scholarly journals APPENDECTOMY HISTORY IS ASSOCIATED WITH SEVERE DISEASE AND COLCHICINE RESISTANCE IN ADULT FAMILIAL MEDITERRANEAN FEVER PATIENTS

2021 ◽  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Disease ◽  
Colchicine Resistance ◽  
Mediterranean Fever

scholarly journals SAT0541 THE SEVERITY OF FMF MAY BE ASSOCIATED WITH CO-MORBIDITIES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1227.3-1228
Author(s):  
M. E. Tezcan ◽  
N. Şen ◽  
M. Yilmaz ◽  
Ö. Volkan ◽  
E. Tükel ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Scoring System ◽  
Disease Duration ◽  
Severe Disease ◽  
Smoking History ◽  
Disease Group ◽  
Severity Scoring ◽  
Mild Disease ◽  
Co Morbidity ◽  
Mediterranean Fever

Background:Familial Mediterranean fever (FMF) is an auto inflammatory disease with recurrent attacks of serositis. Frequent attacks and disease related sequels may be associated with co-morbidities in FMF patients.Objectives:One of the tools for evaluating the FMF severity is the international severity scoring system for FMF (ISSF)1. This score includes disease related sequels, acute phase measurements, attack features and exertional leg pain. Therefore, more severe disease may be link with subclinical inflammation, amyloidosis and frequent, prolonged and widespread attacks. All these components may augment the frequency of non-disease related co-morbidities.Methods:We enrolled 158 FMF patients who fulfilled modifiedTel-HashomerDiagnosisCriteria2. The patients dichotomized based upon disease severity (mild disease or severe disease). Patients with ISSF scores lower or equal to 2 were accepted to have mild disease. Then, we compared frequency of non-disease related co-morbidities between the groups. These co-morbidities arehypertension, hypothyroidism, hyperthyroidism cardiovascular diseases, coronary artery diseases, cerebrovascular diseases, chronic renal disease (non-FMF related), chronic obstructive pulmonary diseases, and diabetes mellitus. This study was approved by the Local Research Ethics Committee and carried out in compliance with the Helsinki Declaration. All the patients gave written informed consent. P-value lower than 0.05 was considered as statistically significant.Results:Demographic features, disease duration, smoking history and body mass index (BMI) were similar between the groups. Frequency of co-morbidity in severe disease group was statistically higher than mild disease group (p=0.02). Most frequent co-morbidity was hypertension in both groups.Table.Features of mild and severe FMF groupsMild (n=135)Severe (n=23)pGender (M/F)47/8811/120.23Age36.4±11.336.5±14.30.68Smoking (%)38 (28.1)5 (21.7)0.52BMI (kg/m2)24.3±9.224.0±8.90.34Disease duration (year)7.7±11.38.6±14.30.09Amyloidosis (%)2 (1.4)3 (13.0)0.02Exon 10 homozygote (%)35 (25.9)9 (39.1)0.19Colchicine dosage (mg/day)1.2±0.41.4±0.50.02ISSF scores0.7 ±0.73.4±0.5<0.001Co-morbidity (%)25 (18.5)9 (39.1)0.02Conclusion:In our FMF patient cohort, we found that severity of the disease may be associated with higher frequency of co-morbidities. Therefore, clinicians should be aware of the high possibility of co-morbidities in patients with more severe FMF and addressed these co-morbidities timely and properly.References:[1]Demirkaya E, et al. Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF). Ann Rheum Dis 2016;75:1051-6.[2]Berkun Y, et al. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev 2014;13:388-90.Acknowledgments:NoneDisclosure of Interests:None declared

