scholarly journals Familial Mediterranean fever patients with prominent musculoskeletal symptoms may be classified in a distinct subgroup

2021 ◽  
Vol 13 (3) ◽  
pp. 140-141
Author(s):  
Mehmet Engin Tezcan
Keyword(s):  
Familial Mediterranean Fever ◽  
Musculoskeletal Symptoms ◽  
Distinct Subgroup ◽  
Mediterranean Fever

scholarly journals POS1302 THE MUSCULOSKELETAL SYSTEM MANIFESTATIONS IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 933.1-933
Author(s):  
F. Demir ◽  
S. Canbek ◽  
B. Sözeri
Keyword(s):  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Musculoskeletal Symptoms ◽  
Compound Heterozygous ◽  
M694v Mutation ◽  
Musculoskeletal Manifestations ◽  
Mediterranean Fever ◽  
Calf Pain

Background:Familial Mediterranean fever (FMF) is a monogenic inherited periodic fever syndrome presenting with episodes of self-limiting fever and inflammation of serosal membranes. The attacks emerge with arthritis were defined as one of the major diagnostic criteria besides involvement of serosal membranes. Non-specific musculoskeletal findings such as myalgia, arthralgia, transient synovitis, and more rare manifestations like protracted febrile myalgia can also be seen in FMF patients attacksObjectives:We aim to reveal the frequency and genotype association of musculoskeletal manifestations in children with FMF.Methods:The patients diagnosed with FMF between January 1, 2017 and June 1, 2019, and followed for at least 6 months in our pediatric rheumatology clinic were included in the study. Musculoskeletal manifestations of patients were enrolled. The patients were grouped according to the “Mediterranean Fever” (MEFV) gene variants. Musculoskeletal manifestations of the patients were compared between the groupsResults:The study group included 634 children with FMF (336 female and 298 male, F/M: 1.13/1). The clinical manifestations of patients in attack period were as follows: 99% of the patients had fever, 87.3% had abdominal pain, 20.7% had chest pain, 11.3% had vomiting, 10.7% had erysipelas like erythema, and 9.3% had headache. The musculoskeletal symptoms were accompanied by 58.6% (n: 372) of the patients during the attack period. The most common musculoskeletal manifestation was found as arthralgia (32.6%, n: 206). Also, the other musculosceletal manifestations were found as follows during attacks; arthritis in 23.7% (n: 150), myalgia in 20.5% (n: 130), exertional calf pain in 6.5% (n: 41), and protracted febrile myalgia in 1% (n: 7) of the patients. It was observed that the musculoskeletal manifestations were significantly higher in patients with homozygous M694V variant in exon-10 (p=0.017). Also, it was found that the musculoskeletal manifestations are more common in the attack periods of patients carrying the M694V variant in at least one allele (p = 0.019).Conclusion:It was determined that the musculoskeletal manifestations were seen as an attack symptom in more than half of FMF patients. Also, homozygous and compound heterozygous MEFV mutations including M694V variant found as a risk factor for emerge of musculoskeletal manifestations. In children with unexplained and recurrent musculoskeletal symptoms, especially in ethnicities with the high frequency of FMF, analysis of MEFV gene can help reveal the underlying cause.References:[1]Brik R, Shinawi M, Kasinetz L, Gershoni-Baruch R. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum 2001;44:1416-9.[2]Jarjour RA, Dodaki R. Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. Mol Biol Rep 2011;38:2033-6.Disclosure of Interests:None declared

E148Q of the MEFV Gene Causes Amyloidosis in Familial Mediterranean Fever Patients

PEDIATRICS ◽  
2001 ◽  
Vol 108 (1) ◽  
pp. 215-215 ◽  
Author(s):  
N. Akar ◽  
E. Akar ◽  
F. Yalcinkaya; ◽  
G. J. Halpern ◽  
A. Mimouni ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Mediterranean Fever

scholarly journals AB0730 ASSOCIATION OF SPONDYLOARTHRITIS AND FAMILIAL MEDITERRANEAN FEVER AND IMPACT ON DISEASE PHENOTYPE: A SYSTEMATIC REVIEW OF THE LITERATURE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1659.3-1659
Author(s):  
N. Ziade ◽  
A. Nassar
Keyword(s):  
Disease Management ◽  
Familial Mediterranean Fever ◽  
Literature Search ◽  
Association Studies ◽  
Case Reports ◽  
Genome Wide Association Studies ◽  
Systematic Literature Search ◽  
Disease Phenotype ◽  
Mefv Mutation ◽  
Mediterranean Fever

