ASSESSMENT OF SURROGATE MARKERS FOR CARDIOVASCULAR DISEASE IN FAMILIAL MEDITERRANEAN FEVER-RELATED AMYLOIDOSIS PATIENTS HOMOZYGOUS FOR M694V MUTATION IN MEFV GENE
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Date
2022
Authors
Sahin, Sezgin
Romano, Micol
Guzel, Ferhat
Piskin, David
Poddighe, Dimitri
Sezer, Siren
Kasapcopur, Ozgur
Appleton, C. Thomas
Yilmaz, Ilker
Demirkaya, Erkan
Journal Title
Journal ISSN
Volume Title
Publisher
Life
Abstract
Cardiovascular disease (CVD) remains underestimated in familial Mediterranean feverassociated
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 flowmediated
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.
Description
Keywords
Type of access: Open Access, familial Mediterranean fever, M694V homozygosity, AA amyloidosis, cardiovascular disease, flow-mediated dilatation, carotid artery intima-media thickness
Citation
Sahin, S., Romano, M., Guzel, F., Piskin, D., Poddighe, D., Sezer, S., Kasapcopur, O., Appleton, C. T. G., Yilmaz, I., & Demirkaya, E. (2022). Assessment of Surrogate Markers for Cardiovascular Disease in Familial Mediterranean Fever-Related Amyloidosis Patients Homozygous for M694V Mutation in MEFV Gene. Life, 12(5), 631. https://doi.org/10.3390/life12050631