Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

This work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients. In total, 10,370 Armenian patients diagnosed with FMF based on the T...

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Veröffentlicht in:	Genetics in medicine 2018-12, Vol.20 (12), p.1583-1588
Hauptverfasser:	Kriegshäuser, Gernot, Enko, Dietmar, Hayrapetyan, Hasmik, Atoyan, Stepan, Oberkanins, Christian, Sarkisian, Tamara
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Armenia - epidemiology Biomedical and Life Sciences Biomedicine disease phenotype familial Mediterranean fever Familial Mediterranean Fever - epidemiology Familial Mediterranean Fever - genetics Familial Mediterranean Fever - physiopathology Female Fever Genetic Heterogeneity Genetic Predisposition to Disease Genotype Human Genetics Humans Laboratory Medicine late onset Male MEFV mutation Middle Aged Mutation Phenotype Pyrin - genetics
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Zusammenfassung:	This work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients. In total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study. A total of 354 (3.40%) patients had late-onset FMF. Of these, 194 (54.80%) were female and 160 (45.20%) were male. The following genotypes were significantly associated with the late-onset variant: M680I/E148Q (P = 0.004), M694V/E148Q (P
ISSN:	1098-3600 1530-0366
DOI:	10.1038/gim.2018.46