AB0980 CASE-REVIEW ON FAMILIAL MEDITERRANEAN FEVER IN A SPECIALIZED CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1784.1-1784
Author(s):  
R. Dos Santos Sobrín ◽  
M. Martí Masanet ◽  
B. Lopez-Montesinos ◽  
L. Lacruz Pérez ◽  
I. Calvo
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Severe Disease ◽  
Strong Association ◽  
Mefv Gene ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Case Series ◽  
Case Review ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder caused mostly by mutations in MEFV gene. Its inheritance is autosomal recessive and is the most frequent periodic fever syndrome. First-line treatment is based in colchicine use, so biologics (anti-IL-1) are reserved for refractory cases1, 2.Objectives:To account for clinic and treatment features of patients with FMF in a specialized center as opposed to non-referent centers.Methods:This study was developed in the Pediatric Rheumatology Service in Hospital Universitario y Politécnico La Fe de Valencia. Demographic, clinic and treatment data were collected from patients diagnosed of FMF since January 2004 to September 2019.Results:106 patients met last FMF criteria3. 55% had a pathogenic mutation in genetic analysis. 52% were female. Before 10 years old, 71% of patients had the diagnosis (51% before 4 years old). Arthralgia/myalgia (73%), periodic fever (62%) and abdominal pain (54%) were the most common symptoms. Systemic Juvenile Idiopathic Arthritis (JIA, 6), other forms of JIA (9) and vasculitis (10) were the most prevalent comorbidities. When talking about treatment, 76,4% received Colchicine (60,5% with good response), 22,6% needed a classical disease modifying antirheumatic drug (mostly Methotrexate) and 22 patients got biologic treatment (73% anti-IL-1).Conclusion:When analyzing this case-review, JIA has a strong association with our patients, so it could explain severe disease activity and more articular involvement. This could be an illustration to the higher use of Methotrexate. Also, the most relevant symptom was arthralgia while fever is the most frequent in literature. Likewise, age of diagnosis has been earlier than other case-series (this would be more frequent in other autoinflammatory syndromes, as literature relates)1, 2, 4.References:[1]Ozdogan H, Ugurlu S. Familial Mediterranean Fever. Presse Med. (2019).[2]Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016;75:644-651.[3]Sag E, Demirel D, Demir S, et al. Performance of the new “Eurofever/PRINTO classification criteria” in FMF patients. Semin Arthritis Rheum. 2019;19:30369-5.[4]Rozenbaum M, Rosner I. Severe outcome of juvenile idiopathic arthritis (JIA) associated with familial Mediterranean fever (FMF). Clin Exp Rheumatol. 2004;22:S75-8.Disclosure of Interests:Raquel Dos Santos Sobrín: None declared, Miguel Martí Masanet: None declared, B Lopez-Montesinos: None declared, Lucía Lacruz Pérez: None declared, Inmaculada Calvo Grant/research support from: Bristol-Myers Squibb, Clementia, GlaxoSmithKline, Hoffman-La Roche, Merck Sharpe & Dohme, Novartis, Pfizer, Sanofi, Speakers bureau: AbbVie, GlaxoSmithKline, Hoffman-La Roche, Novartis

Enthesitis may be one of the signs of severe disease in familial Mediterranean fever

2020 ◽  
Author(s):  
Nesrin Sen ◽  
Mesut Yilmaz ◽  
Ridvan Mercan ◽  
Omur Volkan ◽  
Sibel Yilmaz-Oner ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Disease ◽  
Mediterranean Fever

scholarly journals Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a modified-Delphi consensus approach

Rheumatology ◽  
2020 ◽  
Author(s):  
Seza Özen ◽  
Erdal Sag ◽  
Eldad Ben-Chetrit ◽  
Marco Gattorno ◽  
Ahmet Gül ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Nominal Group ◽  
Evidence Based ◽  
Delphi Consensus ◽  
Modified Delphi ◽  
Health Authorities ◽  
Colchicine Resistance ◽  
Mediterranean Fever ◽  
Definition Of ◽  
The Impact

