scholarly journals FAMILIAL MEDITERRANEAN FEVER: ASSESSING THE OVERALL CLINICAL IMPACT AND FORMULATING TREATMENT PLANS

2019 ◽  
Vol 11 (1) ◽  
pp. e2019027 ◽  
Author(s):  
Donato Rigante ◽  
Raffaele Manna
Keyword(s):  
Familial Mediterranean Fever ◽  
Therapeutic Option ◽  
Interleukin 1 ◽  
Mefv Gene ◽  
Clinical Signs ◽  
Gene Mutations ◽  
Recessive Trait ◽  
Aa Amyloidosis ◽  
Mefv Mutations ◽  
Mediterranean Fever

Recurrent self-limited attacks of fever and short-lived inflammation in the serosal membranes, joints and skin are the leading features of familial Mediterranean fever (FMF), the most common autoinflammatory disorder in the world, transmitted as autosomal recessive trait caused by MEFV gene mutations. Their consequence is an abnormal function of pyrin, a natural repressor of inflammation, apoptosis and release of cytokines. FMF-related mutant pyrins are hypophosphorylated following RhoA GTPases’ impaired activity and show a propensity to relapsing uncontrolled systemic inflammation with inappropriate response to inflammatory stimuli and leukocyte spread to serosal membranes, joints or skin. Typical FMF phenotype 1 consists of brief episodes of inflammation and serositis, synovitis, and/or erysipelas-like eruption, whereas phenotype 2 is defined by reactive amyloid-associated (AA) amyloidosis, which is the most ominous complication of FMF, in otherwise asymptomatic individuals. Furthermore, FMF phenotype 3 is referred to the presence of two MEFV mutations with neither clinical signs of FMF, nor AA amyloidosis. The influence of epigenetic and/or environmental factors can contribute to the variable penetrance and phenotypic heterogeneity of FMF. Colchicine, a tricyclic alkaloid with anti-microtubule and anti-inflammatory properties, is the bedrock of FMF management: daily administration of colchicine prevents the recurrence of FMF attacks and the development of secondary AA amyloidosis. Many recent studies have also shown that anti-interleukin-1 treatment is actually the best therapeutic option for FMF patients nonresponsive or intolerant to colchicine. This review aims to catch readers’ attention on the clinical diversity of phenotypes, differential diagnosis, and management of patients with FMF.

scholarly journals Idiopathic Uveitis and Familial Mediterranean Fever: Is There Any Relationship?

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Ozra Yasrebi ◽  
Mahsa Hosseini Khotbesara ◽  
Maryam Hosseini Khotbesara
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Process ◽  
Mefv Gene ◽  
Gene Mutations ◽  
The Other ◽  
Blurred Vision ◽  
Mefv Mutations ◽  
Auto Inflammatory Disease ◽  
Mediterranean Fever ◽  
Positive Results

Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by attacks of fever and polyserositis. FMF is often associated with other autoimmune diseases such as rheumatoid arthritis, polyarteritis nodosa (PAN), and Behcet. Uveitis is an inflammatory process caused by underlying infectious and inflammatory disorders. This study investigates the probable relationship between idiopathic uveitis and FMF.Methods. Patients with idiopathic uveitis were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay (FMF StripAssay,Vienna lab,Vienna, Austria).Results. 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients were blurred vision and then eye redness. One patient was heterozygous for R761H. Genetic analysis of the 12 most common MEFV mutations in the patients with idiopathic uveitis didnot have any positive results.Conclusion. According to the analysis of the 12 most common MEFV gene mutations, FMF is not an underlying cause of idiopathic uveitis. On the other hand, uveitis merely could not be the first presentation of FMF.

scholarly journals POS1368 ANTI-IL-1 THERAPIES IN COLCHICINE-RESISTANT OR İNTOLERANT PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER: SINGLE CENTER EXPERIENCE

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 966.1-966
Author(s):  
M. E. Derin ◽  
B. Karakaş ◽  
B. Karataş ◽  
N. Çabuk Çelik ◽  
İ. Yalçin ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Interleukin 1 ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Recurrent Fever ◽  
Long Term Effects ◽  
Single Center Experience ◽  
Eular Recommendations ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a hereditary auto-inflammatory disease characterized by recurrent fever and serosal inflammation (1). The goal of FMF treatment is to prevent the attacks and to minimize subclinical inflammation between attacks The main treatment of FMF is colchicine however anti-interleukin-1 treatments are recommended in colchicine resistant and/or intolerant FMF patients (2).Objectives:The aim of this study is to evaluate the efficacy of anti-interleukin-1 (anti-IL-1) agents in 81 FMF patients with resistant/intolareted to colchicine or complicated with amyloidosis.Methods:Between January 2014 and December 2020, eighty-one patients who were diagnosed as FMF according to the criteria of Tel-Hashomer that following-up at Cumhuriyet University Medical Faculty Rheumatology-Internal Medicine Department were included in to the study.Results:45 (55.6%) male and 36 (44.4%) female were included in the study. The median age of the patients was 25 years (min:17-max: 60) and the median age at diagnosis was 15 years (min 3-max 46). 44 patients (54.3%) used Anakinra (100 mg/day), and 27 (45.7%) canakinumab (150mg/8month) were used. 49 cases were resistant to colchicine,16 were intolerant to colchicine, 16 (20%) cases were comlicated with amyloidosis. 10 patients had renal transplantation. MEFV gene mutations are shown in Table 1. Median duration of anti-IL-1 agent use was 24 month (min:4-max 52). 9 patients were resistant to anakinra, 18 patients had side effects which anakinra related. After a median follow up 12 months overall clinical response was %95 (frequency of attacks <1/6months). median proteinuria decreased from 3500 mg /day to median 1500 mg /day (p: 0.04) (Table 2). IL-6 treatment was started in 4 patients because of ineffective canakinumab. Five pregnant patients were followed up with anakinra during pregnancy and there were no problems.Conclusion:Anti-interleukin-1 agents are effectively and safely in the treatment of FMF patients. There are still unanswered questions in FMF treatment such as other factors affecting the frequency of attacks, colchicine resistance is not defined precisely and the importance of some mutations. The effect of anti IL-1 agents on FMF patients with amyloidosis is not clearly. According to our experience, these treatments are effective in patients with glomerular filtration rate> 60 ml/min. For answers to these and similar questions, Large and long follow-up studies are needed for long-term effects.References:[1]Özen S, Batu ED, Demir S., Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. Front Immunol. 2017 Mar 23;8:253. doi: 10.3389/fimmu.2017.00253. eCollection 2017.[2]Seza Özen ve ark. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016 Apr;75(4):644-51.Disclosure of Interests:None declared

Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

Biologia ◽  
2009 ◽  
Vol 64 (2) ◽  
Author(s):  
Binnur Koksal ◽  
Naim Nur ◽  
Musa Sari ◽  
Ferhan Candan ◽  
Mursit Acemoglu ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Disease ◽  
Mefv Gene ◽  
Point Mutations ◽  
Gene Mutations ◽  
Homozygous Mutation ◽  
Frequent Mutation ◽  
Mefv Mutations ◽  
Wide Range ◽  
Mediterranean Fever

AbstractFamilial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.

Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis

2012 ◽  
Vol 18 (9) ◽  
pp. 1229-1238 ◽  
Author(s):  
T Kümpfel ◽  
L-A Gerdes ◽  
T Wacker ◽  
A Blaschek ◽  
J Havla ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
German Population ◽  
Gene Group ◽  
Mefv Mutations ◽  
Mediterranean Fever ◽  
Group 2 ◽  
Group 1

Background: Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent febrile polyserositis. A possible association of FMF and multiple sclerosis (MS) has been suggested in cohorts from Turkey and Israel. Objective: The objective of this study was to investigate the prevalence of MEFV mutations in subjects with MS and in controls in Germany. Methods: One-hundred and fifty seven MS patients with at least one symptom or without symptoms suggestive of FMF from our outpatient clinic were investigated for mutations in exons 2, 3, and 10 of the MEFV gene (group 1). 260 independent MS patients (group 2) and 400 unrelated Caucasian controls (group 3) were screened selectively for the low-penetrance pyrin mutations E148Q and K695R Results: In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q ( n=7) substitution. Fifteen of the 19 mutation-positive individuals reported at least one symptom suggestive of FMF. In three cases, we could identify additional family members with MS. In these pedigrees, the E148Q exchange co-segregated with MS ( p=0.026). Frequencies of the pyrin E148Q and K695R mutations were not statistically different between MS group 2 and controls but they occurred with a surprisingly high frequency in the German population. Conclusion: The MEFV gene appears to be another immunologically relevant gene locus which contributes to MS susceptibility. In particular, the pyrin E148Q mutation, which co-segregated with disease in three MS families, is a promising candidate risk factor for MS that should be further explored in larger studies.

scholarly journals The Frequency of Familial Mediterranean Fever Gene Mutations and the Correlations between Phenotype and Genotype in Turkish Children

2020 ◽  
pp. 20-26
Author(s):  
Hakan Erdogan ◽  
Ayse Cavidan Sonkur ◽  
Orhan Görükmez ◽  
Ayse Erdogan ◽  
Dilek Damla Saymazlar ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mutation Screening ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Retrospective Case ◽  
Turkish Children ◽  
Pathogenic Variants ◽  
Frequent Mutations ◽  
Training And Research ◽  
Mediterranean Fever

Aim: Familial Mediterranian Fever is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 158 children (78 male, 80 female) diagnosed with Familial Mediterranean Fever (FMF) and to compare the phenotype-genotype correlation. Methods: In our retrospective case-control study, 158 FMF patients (78 males, 80 females) who were diagnosed with MEFV gene mutation in Bursa Yuksek Ihtisas Training and Research Hospital, Department of Pediatrics between January 2018 and June 2019 were included in the study.  Mutation screening of the MEFV gene was performed for 12 mutations and the 8 most common mutations were taken into the study. Results: Abdominal pain (77.8%), fever (74%) and arthralgia (46.2%) were the most prevalent clinical features in our patients. The most frequent mutations were M694V, E148Q, V726A, M680I and P369S. In cases with M694 mutation, it was noted that the incidence of arthritis was 2.5 times, appendectomy frequency 3.1 times higher, and early diagnosis probability 3.2 times higher. The frequency of chest pain was 2.9 times higher in the M680I mutation, and the frequency of arthralgia was 2.2 times higher in the P369S mutation. Conclusion: Patient’s mutations in FMF patients are important for clinical expectations, and some mutations such as P369S are not as innocent as expected. However, reevaluation of phenotypes of mutations that are rare with more patients will be significant. 

R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever

2017 ◽  
Vol 52 (6) ◽  
pp. 994-1003 ◽  
Author(s):  
Ö. Fentoğlu ◽  
G. Dinç ◽  
Ö. Bağcı ◽  
A. Doğru ◽  
İ. İlhan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Chronic Periodontitis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Mediterranean Fever

MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever

2010 ◽  
Vol 14 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Dalal A. El Gezery ◽  
Abla A. Abou-Zeid ◽  
Doaa I. Hashad ◽  
Hesham K. El-Sayegh
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Egyptian Patients ◽  
Mediterranean Fever
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