Coexistence of familial Mediterranean fever with sacroiliitis and Behçet's disease: A rare occurrence (original) (raw)
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Familial mediterranean fever and Behçet's disease--are they associated?
The Journal of rheumatology, 2002
To test whether the coexistence of familial Mediterranean fever (FMF) and Behçet's disease (BD) is more frequent than expected and whether each disease affects the severity of the other. We screened 353 charts of patients with FMF to detect individuals with concomitant BD. Of these, 152 patients with FMF over the age of 18 years were also interviewed and examined specifically. We also studied 53 patients with BD, looking for FMF and for their MEFV mutations. We compared BD patients with MEFV mutations to those without them. None of 353 patients with FMF was found to have concomitant BD. Sixteen patients with BD bore MEFV mutations, 2 of whom were symptomatic homozygotes and had concomitant FMF. No patient with BD with a single MEFV mutation had FMF. Both BD groups (with or without MEFV mutations) were similar in their clinical manifestations and disease course. BD and FMF are 2 separate entities that have a mild trend toward a higher than expected association. However, there was...
Similarities and Differences Between Familial Mediterranean Fever and Behçet’s Disease
Central Asian Journal of Medical Hypotheses and Ethics
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease, mainly affecting populations originating from the Eastern Mediterranean region. Behçet’s Disease (BD) is grouped in polygenic autoinflammatory diseases. It is a systemic vasculitis that affects all types and sizes of blood vessels. The aim of this article is to shed light on similarities and differences between FMF and BD. BD is frequently reported along the ancient Silk Road, extending from the Far East to the Mediterranean basin. Several studies have searched for the association between FMF and BD. FMF is caused by mutations of the MEditerranean FeVer (MEFV) gene while an increased frequency of MEFV mutations is reported in BD patients. Although BD and FMF share some epidemiological and pathophysiological features, there are distinct clinical characteristics of these nosological entities. Mucocutaneous manifestations, especially recurrent oral ulcers, are the most common symptom in BD patient...
The Prevalence of Familial Mediterranean Fever and Behçet’s Disease: A Cross-Sectional Study
Archives of Rheumatology, 2020
Objectives This study aims to investigate the coexistence of familial Mediterranean fever (FMF) and Behçet’s disease (BD). Patients and methods This cross-sectional study was conducted between May 2009 and August 2009. The study included 14,881 randomized children (7,741 males, 7,140 females; mean age 13.0 years; range, 12 to 14 years) from sixth to eighth grades, in 72 primary schools in the center of Turkey’s Sivas province. Of these children, 985 were randomly selected and interviewed with their parents. During these interviews, the family trees up to second-degree relatives were drawn. The presence of a diagnosis of FMF or BD was questioned. Patient history, physical examination, eye examination, and pathergy test were performed when needed. The methods of this study were reported in accordance with the STrengthening the Reporting of OBservational studies in Epidemiology guidelines. Results Nine hundred and eighty-five students, 978 mothers, 953 fathers, and 1,876 relatives (4,7...
Mediterranean Fever Gene Mutations in Greek Patients with Behcet’s Disease
West Indian Medical Journal, 2012
Objective: It is known that clinical similarities between Behcet's disease and Familial Mediterranean Fever have led to the hypothesis of a common pathogenesis. Familial Mediterranean Fever is caused by MEFV gene mutations coding for pyrin. Therefore, we examined whether these pyrin mutations are also associated with Behcet's disease. Methods: Molecular testing for pyrin mutations was performed in 96 unrelated Greek patients with an established diagnosis of Behcet's disease. The results were compared with an analysis for pyrin mutations in 140 unrelated healthy Greek controls. Results: We found no pyrin mutations among the Behcet cases tested; this result is comparable with the control group. Conclusions: Pyrin gene mutations in Greek patients with Behcet's disease are not more common than those in the general population. This finding is not in agreement with the findings in other populations. It is suggested that screening for pyrin mutations not be included in the evaluation of Greeks suspected to have Behcet's disease.
