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Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.

ABSTRACT: Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder. We aim to identify the distribution and the frequency of the Mediterranean Fever (MEFV) gene mutations in the east of Anatolia in Turkey and perform a genotype/phenotype correlation in the patients' cohort. The study was carried out on 415 clinically diagnosed Turkish FMF patients and 103 healthy controls. The tested individuals were screened for the most common twelve MEFV mutations. The most important features were the predominance of the M694V and E148Q mutations in patient group and the earlier of onset of the disease in M694V mutation carriers compared with the carriers of other mutations (P=0.00). We discuss the high frequency of E148Q mutations in patient group compared with controls, genetic counseling in intermarriage families and the variations in mutation frequency according to regions of Turkey.

SUBMITTER: Etem EO

PROVIDER: S-EPMC2825617 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature

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Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.

Etem Ebru Onalan EO Deveci Sukriye Derya SD Erol Deniz D Yuce Huseyin H Elyas Halit H

The open rheumatology journal 20100129

Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder. We aim to identify the distribution and the frequency of the Mediterranean Fever (MEFV) gene mutations in the east of Anatolia in Turkey and perform a genotype/phenotype correlation in the patients' cohort. The study was carried out on 415 clinically diagnosed Turkish FMF patients and 103 healthy controls. The tested individuals were screened for the most common twelve MEFV mutations. The most important features were th ...[more]

PMID: 20177433

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Analysis of microRNAs in familial Mediterranean fever

Project description:microRNA analysis of PBMC from FMF patients vs healthy controls

2018-03-02 | GSE111311 | GEO

Analysis of microRNAs in familial Mediterranean fever.

Project description:ObjectivesAlthough Familial Mediterranean fever (FMF) is categorized as autosomal recessive, frequent exceptions to this model exist and therefore we aimed to search epigenetic modifications in this disease.MethodsTen M694V homozygous FMF patients (the most severe phenotype) were recruited for this study. Patients with inflammatory flare were excluded. Total RNA was extracted from peripheral blood, and microRNA expression profiled using NanoString nCounter technology. These patients were compared to 10 healthy age- and sex-matched controls.ResultsSeven hundred nighty-eight mature human miRNAs were probed, 103 of which had expression levels above the negative control probes. Seven miRNAs showed significant differences in expression in samples from FMF patients compared to healthy controls: four miRNAs were upregulated (miR-144-3p, miR-21-5p, miR-4454, and miR-451a), and three were downregulated (miR-107, let-7d-5p, and miR-148b-3p).ConclusionIn this pilot study, we identified epigenetic modifications in clinically quiescent FMF patients. More studies are required for exploration of their contribution to FMF pathogenesis and their potential role as clinical biomarkers.

| S-EPMC5963758 | biostudies-literature

Adherence to best practice consensus guidelines for familial Mediterranean fever: a modified Delphi study among paediatric rheumatologists in Turkey.

Project description:BackgroundAlthough not validated fully, recommendations are present for diagnosis, screening and treatment modalities of patients with familial Mediterranean fever (FMF).ObjectiveTo review the current practices of clinicians regarding FMF and reveal their adherence to consensus guidelines.MethodsFifteen key points selected regarding the diagnosis and management of FMF were assessed by 14 paediatric rheumatologists with a three-round modified Delphi panel.ResultsConsensus was reached on the following aspects: genetic analysis should be ordered to all patients when clinical findings support FMF, but its result is not decisive alone. In the absence of clinical features, colchicine should be commenced when two pathogenic alleles and family history of amyloidosis are present. Serum amyloid A testing at each visit is recommended in patients resistant to colchicine, with subclinical inflammation and family history of amyloidosis. Consensus was reached on both the definition of colchicine resistance and starting biologic in resistant cases. Cost, efficiency, ease of use, treatment adherence, accessibility and emergence of adverse events are the factors affecting the choice of biologic agents. In patients without any attack and evidence of subclinical inflammation within the last 6 months following initiation of biologics, treatment dose intervals can be prolonged.ConclusionA consensus was achieved regarding the routine diagnosis and screening and treatment of FMF patients. The definition of colchicine resistance was made and a protocol was created for prolongation of treatment intervals of biologic agents. We anticipate that the results of the study reveal real-life data on the approach to patients in clinical practice.

| S-EPMC7811395 | biostudies-literature

Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.

Project description:BackgroundLong-read sequencing technology, widely used in research, is proving useful in clinical diagnosis, especially for infectious diseases. Despite recent advances, it hasn't been routinely applied to constitutional human diseases. Long-read sequencing detects intronic variants and phases variants, crucial for identifying recessive diseases.MethodsWe integrated long-read sequencing into the clinical diagnostic workflow for the MEFV gene, responsible for familial Mediterranean fever (FMF), using a Nanopore-based workflow. This involved long-range PCR amplification, native barcoding kit library preparation, GridION sequencing, and in-house bioinformatics. We compared this new workflow against our validated method using 39 patient samples and 3 samples from an external quality assessment scheme to ensure compliance with ISO15189 standards.ResultsOur evaluation demonstrated excellent performance, meeting ISO15189 requirements for reproducibility, repeatability, sensitivity, and specificity. Since October 2022, 150 patient samples were successfully analyzed with no failures. Among these samples, we identified 13 heterozygous carriers of likely pathogenic (LP) or pathogenic (P) variants, 1 patient with a homozygous LP/P variant in MEFV, and 4 patients with compound heterozygous variants.ConclusionThis study represents the first integration of long-read sequencing for FMF clinical diagnosis, achieving 100 % sensitivity and specificity. Our findings highlight its potential to identify pathogenic variants without parental segregation analysis, offering faster, cost-effective, and accurate clinical diagnosis. This successful implementation lays the groundwork for future applications in other constitutional human diseases, advancing precision medicine.

| S-EPMC11369391 | biostudies-literature

Renal amyloidosis due to familial mediterranean fever misdiagnosed.

