Does Age at Onset Affect the Clinical Presentation of Familial Mediterranean Fever in Children?

Yıldırım, Deniz Gezgin; Gönen, Sevim; Fidan, Kibriya; Söylemezoğlu, Oğuz

doi:10.1097/rhu.0000000000001637

Cited by 10 publications

(10 citation statements)

References 15 publications

(47 reference statements)

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“…Although this study was conducted in only one region in Turkey, in agreement with other studies, homozygous M694V mutation was the most frequent. However, in our study, the rate of patients with this mutation was found to be higher than those reported in other Turkish studies 17,22 . This situation may be explained by the fact that consanguineous marriage is more frequent in the region.…”

Section: Discussioncontrasting

confidence: 86%

“…The rates of arthritis and ELE in patients with M694V homozygous mutations were found to be significantly higher than the other patients ( P = 0.002 and <0.001, respectively). These results confirmed once again that M694V mutations are seen more frequently in FMF patients with musculoskeletal involvement such as arthritis and ELE 17,19,22,24 . In this sense, it may also be interpreted that our study did not agree with the results of the study from Japan which reported that musculoskeletal system findings are seen in FMF patients with later onset and a milder course 25 .…”

Section: Discussionsupporting

confidence: 57%

“…In a study that was conducted countrywide, it was stated that amyloidosis is seen more frequently in patients carrying pathogenic mutations 19 . With respect to genotyping, comparable findings were recently reported in adults and children, showing that patients homozygous for the M694V mutation had more joint involvement, higher ELE rates, and more complications 16,17,22 …”

Section: Discussionmentioning

confidence: 76%

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The analysis of genotype‐phenotype correlation in familial Mediterranean fever

Öztürk

Çakan

2022

Pediatrics International

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Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting with phenotypic heterogeneity. It is a clinically diagnosed disease supported by Mediterranean fever gene mutation analysis. This medical record review study aimed to make a new interpretation of clinical features in FMF patients by grouping genetic results based on the classification proposed by the Eurofever/ Paediatric Rheumatology International Trials Organisation. Methods: The medical charts of pediatric FMF patients who were diagnosed and followed up regularly at the two pediatric rheumatology units were reviewed. Genetic analysis results were classified as confirmatory and nonconfirmatory as defined in the new Eurofever/ Paediatric Rheumatology International Trials Organisation classification criteria, and they were compared with clinical findings. Results: A total of 216 FMF patients were involved in the study. Group 1 was composed of 133 (61.6%) patients with a confirmatory mutation and group 2 included 83 (38.4%) patients with a nonconfirmatory mutation. All clinical findings were compared, and in terms of fever (P = 0.027), abdominal pain (P = 0.016), arthritis (P = 0.008) and erysipelas-like erythema (ELE; P = 0.003) incidence, there was a significant difference between the two groups. The most common Mediterranean fever gene mutation patterns were homozygous (33.8%) and heterozygous (17.1%) mutations of M694V. The frequency of arthritis and ELE in patients with M694V homozygous mutations was significantly higher than in the other patients (P = 0.002 and P <0.001, respectively). Conclusions: The most frequently observed clinical features of FMF (i.e., fever and abdominal pain) are both observed in patients with confirmatory and nonconfirmatory mutations, ELE and arthritis are more commonly observed in patients with confirmatory mutations.

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Section: Discussioncontrasting

confidence: 86%

Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 76%

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The analysis of genotype‐phenotype correlation in familial Mediterranean fever

Öztürk

Çakan

2022

Pediatrics International

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“…To the best of our knowledge, concurrence of FMF and CNO has not been reported in case series on both conditions published so far 9,12–17 . There are some case reports in which FMF and CNO coexist in patients of different ethnic origin 26–30 . Three of them were Turkish patients, one of them was a Jewish patient from Canada, one of them was from Japan, and the other one was an Arabic patient from Qatar.…”

Section: Discussionmentioning

confidence: 91%

The Possible Relationship Between Familial Mediterranean Fever and Chronic Nonbacterial Osteomyelitis

