scholarly journals Genetic heterogeneity in familial Mediterranean fever: Comment on the article by Cazeneuve et al

2004 ◽  
Vol 50 (4) ◽  
pp. 1355-1355
Author(s):  
Ahmet Gul
Keyword(s):  
Familial Mediterranean Fever ◽  
Genetic Heterogeneity ◽  
Mediterranean Fever

scholarly journals Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

2018 ◽  
Vol 20 (12) ◽  
pp. 1583-1588 ◽  
Author(s):  
Gernot Kriegshäuser ◽  
Dietmar Enko ◽  
Hasmik Hayrapetyan ◽  
Stepan Atoyan ◽  
Christian Oberkanins ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Genetic Heterogeneity ◽  
Late Onset ◽  
Large Cohort ◽  
Mediterranean Fever

scholarly journals Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity

2000 ◽  
Vol 8 (4) ◽  
pp. 242-246 ◽  
Author(s):  
Cecile Domingo ◽  
Isabelle Touitou ◽  
Anne Bayou ◽  
Seza Ozen ◽  
Cecile Notarnicola ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Genetic Heterogeneity ◽  
Jewish Origin ◽  
Mediterranean Fever

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

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