The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis

Kaşifoğlu, Timuçin; Çalışır, Cüneyt; Cansu, Döndü Üsküdar; Korkmaz, Cengiz

doi:10.1007/s10067-008-0980-3

Cited by 90 publications

(78 citation statements)

References 13 publications

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“…On the other hand, the absence of HLA B27 and lumbar spinal involvement are considered to be characteristics of FMF musculoskeletal manifestations (8,21,22). The frequency of sacroiliitis in FMF patients has been reported to be higher than expected in Turkish patients (20,21). In our experience, AS is common in FMF patients and has a more severe disease course.…”

Section: Discussionsupporting

confidence: 47%

“…Some authors suggested that FMF may be included in the spectrum of diseases with seronegative spondyloarthropathy (8). On the other hand, the absence of HLA B27 and lumbar spinal involvement are considered to be characteristics of FMF musculoskeletal manifestations (8,21,22). The frequency of sacroiliitis in FMF patients has been reported to be higher than expected in Turkish patients (20,21).…”

Section: Discussionmentioning

confidence: 99%

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MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Maraş¹,

Akdoğan²,

Kısacık³

et al. 2014

Turk J Med Sci

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Section: Discussionsupporting

confidence: 47%

Section: Discussionmentioning

confidence: 99%

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Maraş¹,

Akdoğan²,

Kısacık³

et al. 2014

Turk J Med Sci

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“…However, in less than 10% of patients arthritis runs a more complicated pro-tracted course leading to functional disability and potentially prosthetic joint replacement [5][6][7]. There is a well-established link between FMF and ankylosing spondylitis (AS) where sacro-iliitis prevalence is estimated to be 7% in those with musculoskeletal manifestations [8]. The exact role of HLA-B27 in the development of sacro-iliitis is still controversial [8,9].…”

Section: Introductionmentioning

confidence: 99%

“…There is a well-established link between FMF and ankylosing spondylitis (AS) where sacro-iliitis prevalence is estimated to be 7% in those with musculoskeletal manifestations [8]. The exact role of HLA-B27 in the development of sacro-iliitis is still controversial [8,9]. On the other hand, it has been established that M694V mutation is associated with the most severe clinical form of FMF.…”

Section: Introductionmentioning

confidence: 99%

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The role of adalimumab in the treatment of colchicine-resistant familial mediterranean fever: a case report

Issa

Noureddine

2016

Int Arch Med

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Familial Mediterranean fever (FMF) is an autosomal recessive inherited disorder. Articular manifestations are the second most common presentation in FMF patients after abdominal pain. Colchicine remains the gold standard of therapy for the different aspects of the disease. However, about 5-15% of patients experience resistance to colchicine. Therefore, physicians were encouraged to try different medications and treatment modalities. Biologic agents were used in several FMF patients with various clinical presentations including articular involvement. In the majority of those, there was a good clinical response with improvement in the quality of life. Adalimumab is an anti-TNF alpha agent used conventionally in inflammatory bowel disease and rheumatologic disorders. To date only five cases were reported in the literature using adalimumab for severe refractory FMF.Our case report details a young female with severe disabling colchicine-resistant FMF associated with significant articular inflammation. She was treated with adalimumab with remarkable clinical improvement and complete response.

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Increased prevalence of M694V in patients with ankylosing spondylitis: Additional evidence for a link with familial mediterranean fever

Akkoç

Sarı

Akar

et al. 2010

Arthritis & Rheumatism

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Objective. To assess whether there is a statistically significant difference in the frequency of common MEFV allele variants in patients with ankylosing spondylitis (AS) as compared with control patients with rheumatoid arthritis (RA) and with healthy control subjects.Methods. Sixty-two patients with AS, 50 healthy control subjects, and 46 patients with RA were assessed for the presence of MEFV variants. Exon 10 was analyzed by direct sequencing. E148Q was analyzed by restriction endonuclease enzyme digestion (REED) or by direct sequencing when REED analysis failed.Results. The allele frequency of all MEFV variants in the AS group was significantly higher than that in the pooled control group of healthy subjects plus RA patients (15.3% versus 6.8%; P ‫؍‬ 0.021). M694V was the only variant that was significantly more common in the AS group than in the combined or individual control groups (P ‫؍‬ 0.026 for AS patients versus healthy controls, P ‫؍‬ 0.046 for AS patients versus RA patient controls, and P ‫؍‬ 0.008 for AS patients versus healthy and RA patient control groups). The carriage rate of M694V was also significantly higher in the AS patient group than in the combined control group (odds ratio 7.0, P ‫؍‬ 0.014). Neither M694V nor any other MEFV variant showed a correlation with most of the diseaserelated measures examined.Conclusion. We found an increased frequency of MEFV variants in AS patients as compared with healthy controls and with RA patient controls. This was primarily due to the presence of M694V. The roles of other exon 10 variants, as well as the relationship between the variant status and the severity and clinical course of the disease, need to be explored in further studies that include sufficiently large sample sizes.Familial Mediterranean fever (FMF) is an autoinflammatory disease that occurs predominantly in Jewish, Armenian, Turkish, and Middle Eastern Arab populations. It is characterized by recurrent attacks of fever and serositis. The disease is caused by MEFV, which encodes an immunoregulatory protein called pyrin, or marenostrin, and is inherited in an autosomal-recessive manner (1,2).We previously identified 3 patients with ankylosing spondylitis (AS) carrying 2 MEFV variants, 2 of whom were homozygous for M694V (3). None of the patients had any current or previous symptoms suggestive of FMF, and all were HLA-B27 negative. These cases are of particular interest in light of recent reports indicating an increased frequency of sacroiliitis or spondylarthritis in patients with FMF (4,5).

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The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis

Cited by 90 publications

References 13 publications

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

The role of adalimumab in the treatment of colchicine-resistant familial mediterranean fever: a case report

Increased prevalence of M694V in patients with ankylosing spondylitis: Additional evidence for a link with familial mediterranean fever

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