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

Sahin S. Romano M. Guzel F. Piskin D. Poddighe D. Sezer S. Kasapcopur O. Appleton C.T. Yilmaz I. Demirkaya E.
May 2022 MDPI

Life
2022 #12 Issue 5

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.

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

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Department of Paediatric Rheumatology, Istanbul University-Cerrahpasa, Istanbul, 34098, Turkey
Division of Paediatric Rheumatology, Department of Paediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, N6A 5C1, ON, Canada
Canadian Behcet and Autoinflammatory Disease Center (CAN-BE-AID), University of Western Ontario, London, N6A 5C1, ON, Canada
Molecular Genetics Laboratories, Genetics Research and Genome Center, Department of Research and Development, Ant Biotechnology, Istanbul, 34775, Turkey
Lawson Health Research Institute, London Health Sciences Center, London, N6C 2R5, ON, Canada
Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, N6A 5C1, ON, Canada
Department of Medicine, Nazarbayev University School of Medicine, Nur-Sultan, 010000, Kazakhstan
Clinical Academic Department of Pediatrics, National Research Center of Maternal and Child Health, University Medical Center, Nur-Sultan, 010000, Kazakhstan
Division of Nephrology, Atilim University, Faculty of Medicine, Ankara, 06830, Turkey
Division of Rheumatology, Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, N6A 5C1, ON, Canada
Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, University of Western Ontario, London, N6A 5C1, ON, Canada
Epigenetic Health Solutions, Unit of Nephrology, Ankara, 06810, Turkey

Department of Paediatric Rheumatology
Division of Paediatric Rheumatology
Canadian Behcet and Autoinflammatory Disease Center (CAN-BE-AID)
Molecular Genetics Laboratories
Lawson Health Research Institute
Department of Epidemiology and Biostatistics
Department of Medicine
Clinical Academic Department of Pediatrics
Division of Nephrology
Division of Rheumatology
Department of Physiology and Pharmacology
Epigenetic Health Solutions

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