scholarly journals Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

2021 ◽  
Author(s):  
Pinar Ozge Avar-Aydin ◽  
Nilgun Cakar ◽  
Zeynep Birsin Ozcakar ◽  
Nilufer Yalcindag ◽  
Fatos Yalcinkaya
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Diseases ◽  
Mediterranean Fever ◽  
True Association

scholarly journals Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

2021 ◽  
Author(s):  
Pinar Ozge Avar-Aydin ◽  
Nilgun CAKAR ◽  
Zeynep Birsin OZCAKAR ◽  
Nilufer YALCINDAG ◽  
Fatos YALCINKAYA
Keyword(s):  
Familial Mediterranean Fever ◽  
Medical Records ◽  
Inflammatory Diseases ◽  
Pediatric Population ◽  
Predisposing Factor ◽  
M694v Mutation ◽  
Mediterranean Fever ◽  
Inflammatory Syndrome ◽  
Chronic Course ◽  
True Association

Abstract Purpose: To describe the characteristics of patients with familial Mediterranean fever (FMF) concurrent with ocular inflammatory disease (OID) and to criticize possible relations between them.Methods: Clinical data were extracted from electronic medical records. Additionally, the medical literature on OIDs in FMF was reviewed.Results: Among 512 pediatric patients with FMF, five patients were found to have OIDs: bilateral chronic uveitis, recurrent orbital myositis (ROM), recurrent optic neuritis, and acquired Brown’s syndrome. The first cases of ROM and acquired Brown’s syndrome in FMF have been introduced in the literature. All patients presented with early-onset typical FMF attacks carried at least one M694V mutation and experienced OID while on colchicine. Conclusion: Increased frequency of OIDs in FMF as per the pediatric population and relapsing and chronic course of OIDs occasionally with concurrent FMF attacks suggest that this inflammatory syndrome especially those carrying M694V mutations may be a predisposing factor for OIDs.

scholarly journals Il-1antagonist Treatment in Recurrent Aseptic Meningitis Related to Familial Mediterranean Fever

2020 ◽  
Author(s):  
Ruth Livny ◽  
Yuval Bitterman ◽  
Riva Brik ◽  
Yonatan Butbul Aviel
Keyword(s):  
Nervous System ◽  
Familial Mediterranean Fever ◽  
Aseptic Meningitis ◽  
Inflammatory Diseases ◽  
Case Reports ◽  
Interleukin 1 ◽  
Colchicine Treatment ◽  
Cns Involvement ◽  
Mediterranean Fever ◽  
Recurrent Aseptic Meningitis

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive, auto-inflammatory disease, presenting with recurrent bouts of fever and polyserositis. FMF has been associated with central nervous system (CNS) manifestations such as Headache and Myalgia. The occurrence of other forms of nervous system involvement is rare, including seizures, sinus vein thrombosis, pseudotumor cerebri and more. There are only few case reports of aseptic meningitis due to FMF. Case presentation We present the case of a 14 year-old girl diagnosed with FMF, who experienced recurrent episodes of severe headache and aseptic meningitis while on maximal dose of colchicine therapy. She had a dramatic response to anakinra with symptoms resolving completely within a few days without recurrence. Subsequently, we identified seven cases in the literature describing recurrent aseptic meningitis in patients with underlying FMF; all showed response to colchicine treatment, without treatment failure. Conclusion Our case suggests a role for Interleukin 1 (IL-1) antagonists for cases of CNS involvement secondary to FMF in patients who fail to respond to colchicine, and might imply that anakinra could be effective in other auto-inflammatory diseases with CNS involvement.

scholarly journals Familial Mediterranean fever (periodic disease): history or a real problem

2018 ◽  
Vol 12 (3) ◽  
pp. 61-69 ◽  
Author(s):  
E. S. Fedorov ◽  
S. O. Salugina
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Diseases ◽  
Systemic Vasculitis ◽  
Interleukin 1 ◽  
Mefv Gene ◽  
Real Problem ◽  
Randomized Controlled Studies ◽  
Bowel Diseases ◽  
Mediterranean Fever ◽  
Definition Of

