MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis

Zhong, Leilei; Song, Hongmei; Wang, Wei; Li, Ji; Ma, Ming

doi:10.1371/journal.pone.0182967

Cited by 14 publications

(7 citation statements)

References 52 publications

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“…This Th17 polarization in IL-1-mediated disease has been shown to occur in familial Mediterranean fever (FMF) patients as well [41]. Interestingly, in FMF, up to 3% of the patients will eventually develop often HLA-B27-negative spondyloarthropathy, mainly sacroiliitis [42,43]. It is noteworthy that our patients were also all HLA-B27 negative.…”

Section: The Example Of a Recent Case Series: New Articular Form Of Aosd Or Alternate Diagnosis Of An Associated Inflammatory Joint Diseasupporting

confidence: 58%

Clinical Phenotypes of Adult-Onset Still’s Disease: New Insights from Pathophysiology and Literature Findings

Mitrovic

Fautrel

2021

JCM

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Adult-onset Still’s disease (AOSD) is a non-familial, polygenic systemic autoinflammatory disorder. It is traditionally characterized by four cardinal manifestations—spiking fever, an evanescent salmon-pink maculopapular rash, arthralgia or arthritis and a white-blood-cell count (WBC) ≥ 10,000/mm3, mainly neutrophilic polymorphonuclear cells (PMNs)—but many other manifestations and complications can be associated, making clinical expression very heterogeneous and diagnosis sometimes difficult. The AOSD course can be diverse and is currently impossible to predict. Several clinical phenotypes have been described, either on the basis of the evolution of symptoms over time (monocyclic, polycyclic and chronic evolution) or according to dominant clinical evolution (systemic and arthritis subtypes). However, these patterns are mainly based on case series and not on robust epidemiological studies. Furthermore, they have mainly been established a long time ago, before the era of the biological treatments. Thus, based on our personal experience and on recent advances in the understanding of disease pathogenesis, it appears interesting to reshuffle AOSD phenotypes, emphasizing the continuum between AOSD profiles and other systemic autoinflammatory disorders, eventually proposing a research agenda.

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Section: The Example Of a Recent Case Series: New Articular Form Of Aosd Or Alternate Diagnosis Of An Associated Inflammatory Joint Diseasupporting

confidence: 58%

Clinical Phenotypes of Adult-Onset Still’s Disease: New Insights from Pathophysiology and Literature Findings

Mitrovic

Fautrel

2021

JCM

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“…(12) Enthesopathy and sacroiliitis occur in some FMF patients, and up to 7.5% of FMF patients are simultaneously diagnosed with AS. (20) enthesitis related arthritis (ERA). The presence of two patients with homozygous M694V mutations while they lacked other clinical features of FMF at diagnosis of their JIA, also suggests that ERA should be considered in FMF patients.…”

Section: Resultsmentioning

confidence: 99%

Recurrent Synovitis of Hip and MEFV Gene Related Arthritis in Children

Salehzadeh¹,

Mirzarahimi²

2020

Preprint

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Background : Recurrent and relapsing arthritis has been proposed to describe a group of arthritis with recurring and periodic nature, in which the joints are intermittently involved. This study reports three non-FMF patients with heterozygous MEFV gene mutations and an extraordinary arthritis as a recurrent synovitis of hip (RSH) Methods : During 16-years from 2003 to 2019 at pediatric rheumatologic clinic among 195 recorded files with chronic oligoarthritis, 3 patients with diagnosis of recurrent synovitis of hip (RSH) were reviewed thoroughly. Peripheral blood was collected from patients and the samples were screened for the 12 common MEFV gene pathogenic variants. Results: This study included three patients, two female and one male with relapsing idiopathic arthritis that has been located on hip joints as a sole manifestation and pathologic findings of MEFV mutations as follow: A744S, V726A, and R761H. Conclusion : On the basis of possible role of MEFV gene in different rheumatic disease, MEFV gene related arthritis may be considered as a background of RSH particularly in Mediterranean area.

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“…Enthesopathy and sacroiliitis occur in some FMF patients, and up to 7.5% of FMF patients are simultaneously diagnosed with Ankylosing Spondyloarthropathy (AS) [20].…”

Section: Discussionmentioning

confidence: 99%

Recurrent synovitis of hip and MEFV gene related arthritis in children

Salehzadeh

Mirzarahimi

2020

Pediatr Rheumatol

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Background: Recurrent and relapsing arthritis has been proposed to describe a group of arthritis with recurring and periodic nature, in which the joints are intermittently involved. This study reports three non-FMF patients with heterozygous MEFV gene mutations and an extraordinary arthritis as a recurrent synovitis of hip (RSH). Methods: During 16-years from 2003 to 2019 at pediatric rheumatologic clinic among 195 recorded files with chronic oligoarthritis, 3 patients with diagnosis of recurrent synovitis of hip (RSH) were reviewed thoroughly. Peripheral blood was collected from patients and the samples were screened for the 12 common MEFV gene pathogenic variants. Results: This study included three patients, two female and one male with relapsing idiopathic arthritis that has been located on hip joints as a sole manifestation and pathologic findings of MEFV mutations as follow: A744S, V726A, and R761H. Conclusion: On the basis of possible role of MEFV gene in different rheumatic disease, MEFV gene related arthritis may be considered as a background of RSH particularly in Mediterranean area.

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MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis

Cited by 14 publications

References 52 publications

Clinical Phenotypes of Adult-Onset Still’s Disease: New Insights from Pathophysiology and Literature Findings

Clinical Phenotypes of Adult-Onset Still’s Disease: New Insights from Pathophysiology and Literature Findings

Recurrent Synovitis of Hip and MEFV Gene Related Arthritis in Children

Recurrent synovitis of hip and MEFV gene related arthritis in children

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