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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Published in | Genetics in medicine Vol. 20; no. 12; pp. 1583 - 1588 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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01.12.2018
Nature Publishing Group US Elsevier Limited |
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Abstract | 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 < 0.001), and V726A/V726A (P< 0.001). Of note, 12/354 (3.40%) patients were found to be homozygous for the M694V mutation. Individuals with late-onset FMF had a milder disease phenotype presenting significantly less frequent fever, skin manifestation, and chest pain compared to individuals with a disease onset before 40 years of age. Abdominal pain was found more often in the late-onset FMF group, whereas arthritis, proteinuria, and amyloidosis did not differ significantly between the two groups.
Our data suggest that late-onset FMF is more prevalent in women and is of greater clinical as well as genetic heterogeneity than previously reported. |
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AbstractList | PURPOSEThis 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. METHODSIn 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. RESULTSA 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 < 0.001), and V726A/V726A (P< 0.001). Of note, 12/354 (3.40%) patients were found to be homozygous for the M694V mutation. Individuals with late-onset FMF had a milder disease phenotype presenting significantly less frequent fever, skin manifestation, and chest pain compared to individuals with a disease onset before 40 years of age. Abdominal pain was found more often in the late-onset FMF group, whereas arthritis, proteinuria, and amyloidosis did not differ significantly between the two groups. CONCLUSIONOur data suggest that late-onset FMF is more prevalent in women and is of greater clinical as well as genetic heterogeneity than previously reported. 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 < 0.001), and V726A/V726A (P< 0.001). Of note, 12/354 (3.40%) patients were found to be homozygous for the M694V mutation. Individuals with late-onset FMF had a milder disease phenotype presenting significantly less frequent fever, skin manifestation, and chest pain compared to individuals with a disease onset before 40 years of age. Abdominal pain was found more often in the late-onset FMF group, whereas arthritis, proteinuria, and amyloidosis did not differ significantly between the two groups. Our data suggest that late-onset FMF is more prevalent in women and is of greater clinical as well as genetic heterogeneity than previously reported. Purpose 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. Methods 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. Results 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 < 0.001), and V726A/V726A ( P < 0.001). Of note, 12/354 (3.40%) patients were found to be homozygous for the M694V mutation. Individuals with late-onset FMF had a milder disease phenotype presenting significantly less frequent fever, skin manifestation, and chest pain compared to individuals with a disease onset before 40 years of age. Abdominal pain was found more often in the late-onset FMF group, whereas arthritis, proteinuria, and amyloidosis did not differ significantly between the two groups. Conclusion Our data suggest that late-onset FMF is more prevalent in women and is of greater clinical as well as genetic heterogeneity than previously reported. |
Author | Kriegshäuser, Gernot Sarkisian, Tamara Hayrapetyan, Hasmik Oberkanins, Christian Enko, Dietmar Atoyan, Stepan |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29543225$$D View this record in MEDLINE/PubMed |
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CitedBy_id | crossref_primary_10_56543_aaeeu_2022_1_1_05 crossref_primary_10_1007_s11739_021_02912_8 crossref_primary_10_1080_09273948_2024_2317978 crossref_primary_10_21294_1814_4861_2023_22_6_83_91 crossref_primary_10_1038_s41433_021_01822_5 crossref_primary_10_1186_s13075_018_1738_1 crossref_primary_10_1016_j_gene_2022_146447 crossref_primary_10_1093_rheumatology_keaa452 crossref_primary_10_4274_qrheumatol_galenos_2023_43434 |
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contributor: fullname: Lidar – ident: 10.1038/gim.2018.46_bb0095 contributor: fullname: Dewalle – ident: 10.1038/gim.2018.46_bb0035 contributor: fullname: Dodé – ident: 10.1038/gim.2018.46_bb0030 contributor: fullname: Gershoni-Baruch – ident: 10.1038/gim.2018.46_bb0060 contributor: fullname: Oberkanins – ident: 10.1038/gim.2018.46_bb0025 contributor: fullname: Fujikura – ident: 10.1038/gim.2018.46_bb0115 contributor: fullname: Livneh – ident: 10.1038/gim.2018.46_bb0045 contributor: fullname: Moradian – ident: 10.1038/gim.2018.46_bb0065 contributor: fullname: Tamir – ident: 10.1038/gim.2018.46_bb0105 contributor: fullname: Ben-Chetrit – ident: 10.1038/gim.2018.46_bb0070 contributor: fullname: Sayarlioglu |
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Snippet | This work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF)... Purpose This work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean... PurposeThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever... PURPOSEThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever... |
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SubjectTerms | 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 |
Title | Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever |
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