Background:Spondyloarthritis (SpA) and Familial Meditaerranean fever (FMF) may co-exist in certain populations, and have some overlapping manifestations (oligo-arthritis, hip involvement). Their association may impact disease phenotype and may affect disease management.Objectives:To evaluate the association of SpA and FMF and its impact on disease phenotype and management.Methods:A systematic literature search was conducted with the keywords spondyloarthritis and familial mediterranean fever from Janurary 1990 to January 2020 in PubMed and using manual cross-reference methods.Results:The search retrieved 74 articles, out of which 37 articles were relevant to the study question; most of the articles were case reports, with some large cohort studies of FMF and SpA (Flowchart in Figure 1).In large FMF cohorts, the prevalence of SpA was higher compared to the general population (7.5-13%, OR around 10). M694V was a risk factor for SpA. These FMF-SpA patients were older at diagnosis, had lower fever attacks, and higher disease duration, inflammatory back pain, chronic arthritis, enthesopathy, persistent inflammation and higher resistance to Colchicine. In case series, they were responsive to anti-TNF therapy.In large SpA cohorts, MEFV mutation, particularly M694V, was found in 15-35% (even without associated FMF). In most cohorts, MEFV mutation carriers didn’t have any distinct disease phenotype, except for some reports of higher ESR, more hip involvement, higher BASFI and higher BASDAI. Genome-wide association studies and case reports suggest an implication for IL-1 and thus a role for Anakinra therapy in these patients.Conclusion:In FMF or SpA patients with resistance to conventional therapy, the evaluation of disease association should be performed as it may have significant impact on disease management.References:[1]Li et al, Plos Genetics 2019. Watad et al, Frontiers Immunol 2019. Atas et al, Rheumatol Int 2019. Cherqaoui et al, JBS 2017. Zhong et al. Plos One 2017. Ornek et al, Arch Rheumatol 2016. Cinar et al, Rheumatol Int 2008. Durmur et al, JBS 2007.Figure 1.Flowchart of the systematic literature search (Spondyloarthritis, Familial Mediterranean Fever; January 1990-2020).Disclosure of Interests:Nelly Ziade Speakers bureau: Abbvie, Janssen, Lilly, Novartis, Pfizer, Roche, Sanofi, Aref Nassar: None declared

scholarly journals AB0419 THE COEXISTENCE OF FAMILIAL MEDITERRANEAN FEVER (FMF) IN SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) PATIENTS - A CROSS SECTIONAL STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1509.1-1510
Author(s):  
T. Klein ◽  
S. Tiosano ◽  
A. Chohen ◽  
H. Amital
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Familial Mediterranean Fever ◽  
Lupus Erythematosus ◽  
Cross Sectional Study ◽  
Review Of The Literature ◽  
Sectional Study ◽  
Systemic Lupus ◽  
Cross Sectional ◽  
Mediterranean Fever ◽  
Age And Sex

Background:Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease characterized by multisystem inflammatory lesions affecting many organ systems in the body. Familial Mediterranean fever (FMF) is an autosomal recessive disease of chronic autoimmune inflammation characterized by frequently relapsing self-limiting fever and inflammation that may be localized in peritoneum, pleura, joint or skin.1Previous studies have described the similarity of clinical symptoms of FMF among SLE patients. However, the literature on this topic is inconsistent and based mostly on case reports.2-4Objectives:To examine the proportions of coexistence of FMF among SLE patients compared to the general population. We hypothesized that the proportion of FMF among SLE patients is higher than the general population.Methods:This cross-sectional study used the Clalit Health Services database, the largest Health Maintenance Organization in Israel, serving 4,400,000 members. SLE patients were compared to age- and sex-matched controls. Chi- was used for univariate analysis.Results:The study included4886 SLEpatients and 24430 age- and sex-matched controls. The SLE group had a significantly higher proportion of FMF patients compared to non-SLE controls (0.68% and 0.21% respectively; p < 0.001).Table 1. All study populationTable 1.SLE patients and matched controls basic characteristicsNo SLESLEp.overallN=24430N=4886Age51.2±16.551.2±16.51.000Gender: Female20100 (82.3%)4020 (82.3%)1.000FMF52 (0.21%)33 (0.68%)<0.001Table 2. StratificationTable 2.comparison of FMF patients with and without SLEFMF without SLEFMF with SLEp.overallN=52N=33Age44.6±13.750.5±17.70.106Gender: Female45 (86.5%)26 (78.8%)0.523Conclusion:FMF was found to be more common amongst SLE patients compared to matched controls.The current study results suggest that the occurrence of SLE turn patients with an appropriate genetic and environmental setting to develop also FMF. This cross-sectional study sheds light on the coexistence of these two diseases, autoimmune and autoinflammatory.References:[1]Kucuk A, Gezer IA, Ucar R, Karahan AY. Familial mediterranean fever.Acta Medica (Hradec Kralove). 2014;57(3):97-104.[2]Lidar M, Zandman-Goddard G, Shinar Y, Zaks N, Livneh A, Langevitz P. SLE and FMF: A possible negative association between the two disease entities–report of four cases and review of the literature.Lupus. 2008;17(7):663-669.[3]Erten S, Taskaldiran I, Yakut ZI. Are systemic lupus erythematosus patients carrying MEFV gene less prone to renal involvement? report of three cases and review of the literature.Ren Fail. 2013;35(7):1013-1016.[4]Shinar Y, Kosach E, Langevitz P, et al. Familial mediterranean Fever gene (MEFV) mutations as a modifier of systemic lupus erythematosus.Lupus. 2012;21(9):993-998.Disclosure of Interests: :None declared

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

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