Assessment of Surrogate Markers for Cardiovascular Disease in Familial Mediterranean Fever-Related Amyloidosis Patients Homozygous for M694V Mutation in MEFV Gene

Sezgin Sahin, Micol Romano, Ferhat Guzel, David Piskin, Dimitri Poddighe, Siren Sezer, Ozgur Kasapcopur, C. Thomas Appleton, Ilker Yilmaz, Erkan Demirkaya

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Cardiovascular 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.

Original languageEnglish
Article number631
JournalLife
Volume12
Issue number5
DOIs
Publication statusPublished - May 2022

Keywords

  • AA amyloidosis
  • cardiovascular disease
  • carotid artery intima-media thickness
  • familial Mediterranean fever
  • flow-mediated dilatation
  • M694V homozygosity

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • General Biochemistry,Genetics and Molecular Biology
  • Space and Planetary Science
  • Palaeontology

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