Abstract Objectives Colchicine is the main treatment for familial Mediterranean fever (FMF). Although a number of individuals with FMF are intolerant/resistant to colchicine, there is no standard definition of colchicine resistance/intolerance. We developed a set of evidence-based core statements defining colchicine resistance/intolerance in patients with FMF that may serve as a guide for clinicians and health authorities. Methods A set of statements was identified using a modified-Delphi consensus-based approach. The process involved development of an initial colchicine resistance/intolerance-related questionnaire derived from a systematic literature review. The questionnaire, which was completed by an international panel of 11 adult and pediatric rheumatologists with expertise in FMF, was analysed anonymously. The results informed draft consensus statements that were discussed by a round-table expert panel, using a nominal group technique to agree on the selection and wording of the final statements. Results Consensus among the panel was achieved on 8 core statements defining colchicine resistance/intolerance in patients with FMF. A definition of resistance was agreed upon that included recurrent clinical attacks (average one or more attacks per month over a 3-month period), or persistent laboratory inflammation in between attacks. Other core statements recognize the importance of assessing treatment adherence, and the impact of active disease and intolerance to colchicine on quality of life. Conclusion Based on expert opinion, a set of evidence-based core statements defining colchicine resistance/intolerance in patients with FMF were identified to help guide clinicians and health authorities in the management of patients with FMF.

Association between colchicine resistance and vitamin D in familial Mediterranean fever

Renal Failure ◽  
2015 ◽  
Vol 37 (7) ◽  
pp. 1122-1125 ◽  
Author(s):  
Ismail Ozer ◽  
Turkan Mete ◽  
Ozlem Turkeli Sezer ◽  
Guyem Kolbasi Ozgen ◽  
Gultekin Ozan Kucuk ◽  
...  
Keyword(s):  
Vitamin D ◽  
Familial Mediterranean Fever ◽  
Colchicine Resistance ◽  
Mediterranean Fever

scholarly journals Can the Thiol/Disulfide Imbalance Be a Predictor of Colchicine Resistance in Familial Mediterranean Fever?

2017 ◽  
Vol 32 (10) ◽  
pp. 1588 ◽  
Author(s):  
Ahmet Omma ◽  
Sevinc Can Sandikci ◽  
Orhan Kücüksahin ◽  
Murat Alisik ◽  
Ozcan Erel
Keyword(s):  
Familial Mediterranean Fever ◽  
Colchicine Resistance ◽  
Mediterranean Fever

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.

scholarly journals Endocan: A Novel Marker for Colchicine Resistance in Familial Mediterranean Fever Patients?

2021 ◽  
Vol 9 ◽  
Author(s):  
Ahmet Omma ◽  
Berkan Armaǧan ◽  
Serdar Can Güven ◽  
Sevinç Can Sandıkçı ◽  
Seda Çolak ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Acute Phase ◽  
Inflammatory Diseases ◽  
Cross Sectional Study ◽  
Control Group ◽  
Healthy Individuals ◽  
Acute Phase Reactants ◽  
Cross Sectional ◽  
Colchicine Resistance ◽  
Mediterranean Fever

Introduction: Familial Mediterranean fever (FMF) patients had 5–10% colchicine resistance. Although FMF attacks are characterized by acute phase elevation, there are no biomarkers that can show colchicine resistance yet. The serum endocan levels may elevate in inflammatory and auto-inflammatory diseases.Objectives: This study aimed to evaluate serum endocan levels in FMF patients according to whether attack and colchicine resistance or not and also compare them with classical acute phase reactants.Methods: In this single-center and cross-sectional study, a total of 111 FMF patients and 60 healthy individuals were enrolled. All patients' basic demographic and clinical data were recorded and blood samples were collected.Results: A total of 46 (41.4%) FMF patients had colchicine resistance. In comparison to the FMF patients according to colchicine response, colchicine resistance patients had a significantly higher median (IQR) endocan levels than colchicine responsive patients [36.98 ng/ml (97.41) vs. 13.57 ng/ml (27.87), p = 0.007], but there were no differences between in terms of median ESR and CRP levels. Inversely, serum endocan levels were similar during an attack and attack-free period in FMF patients, although ESR and CRP levels were significantly different. Interestingly, the highest serum endocan levels were in the control group.Conclusion: In conclusion, serum endocan levels were higher in colchicine resistance than colchicine responsive patients, but attack state had no effect on serum endocan levels in our study. Unlike ESR and CRP, serum endocan may be a novel biomarker for detection of colchicine resistance and distinguish the FMF attacks.

