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

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 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. 

scholarly journals A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

Reumatismo ◽  
2019 ◽  
Vol 71 (2) ◽  
pp. 85-87
Author(s):  
S. Farjadian ◽  
F. Bonatti ◽  
A. Soriano ◽  
M. Reina ◽  
A. Adorni ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Present Report ◽  
Case Reports ◽  
Mefv Gene ◽  
Recurrent Fever ◽  
Iranian Patient ◽  
Mediterranean Fever ◽  
Exon 10

Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving the intra-abdominal organs, the lungs and the joints, which is highly prevalent in specific ethnic groups including the Iranians. We report a 12-year-old boy from Iran, with a clinical history of recurrent fever. Based on the suggestive clinical data, mutational analysis revealed the presence of the novel c.1945C>T heterozygous variant in exon 10, which leads to a leucine to phenylalanine change at position 649 of the protein. The mutation was inherited from the mother. This novel mutation lies in exon 10 of the MEFV gene, which encodes for a domain called B30.2-SPRY, located in the C-terminal region of the pyrin protein and contains the most frequent mutations associated with FMF. The present report expands the spectrum of MEFV gene mutations associated with FMF. The uniqueness of this study, compared with other published case reports, consists in the new mutation found in the MEFV gene. In fact, new mutations in this gene are of high interest, in order to better understand the role of this gene in autoinflammation.

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

scholarly journals Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Yunus Ugan ◽  
Atalay Doğru ◽  
Hüseyin Şencan ◽  
Mehmet Şahin ◽  
Şevket Ercan Tunç
Keyword(s):  
Familial Mediterranean Fever ◽  
Polyarteritis Nodosa ◽  
Autosomal Recessive ◽  
Mefv Gene ◽  
Autosomal Recessive Inheritance ◽  
Recurrent Fever ◽  
Autoinflammatory Disorder ◽  
Chromosome 16 ◽  
Mediterranean Fever ◽  
Schonlein Purpura

Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN). We have presented here a fairly rare case of FMF, accompanied by both sacroiliitis and PAN.

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

scholarly journals Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria

2021 ◽  
Vol 36 (4) ◽  
pp. 493-498
Author(s):  
Rabia Miray Kışla Ekinci ◽  
Sibel Balcı ◽  
Ahmet Hakan Erol ◽  
Dilek Karagöz ◽  
Derya Ufuk Altıntaş ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Sensitivity And Specificity ◽  
Mefv Gene ◽  
Classification Criteria ◽  
Recurrent Fever ◽  
Control Group ◽  
Mevalonate Kinase Deficiency ◽  
Cross Sectional ◽  
M694v Mutation ◽  
Mediterranean Fever

Objectives: In this study, we aimed to investigate the performance of Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) classification criteria in pediatric patients with familial Mediterranean fever (FMF). Patients and methods:This retrospective, cross-sectional study included a total of 130 pediatric FMF patients (67 males, 63 females; mean age: 12.4±3.6 years; range, 2.5 to 17.7 years) with at least one M694V mutation in MEFV gene between July 2010 and July 2019. Demographic features and disease characteristics were recorded. The control group was consisted of 41 patients (19 males, 22 females; mean age: 7.8±4.0 years; range, 2.1 to 17.8 years) with other hereditary autoinflammatory diseases (AIDs), including periodic fevers with aphthous stomatitis, pharyngitis, and adenitis syndrome (n=30), mevalonate kinase deficiency (n=9), and tumor necrosis factor receptor-associated periodic syndrome (n=2). Sensitivity and specificity of the Eurofever/PRINTO classification criteria were calculated. Results: The sensitivity and specificity were 97.7% and 56.1% for Yalcinkaya-Ozen criteria, respectively and 93.1% and 90.2% for Tel Hashomer criteria, respectively. The Eurofever/PRINTO classification criteria reached a sensitivity and specificity of 94.6% and 82.9% and 93.1% and 80.5%, respectively, when genetic plus clinical criteria and clinical-only criteria were applied. Conclusion: The Eurofever/PRINTO classification criteria have a comparable sensitivity for avoidance of FMF underdiagnosis in childhood. The Yalcinkaya-Ozen criteria have the highest sensitivity without a significant specificity. The Tel Hashomer criteria and Eurofever/PRINTO classification criteria were superior to Yalcinkaya-Ozen criteria to differentiate FMF from other AIDs, thus leading to less complications relevant to underdiagnosis of other AIDs.

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