Coexistence of familial Mediterranean fever with sacroiliitis and Behçet's disease: A rare occurrence

Bırlık, Merih; Tunca, Mehmet; Hizli, Nail; Soytürk, Müjde; Yeniçerioğlu, Yavuz; Özcan, Mehmet Ali; El, Özlem

doi:10.1007/bf01450901

Cited by 28 publications

(29 citation statements)

References 11 publications

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“…In spite of the distinct clinical features of BD and FMF, they share many common features, such as abnormal neutrophil activation and the effectiveness of colchicine. The MEFV gene mutation that is responsible for FMF has been reported to probably be a susceptibility factor for BD, and both disorders can occur concurrently in a single patient (10,18,24,25). The present patient did not have symptoms of BD other than recurrent fever and the ileal ulcers.…”

Section: Discussionmentioning

confidence: 47%

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

et al. 2012

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We herein describe the case of a 25-year-old woman who suffered from atypical familial Mediterranean fever for more than a decade. She presented with a periodic fever, abdominal pain and persistent ulcers in the terminal ileum. Colchicine was effective, and familial Mediterranean fever was diagnosed. A genetic study showed a heterozygous E148Q mutation in the MEFV gene. Multiple, recurrent, abscess-like lesions developed asynchronously in the spleen, liver, and a lung. Infliximab was administered when colchicine treatment became ineffective. However, infliximab treatment soon became ineffective, probably because antibodies were generated against it. Therefore, etanercept treatment was started, and the patient showed an immediate response.

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Section: Discussionmentioning

confidence: 47%

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

et al. 2012

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“…Given that, most of the FMF-associated vasculitis cases had MEFV gene mutations, contributing role of these mutations for vasculitis development may be considered in the pathogenesis. In line with this view, our literature search showed that most of the FMF patients reported in literature with coexistent HSV or PAN had [7,9,10,13,14,65,66] Medium vessel vasculitic diseases Polyarteritis nodosa [7, 8, 11-13, 15, 70, 71] Large vessel vasculitic diseases Unreported Unclassified vasculitic conditions Protracted febrile myalgia [16,60,[72][73][74] Behçet's disease [17,18,79] Cutaneous vasculitis [87,88] either homozygous or compound heterozygous M694V mutations. However, since many FMF patients carrying these mutations do not have associated vasculitis, we admit that this coexistence cannot solely be explained by the presence of MEFV gene mutations.…”

Section: Pioneering Reports About Fmf-vasculitis Associationmentioning

confidence: 57%

“…Then, the first case report of (BD) association with FMF appeared in literature in 1998 by Birlik et al [18]. However, the association of FMF and BD could not be shown in some other studies.…”

Section: Pioneering Reports About Fmf-vasculitis Associationmentioning

confidence: 95%

Coexistence of vasculitides with Familial Mediterranean Fever

Aksu

Keser

2011

Rheumatol Int

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Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by recurrent self-limited attacks of fever accompanied with peritonitis, pleuritis, or arthritis. FMF may coexist with various systemic inflammatory diseases including vasculitides, spondyloarthritis, multiple sclerosis, and inflammatory bowel disease. Among these coexistences, this review concentrates on vasculitic disorders, with the aim of increasing the awareness of FMF-vasculitis association. This association does not merely show a coincidentally increased frequency of vasculitic disorders in FMF; rather, it seems that FMF patients might be at increased risk of developing vasculitis. Indeed, as also suggested by some authors, vasculitis might be an essential feature of FMF. Among the vasculitic disorders reported to be associated with FMF, Henoch-Schönlein purpura, and classical polyarteritis nodosa come the first, possibly followed up by protracted febrile myalgia. There is also an ongoing debate whether Behçet's disease (BD) more frequently seen in FMF than expected by chance alone. In this review, the associations of various vasculitic disorders with FMF and the possible pathogenic mechanisms underlying these associations, as well as the frequencies and clinical significances of FMF-related MEFV mutations in various vasculitides including BD, are discussed in the context of the available data.

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“…Another hypothesis is that the P706 polymorphism impairs the gene regulation through a change in the tridimensional conformation of the DNA molecule. One percent of FMF patients also suffer from inflammatory bowel disease, PAN or BD (Birlik et al, 1998;Cattan et al, 2000;Ozdogan et al, 1997;Ozen et al, 1999;Schwartz et al, 1997;Schwartz et al, 2000). Patients who had the clinical and genetic diagnosis of FMF can also develop vasculitis (Tekin et al, 1999;Tekin et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

MEFV mutations in Beh�et's disease

Touitou

Magne

Molinari³

et al. 2000

Hum. Mutat.

150

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Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. BD in contrast is a polyfactorial disease associated with the major histocompatibility complex. Because FMF and BD have epidemiological similarities, we asked whether the FMF gene was implicated in BD. We screened for the common MEFV mutations a cohort of 114 chromosomes from definite BD patients [meeting the criteria of the International study group] and probable cases [meeting at least two of these criteria]. We screened in parallel an ethnically matched cohort of FMF and control chromosomes. The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). The P706 polymorphism was found in 10.5% of the probable BD chromosomes, but in only 1.6% of the controls (p=0.01). Because some MEFV mutations were more frequent in BD than in controls, we suggest that they may act as additional susceptibility factors in BD. Hum Mutat 16:271–272, 2000. © 2000 Wiley‐Liss, Inc.

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Coexistence of familial Mediterranean fever with sacroiliitis and Behçet's disease: A rare occurrence

Cited by 28 publications

References 11 publications

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

Coexistence of vasculitides with Familial Mediterranean Fever

MEFV mutations in Beh�et's disease

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