scholarly journals SAT0513 ASSOCIATION OF SERUM OMENTIN LEVELS WITH COLCHICINE RESISTANCE IN FAMILIAL MEDITERRANEAN FEVER

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1212.1-1213
Author(s):  
S. Can Sandikci ◽  
A. Omma ◽  
C. Yucel ◽  
T. Omma
Keyword(s):  
Familial Mediterranean Fever ◽  
Sedimentation Rate ◽  
Serum Amyloid A ◽  
Control Group ◽  
C Reactive Protein ◽  
Reactive Protein ◽  
Amyloid A ◽  
Erythrocyte Sedimentation ◽  
Colchicine Resistance ◽  
Mediterranean Fever

Background:Omentin is an anti-inflammatory adipokine, which plays important roles in the adjustments of glucose metabolism, cardiovascular homeostasis, atherosclerosis (1).Objectives:To investigate the omentin levels in Familial Mediterranean fever (FMF) patients and to assess the association with markers of subclinical inflammation in FMF patients such as serum amyloid A (SAA), erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP).Methods:This cross-sectional study included 54 consecutive adult FMF patients (27 male, 27 female) and 28 healthy individuals (16 male, 12 female). The demographic and clinical features and MEFV gene mutations were recorded. The FMF patients were separated into 3 groups: 1) attack-free group, 2) active attack group and 3) colchicine-resistant group. Serum omentin levels were compared between the FMF patients and the healthy control group.Results:Serum omentin and SAA levels were higher in the study group than in the control group (108.05(19.97-343.22) vs. 199.5(42.98-339.41) p<0.05, 3.69(1.18-22.75) vs. 1.31(0.95-3.16) p<0.001) (Table 1). When the FMF patients were examined as separate groups, serum omentin values were lower in the colchicine resistant group than in the groups without resistance (Table 2). The correlation analysis showed a negative correlation between omentin and SAA levels (r = -0.240, p = 0.030).Table 1.Laboratory results of the FMF and the control groupVariablesFMF patients(n=54)Control(n=28)P valueOmentin, pg/mL108.05(19.97-343.22)199.5(42.98-339.41)0.03SAA, ng/mL3.7 (1.18-22.75)1.31(0.95-3.16)<0.001ESR, mm/h15(2-68)12(7-17)<0.001CRP, mg/L12(1-194)2.5(1-8)<0.001Variables were given as median (IQR).Calculated using Mann-Whitney U test for non-normal distribution.FMF=Familial Mediterranean fever, SAA=serum amyloid A, ESR=erythrocyte sedimentation rate, CRP=C-reactive protein, IQR=interquartile range.Table 2.Laboratory results of FMF patients with and without colchicine resistanceVariablesWith resistance(n=16)Without resistance(n=38)P valueOmentin, pg/mL76.64(19.77-224.33)186.47(28.41-343.21)0.006SAA, ng/mL3.69(1.18-22.75)3.77(1.18-21.49)0.784ESR, mm/h25.5(2-68)15(2-60)0.835CRP, mg/L11(1-67)19(1-194)0.111Variables were given as median (IQR).Calculated using Mann-Whitney U test for non-normal distribution.FMF=Familial Mediterranean fever, SAA=serum amyloid A, ESR=erythrocyte sedimentation rate, CRP=C-reactive protein, IQR=interquartile range.FOMConclusion:FMF patients with colchicine resistance are associated with decreased omentin concentrations, probably mediated by inflammation-driven mechanisms.References:[1]Yue J, Chen J, Wu Q, Liu X, Li M, Li Z, Gao Y. Serum levels of omentin-1 association with early diagnosis, lesion volume and severity of acute ischemic stroke. Cytokine. 2018;111:518–522.Disclosure of Interests:None declared

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