Project description:Familial Mediterranean fever (FMF, MIM 249100) is an autosomal recessive disease affecting mainly patients of the Mediterranean basin. It is an autoinflammatory periodic disorder characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The major complication of FMF is the development of renal AA amyloidosis. Treatment with colchicine prevents the occurrence of recurrent seizures and renal amyloidosis. The disease is caused by mutations in the MEFV gene. We report here the cases of two unrelated patients, who have been late diagnosed with FMF complicated by renal amyloidosis. We focus on the importance of early diagnosis of FMF, both to start rapidly treatment with colchicine and avoid renal amyloidosis, and to provide genetic counseling to families.

| S-EPMC3656531 | biostudies-literature

Interventions for reducing inflammation in familial Mediterranean fever.

Project description: Not available

| S-EPMC8962959 | biostudies-literature

Interventions for reducing inflammation in familial Mediterranean fever.

Project description: Not available

| S-EPMC6517233 | biostudies-literature

The Frequency and Causes of Blindness in a Rural Region of Central Anatolia of Turkey.

Project description:Objective:This study aimed to evaluate the frequency and primary causes of blindness in adults aged 18 years and more in Sar?kaya rural region of Yozgat, Turkey, to contribute to the epidemiologic information about blindness in our country. Materials and Methods:Patients who were examined between October 2016 and March 2017 in Sar?kaya State Hospital, Clinic of Ophthalmology, were prospectively investigated. Demographic and ophthalmic examination data, presented visual acuities (VA), primary causes of blindness, and monocular blindness were recorded. Blindness was defined as presented visual acuities (VA) definition of World Health Organization criteria. Results:A total of 3423 participants, aged 18-96 years, were examined. Among them, 1887 participants (55%) were female and 1536 (45%) were male. The frequency of blindness was 1.5% (95% CI: 1.1%-2.0%); and cataract was the primary cause of blindness (42%). Age-related macular degeneration (21%) and uncorrected refractive error (13%) were the next main causes of blindness. The frequency of monocular blindness was 4% (95% CI: 3.8%-5.2%), and cataract (27%) followed by phthisis bulbi/evisceration (13%) and glaucoma (12%) were the leading causes of monocular blindness. Conclusion:In this rural region of Central Anatolia, the primary cause of blindness and monocular blindness was an unoperated cataract. The patterns of age-specific causes of blindness are variable, but most of them are avoidable or treatable. Thus, awareness should be increased in societies, and people should be prevented from blindness with health-care programs in rural regions of developing countries.

| S-EPMC6812921 | biostudies-literature

Fractal dimension analysis of different mandibular regions in familial Mediterranean fever patients: A cross-sectional retrospective study.

Project description:Familial Mediterranean fever (FMF) is a genetic condition that may cause loss of bone mineral density (BMD) due to chronic inflammation. Previously, fractal dimension (FD) analysis values of mandibular cortical bone were shown to be lower in osteoporosis. Therefore, FD might be considered as an auxiliary tool to refer patients for dual-energy x-ray absorptiometry (DXA), which is the gold standard for BMD measurement. The purpose of this cross-sectional retrospective study was to evaluate trabecular and cortical microarchitecture of the mandible with FD analysis on panoramic radiographs in a subpopulation of FMF. Also, the effect of colchicine use was investigated. Forty-three FMF patients, aged between 10.8 and 71.2 years, and age- and gender-matched control group consisting of patients, who had no systemic diseases, were included. Demographic information such as age and gender, and colchicine use were recorded. In terms of age, the patients were classified as <30 and 30< years. On each panoramic radiographs five regions of interest were selected on the mandible as: 1- premolar, 2- molar, 3- angular, 4- condylar, and 5- basal cortical bone regions on right (R) and left (L) sides. Statistical significance was accepted at p<0.05 level. Intra- and inter-observer agreements demonstrated good to excellent consistency. In FMF patients, L3 and L4 values were higher, whereas L5 values were lower (p<0.05) than the control group. In terms of age, the difference between groups was insignificant in FMF patients (p>0.05), whereas in control group R3 and L4 values were higher in the 30< age group (p<0.05). Regarding gender and colchicine use, the difference between groups was insignificant (p>0.05). FMF disease might be a candidate for referral to DXA examination based on decreased bone density in the mandibular cortex detected by FD measurements on routine panoramic radiographs. Further studies are warranted to ascertain this relationship.

| S-EPMC10313079 | biostudies-literature

Familial Mediterranean Fever and COVID-19: Friends or Foes?

Project description:Familial Mediterranean Fever (FMF) and COVID-19 show a remarkable overlap of clinical symptoms and similar laboratory findings. Both are characterized by fever, abdominal/chest pain, elevation of C-reactive protein, and leukocytosis. In addition, colchicine and IL-1 inhibitors treatments that are effective in controlling inflammation in FMF patients have recently been proposed for off-label use in COVID-19 patients. Thus, FMF may resemble a milder recapitulation of the cytokine storm that is a hallmark of COVID-19 patients progressing to severe disease. We analyzed the sequence of the MEFV-encoded Pyrin protein - whose mutations cause FMF- in mammals, bats and pangolin. Intriguingly, although Pyrin is extremely conserved in species that are considered either a reservoir or intermediate hosts for SARS-CoV-2, some of the most common FMF-causing variants in humans are present as wildtype residues in these species. We propose that in humans, Pyrin may have evolved to fight highly pathogenic infections.

| S-EPMC7530822 | biostudies-literature

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