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

Kriegshäuser, Gernot; Enko, Dietmar; Hayrapetyan, Hasmik; Atoyan, Stepan; Oberkanins, Christian; Sarkisian, Tamara

doi:10.1038/gim.2018.46

Cited by 13 publications

(11 citation statements)

References 25 publications

(34 reference statements)

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“…In a study by Ureten et al comparing M694V homozygous, heterozygous and other mutations, disease onset was found to be lower in relative order (12). Similar findings were presented in other studies (13,14,16). Our results are consistent with previous studies.…”

Section: Discussionsupporting

confidence: 77%

Late-Onset Famılıal Medıterranean Fever: Sıngle-Center Experıence And Lıterature Revıew

Aydın

Egeli

Özdoğan

et al. 2020

Preprint

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Introduction: Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent fever and serositis attacks. The disease onset occurs before 20 years of age in 90% of patients. Rarely, the disease onset occurs after 40 years of age. Aim: We aimed to compare the patients with early and late-onset of disease. Methods: We did a retrospective analysis of 2020 patients registered in our FMF center in the years 2008-2017. Patients with disease onset after the age of 40 (Group 1) were collected. The control group (Group 2), disease onset before the age of 20, was randomly selected with twice amount of the study group. Demographic, clinical and genetic data were recorded. Results: Out of 2020 patients, 41 were in group 1 (2.02%). The male to female ratio was 1:1.7 in both groups. The delay of diagnosis was 5.6±5.75 years in group 1, 10.7±12.3 years in group 2. In terms of clinical features, the only significant difference between two groups belonged to fever seen in 26 (63.4%) patients in group 1 and 67 (81.7%) patients in group 2 (p=0,026). M694V mutation frequency was higher in group 2 whereas exon 2 mutation frequency was higher in group 1. The mean colchicine dose in the 6 months was 1.38±0.64 mg in group 1, 1.61±0.47 mg in group 2. Discussion: In patients with late disease onset, the results of decreased mean colchicine dose during the last 6 months, decreased fever ratio, and increased exon 2 mutation frequency might point out to mild disease severity. Keywords: Familial Mediterranean Fever, late-onset, early-onset, MEFV mutation, colchicine

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Section: Discussionsupporting

confidence: 77%

Late-Onset Famılıal Medıterranean Fever: Sıngle-Center Experıence And Lıterature Revıew

Aydın

Egeli

Özdoğan

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…In a study by Ureten et al comparing M694V homozygous, heterozygous and other mutations, disease onset was found to be lower in relative order (12). Similar ndings were presented in other studies (13,14,16). Our results are consistent with previous studies.…”

Section: Discussionsupporting

confidence: 78%

“…Fever was also found to be more frequent in patients with disease onset before 40 years when compared to after 40 years in the study of Tamir et al (13). In an Armenian cohort with 10370 patients, fever was also found to be more frequent with earlier onset (14). Nevertheless, fever was also found to be the most common second symptom in group 1.…”

Section: Discussionmentioning

confidence: 82%

Late-onset familial mediterranean fever: single-center experience and literature review

et al. 2022

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Introduction: Familial Mediterranean Fever (FMF) is an autoin ammatory disease characterized by recurrent fever and serositis attacks. The disease onset occurs before 20 years of age in 90% of patients. Rarely, the disease onset occurs after 40 years of age.Aim: We aimed to compare the patients with early and late-onset of disease.Methods: We did a retrospective analysis of 2020 patients registered in our FMF center in the years 2008-2017. Patients with disease onset after the age of 40 (Group 1) were collected. The control group (Group 2), disease onset before the age of 20, was randomly selected with twice amount of the study group.Demographic, clinical and genetic data were recorded.Results: Out of 2020 patients, 41 were in group 1 (2.02%). The male to female ratio was 1:1.7 in both groups. The delay of diagnosis was 5.6±5.75 years in group 1, 10.7±12.3 years in group 2. In terms of clinical features, the only signi cant difference between two groups belonged to fever seen in 26 (63.4%) patients in group 1 and 67 (81.7%) patients in group 2 (p=0,026). M694V mutation frequency was higher in group 2 whereas exon 2 mutation frequency was higher in group 1. The mean colchicine dose in the 6 months was 1.38±0.64 mg in group 1, 1.61±0.47 mg in group 2.Discussion: In patients with late disease onset, the results of decreased mean colchicine dose during the last 6 months, decreased fever ratio, and increased exon 2 mutation frequency might point out to mild disease severity.

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“…Approximately 90% of FMF patients experience their first attack before the age of 20 (37). FMF with the first attack at age ≥ 40 years is rare and there are only a few studies investigating the clinical and molecular genetic characteristics of late-onset FMF patients [38][39][40]. There is no definitively accepted age limit for late-onset FMF disease.…”

Section: Clinical Features Of Familial Mediterranean Fever By Age And...mentioning

confidence: 99%

“…There is no definitively accepted age limit for late-onset FMF disease. In some studies, this limit is >20 years old, while in others it is ≥40 years old (38)(39)(40)(41). Tamir et al examined FMF patients whose attacks of FMF started after the age of 40 and showed that they had a milder disease course.…”

Section: Clinical Features Of Familial Mediterranean Fever By Age And...mentioning

confidence: 99%

Immunosenescence and Late-Onset Familial Mediterranean Fever

Korkmaz

2022

AAEE

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Familial Mediterranean fever (FMF) is an autoinflammatory disease that causes recurrent fever and serositis. FMF often begins in childhood and is diagnosed at an early age. Although it is uncommon for the disease to occur after the age of 40, late-onset patient series have been published and compared to early-onset patient series in recent years. Although it is a genetically inherited disease, the reason why clinical symptoms appear at such a late age in some patients is unknown. The frequency of pathogenic mutations is lower in these patients than in early-onset FMF patients, and the disease has a milder course. Whether or not this clinical presentation is related to immune system changes associated with aging is an open question. Age-related immune system changes, such as an increase in senescence cells, the development of senescence-associated secretory phenotype, and a decline in autophagy with age, can trigger the inflammasome activation. In this regard, understanding the cause of the late-onset of FMF attacks may open up new avenues for research into pathogenesis. In this review, we will first compare the clinical features of the early and late-onset FMF series. We will then consider hypothetical causes of late-onset FMF attacks by reviewing age-related changes in the innate immune system.

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

Cited by 13 publications

References 25 publications

Late-Onset Famılıal Medıterranean Fever: Sıngle-Center Experıence And Lıterature Revıew

Late-Onset Famılıal Medıterranean Fever: Sıngle-Center Experıence And Lıterature Revıew

Late-onset familial mediterranean fever: single-center experience and literature review

Immunosenescence and Late-Onset Familial Mediterranean Fever

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