The Turkish Journal of Pediatrics, 2020
Background and objectives. Familial Mediterranean fever (FMF) is an autosomal-recessive auto-inflammatory disorder characterized by recurrent episodes of fever with serositis. Sacroiliitis associated with FMF is very rare, especially in children. We aimed to describe the demographic, clinical, laboratory features, and treatment responses of pediatric patients with FMF-related sacroiliitis. Methods. The study consisted of seven pediatric patients younger than 16 years, diagnosed with sacroiliitis associated with FMF between 2010 and 2017. Medical records of patients were retrospectively evaluated. Sacroiliitis was diagnosed based on magnetic resonance imaging. We also reviewed previous studies of FMF related sacroiliitis. Results. Five of the seven patients (male:female ratio of 5:2) had a M694V (homozygous) mutation, one patient had a M694V (heterozygous) mutation, and one patient had a V726A (heterozygous) mutation. All patients were HLA-B27 negative. One of the cases achieved remission with colchicine plus non-steroidal anti-inflammatory drug treatment, and one patient's symptoms were managed by the addition of sulfasalazine. Four patients responded to etanercept treatment, and one patient's symptoms were suppressed with canakinumab. Conclusion. Sacroiliitis can be seen in pediatric FMF patients suffering with inflammatory back pain. This manifestation generally occurs in FMF patients who have M694V mutation. Etanercept could likely show a beneficial effect in patients who are resistant to disease modifying anti-rheumatic drugs and non-steroidal anti-inflammatory drugs. In addition, canakinumab treatment should be considered as a successful alternative therapy in this rare group of patients.
Rheumatoid Arthritis and Familial Mediterranean Fever or Sacroiliitis Accompanied by FMF
Case Reports in Rheumatology, 2013
The coexistence of rheumatoid arthritis (RA) and familial Mediterranean fever (FMF) has been rarely seen in case reports in the literature. Herein, we wanted to present a patient who had been followed up and treated as RA, but on investigation we concluded that he really had FMF and its joint complaints associated with sacroiliitis. Recovery was achieved by etanercept administered as if he was an RA patient.
Sacroiliitis in Children With Familial Mediterranean Fever
JCR: Journal of Clinical Rheumatology, 2018
Background/Objective Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis. Various diseases were reported to be associated with FMF. The aim of this study was to investigate the frequency and characteristics of sacroiliitis in children with FMF. Methods Files of FMF patients who had been seen in 2 reference hospitals in Ankara were retrospectively evaluated. Patients with FMF and concomitant sacroiliitis were included to the study. All patients had magnetic resonance imaging evidence of sacroiliitis. Results Among 650 FMF patients, 17 (11 females, 6 males; mean age, 13.32 ± 4.24 years) (2.6%) of them were found to have sacroiliitis. Familial Mediterranean fever diagnosis was done prior to sacroiliitis diagnosis in 11 patients (65%) and concurrently or afterward in 6 patients (35%). Ten patients had isolated sacroiliitis, and 7 had associated diseases (5 enthesitis-related arthritis, 1 psoriatic...
Journal of Medical Case Reports, 2018
Background: Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene. The MEFV gene mutation responsible for familial Mediterranean fever is probably a susceptibility factor for Behçet's disease, particularly for patients with vascular involvement, and both disorders can occur concurrently in a patient, as in the present case. Case presentation: A 10-year-old girl of Moroccan origin presented to our institution for genetic consultation for genetic testing of the MEFV gene. She had fever associated with abdominal and diffuse joint pain in addition to headache. These symptoms have oriented pediatricians to familial Mediterranean fever. The evolution was marked by Behçet's syndrome symptoms. Sanger sequencing followed by complete exome sequencing analysis of the MEFV gene for the proband mutation revealed a novel variant. We conclude that the novel single variant c.2078 T > A (p.Met693Lys) could be responsible for the association of familial Mediterranean fever and Behçet's disease. Conclusion: To the best of our knowledge, this is the first report of a new variant in exon 10 of the MEFV gene in a Moroccan family. This novel variant should be listed in the MEFV sequence variant databases.
Clinical and experimental rheumatology
Patients with ulcerative colitis (UC) and Crohn's disease (CD) were not represented in the diseased controls group that had been utilised in the development of the International Study Group (ISG) criteria for the diagnosis of Behçet's syndrome (BS). Having similar features, both of these conditions can pose problems in the differential diagnosis of BS. Moreover, there has been a recent awareness of coexistence of BS and familial Mediterranean fever (FMF). The aim of this study was to reassess the performance of ISG criteria among patients with BS and other rheumatological conditions, specifically including those with CD, UC, and FMF. 302 consecutive patients with BS and 438 patients with other rheumatological conditions were surveyed for the presence or absence of the features of BS by means of a standard form which had been prepared according to ISG criteria. All control patients with a history of oral ulcer had a pathergy test and an eye examination by an experienced ophth...