean feverM694V homozygosityAA amyloidosiscardiovascular diseaseflow-mediated dilatationcarotid artery intima-media thicknessArticle125WOS:00080162230000135629299