Çiçek¹,

Şahin²,

Karaman

et al. 2020

J Clin Rheumatol

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Background/Objectives: Chronic nonbacterial osteomyelitis (CNO) is an inflammatory disease characterized by recurrent attacks and remissions due to sterile bone inflammation. The CNO may be accompanied by various inflammatory diseases. The aims of our study were to determine the clinical, laboratory, and radiological characteristics of children with CNO, and to investigate the possible effect of concomitant diseases on the course of CNO.Methods: Twenty-three patients who were diagnosed with CNO between 2012 and 2019 were analyzed. Demographic characteristics, clinical courses, laboratory and imaging findings, and concomitant diseases were recorded. The characteristics of the CNO patients with and without concomitant diseases were compared. Results:The mean ± SD age of patients at the time of diagnosis and the last follow-up was 10.46 ± 4.1 and 12.47 ± 4.47 years, respectively. The median (range) time interval between disease onset and diagnosis was 5.33 (1-55) months. The mean ± SD duration of disease was 24.71 ± 16.76 months. Twelve patients (52.2%) were male. The most commonly affected areas were femur (74%), tibia/fibula (74%), and pelvis (52.2%). Age at symptom onset, age at diagnosis, mean number of lesions, presence of sacroiliitis, acute phase reactants at the start of disease, clinical and radiological remission rates, and treatment responses were not significantly different between the 13 patients with concomitant diseases and those without. Eight patients (34.8%) had familial Mediterranean fever (FMF), and all of them had exon 10 mutations. Four patients (17.4%) had juvenile spondylarthritis, one had inflammatory bowel disease, and one had psoriatic arthritis as concomitant diseases. Clinical remission was achieved in 19 patients (82.6%) and complete remission in 11 patients (47.8%) at the time of follow-up. Conclusions:In our cohort, half of the patients with CNO had concomitant diseases, with FMF being the most common. We think that the coexistence of FMF and CNO is not a coincidental one and that both may result due to an abnormality of a common pathogenetic pathway.

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“…Patients with homozygous M694V and M680I mutations generally have a worse phenotype. Arthritis, renal amyloidosis and erysipelas‐like erythema have been more frequently reported in individuals with M694V homozygous mutation 5,6 …”

Section: Introductionmentioning

confidence: 99%

Efficacy and safety of anti‐interleukin‐1 in children with colchicine‐resistant familial Mediterranean fever

Erkilet,

Gezgin Yildirim,

Esmeray

et al. 2023

Pediatrics International

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BackgroundThe aim of this study was to evaluate the efficacy and safety of anti‐interleukin‐1 (IL‐1) therapies in colchicine‐resistant pediatric patients with familial Mediterranean fever (FMF).MethodsIn this study, we retrospectively evaluated 656 children with FMF and 27 patients who had been treated with anti‐IL‐1 therapies (anakinra/canakinumab) . Clinical and laboratory features, MEFV gene mutations, treatment responses were investigated.ResultsTwenty of the patients were treated with anakinra (the treatment of 6 patients who initially used anakinra was switched to canakinumab in the follow‐up period), and 13 patients were treated with canakinumab. Clinical symptom and severity scores decreased in all patients A decrease in acute phase reactants was also observed in patients. A total of 18 (66%) patients had a M694V homozygous mutation, while 24 (89%) patients had a M694V mutation, at least in one allele.ConclusionsFMF patients with colchicine resistance may progress to amyloidosis. IL‐1 antagonist treatment could be used safely with a favorable outcome in pediatric patients with FMF resistance to colchicine therapy and/or who have renal amyloidosis.

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Does Age at Onset Affect the Clinical Presentation of Familial Mediterranean Fever in Children?

Cited by 10 publications

References 15 publications

The analysis of genotype‐phenotype correlation in familial Mediterranean fever

The analysis of genotype‐phenotype correlation in familial Mediterranean fever

The Possible Relationship Between Familial Mediterranean Fever and Chronic Nonbacterial Osteomyelitis

Efficacy and safety of anti‐interleukin‐1 in children with colchicine‐resistant familial Mediterranean fever

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