High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection

Akar, Servet; Soysal, Özgül; Balcı, Ali; Solmaz, Dilek; Gerdan, Vedat; Önen, Fatoş; Tunca, Mehmet; Akkoç, Nurullah

doi:10.1186/ar4154

Cited by 66 publications

(42 citation statements)

References 32 publications

(43 reference statements)

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“…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: 75%

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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: Discussionmentioning

confidence: 75%

“…Arthritis can be the initiating and sole manifestation of FMF (27). FMF patients with musculoskeletal manifestations may also satisfy the criteria of AS and chronic arthritis in FMF (21,22). Both in spondylarthropathies and in FMF, the symptoms of the patients fluctuate.…”

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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“…We and others have observed strong associations between FMF and spondyloarthritis (SpA), including high rates of sacroiliitis and tenosynovitis as well as a resemblance between the oligoarticular patterns of joint involvement in both disease entities (). In addition, in a group of 11 patients with severe leg pain upon exertion, we recently noted that enthesopathy was the underlying mechanism in all but 1 patient ().…”

mentioning

confidence: 88%

Exertional Leg Pain in Familial Mediterranean Fever: A Manifestation of an Underlying Enthesopathy and a Marker of More Severe Disease

Eshed

Rosman

Livneh

et al. 2014

Arthritis & Rheumatology

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Objective. Exertional leg pain is a characteristic musculoskeletal manifestation of familial Mediterranean fever (FMF). We aimed to define the frequency and characteristics of exertional leg pain in a large cohort of FMF patients and to evaluate for additional signs and symptoms of spondyloarthritis (SpA) in this patient population.Methods. FMF patients were allocated into study or control groups based on the presence or absence of exertional leg pain. Randomly selected patients underwent magnetic resonance imaging (MRI) of the ankle as well as plain radiography of the sacroiliac joints.Results. The prevalence of exertional leg pain among the 170 FMF patients included in the study was 58.2%. Patients with exertional leg pain had significantly more joint attacks (74.7% versus 40.8%; P < 0.0001), fever attacks (35.4% versus 15.5%; P ‫؍‬ 0.004), and pleuritis attacks (48.5% versus 29.6%; P ‫؍‬ 0.013) as well as more attacks per year. Elevations of inflammation markers were significantly more frequent among the study group (for the erythrocyte sedimentation rate, 44.4% of patients versus 21.1% of patients; P ‫؍‬ 0.016) (for the C-reactive protein level, 48.4% of patients versus 31.8% of patients; P ‫؍‬ 0.013), and M694V homozygosity was more prevalent among the study group (45.5% versus 21.1%; P ‫؍‬ 0.001). Signs compatible with enthesopathy on MRI were observed in 73.5% of patients in the study group and in 33.3% of patients in the control group (P ‫؍‬ 0.046). Definite SpA was diagnosed in 41.2% of the patients in the study group compared to none of the controls (P ‫؍‬ 0.07) (odds ratio 1.7 [95% confidence interval 1. 2-2.3]).Conclusion. Exertional leg pain is a common manifestation of FMF and is a marker of a more severe disease phenotype. Additionally, exertional leg pain is frequently associated with sacroiliitis and an underlying ankle enthesopathy and should therefore be considered a new feature of SpA.

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“…We have previously that 7.3 of 256 patients with FMF had sacroiliitis, which was related to the presence of M694V mutations (10). Akar et al (11) showed that patients with FMF having sacroiliitis more commonly had M694V mutation compared than those without sacroiliitis.…”

Section: Discussionmentioning

confidence: 99%

The role of MEFV mutations in the concurrent disorders observed in patients with familial Mediterranean fever

Güncan¹,

Bilge²,

Kaşifoğlu³

et al. 2016

Eur J Rheumatol

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Objective: This study aimed to investigate the frequency in which familial Mediterranean fever (FMF) coexists with other diseases and determine whether Mediterranean fever (MEFV) gene mutations are involved in such coexistence. Material and Methods:In total, 142 consecutive patients with FMF investigated for MEFV mutation were enrolled in this study [Female: 87; Male: 55,]. All the patients were questioned for the presence of concurrent disorders, and the medical records of these patients were revised retrospectively. A previous diagnosis of inflammatory disorder other than FMF was considered true if it met the relevant criteria. MEFV mutations were divided into 2 groups, namely M694V and its subgroup (homozygous or heterozygous) (Group I) and others (Group II). Compound heterozygosity for M694V mutation was included in Group II to form a homogeneous group for Group I. Group I and Group II were compared according to phenotypical features. The presence of MEFV mutation was investigated in exons 2, 3, 5, and 10 by the multiplex-PCR reverse hybridization method.Results: Concomitant disorders were found in 17 of 73 patients with FMF (23%) in Group I and 5 of 56 patients (8.9%) in Group II (p=0.04). Concomitant disorders in Group I were as follows: 7 cases of amyloidosis, 2 cases of Behcet's disease (BD), 4 cases of ankylosing spondylitis (AS), 1 case of antiphospholipid syndrome, 1 case of Henoch-Schonlein purpura (HSP), 1 case of combination of psoriatic arthritis, HSP, and membranoproliferative glomerulonephritis, and 1 case of AS and amyloidosis. In Group II, the following disorders were found: 1 case of amyloidosis, 1 case of BD, 1 case of AS, 1 case of ulcerative colitis, and 1 case of vitiligo. Conclusion:The presence of M694V mutation may predispose patients with FMF to developing other inflammatory disorders.

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High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection

Cited by 66 publications

References 32 publications

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Exertional Leg Pain in Familial Mediterranean Fever: A Manifestation of an Underlying Enthesopathy and a Marker of More Severe Disease

The role of MEFV mutations in the concurrent disorders observed in patients with familial Mediterranean fever

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