The review is devoted to the most common monogenic autoinflammatory disease – familial Mediterranean fever (FML) caused by MEFV gene mutation that occurs mainly in the representatives of certain ethnic groups and manifests itself as recurrent 6–72-hour attacks of pyretic fever accompanied by the phenomena of aseptic peritonitis, pleurisy, arthritis, and inflammatory rash. The disease can lead to a life-threatening complication, such as amyloidosis. FML is noted to be comorbid with a number of other inflammatory diseases: systemic vasculitis, chronic joint inflammatory diseases, and inflammatory bowel diseases. Emphasis is laid on the therapy aspects set out in the 2016 EULAR guidelines. The mainstay of treatment for FML is colchicine that prevents recurrences of the disease, minimizes the risk of amyloidosis, and should be prescribed immediately, once diagnosed. The paper deals with the definition of colchicine resistance that is observed in 5–10% of patients. Biological agents, among which interleukin-1 are most preferred, are now used to treat this category of patients. The high efficacy of these agents in patients with FML has been confirmed in randomized controlled studies.

scholarly journals Severity and frequency of restless legs syndrome in patients with familial Mediterranean fever

2017 ◽  
Vol 45 (4) ◽  
pp. 1340-1346
Author(s):  
Samet Yılmaz ◽  
Burhanettin Çiğdem ◽  
Şeyda Figül Gökçe ◽  
Sevil Ceyhan-Doğan ◽  
Hatice Balaban
Keyword(s):  
Familial Mediterranean Fever ◽  
Restless Legs Syndrome ◽  
Rating Scale ◽  
Inflammatory Diseases ◽  
Normal Population ◽  
Motor Disorder ◽  
Restless Legs ◽  
Mediterranean Fever ◽  
The Mean

Objective: Restless legs syndrome (RLS) is a common sensory motor disorder. RLS an urge to move the extremities that may be accompanied by dysesthesias, and significantly affects quality of life of affected patients. The frequency of RLS is higher in different systemic inflammatory diseases. Familial Mediterranean fever (FMF) is an inherited inflammatory disease characterized by attacks of polyserositis, arthritis, and fever. The prevalence of RLS in patients with FMF is unknown. This study aimed to evaluate the prevalence rate of RLS in a sample of patients with FMF and compare this prevalence with that of a matched normal population. Method: A total of 60 patients with FMF and 60 healthy controls were studied. All participants underwent a neurological examination. Diagnostic criteria as proposed by the International Restless Legs Syndrome Study Group (IRLSSG) were used to define RLS. The IRLSSG rating scale for the severity of RLS was applied to determine the severity of symptoms. Results: The prevalence of RLS was not significantly different between patients and controls. Although the mean International Restless Legs Syndrome Rating Scale (IRLSRS) scores tended to be higher in patients compared with controls, this difference was not significant. When each item of the severity scale was compared between the two groups, significantly higher scores were found in some items of the IRLSRS in patients with FMF compared with controls. Conclusion: According to this result, RLS symptoms in patients with FMF were more frequent and lasted longer than those in controls.

scholarly journals Wheat Consumption Leads to Immune Activation and Symptom Worsening in Patients with Familial Mediterranean Fever: A Pilot Randomized Trial

Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 1127 ◽  
Author(s):  
Antonio Carroccio ◽  
Pasquale Mansueto ◽  
Maurizio Soresi ◽  
Francesca Fayer ◽  
Diana Di Liberto ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Symptoms ◽  
Inflammatory Diseases ◽  
Activity Index ◽  
Clinical Manifestations ◽  
University Hospital ◽  
Double Blind ◽  
Amyloid A ◽  
Tnf Α ◽  
Mediterranean Fever

We have identified a clinical association between self-reported non-celiac wheat sensitivity (NCWS) and Familial Mediterranean Fever (FMF). Objectives: A) To determine whether a 2-week double-blind placebo-controlled (DBPC) cross-over wheat vs. rice challenge exacerbates the clinical manifestations of FMF; B) to evaluate innate immune responses in NCWS/FMF patients challenged with wheat vs. rice. The study was conducted at the Department of Internal Medicine of the University Hospital of Palermo and the Hospital of Sciacca, Italy. Six female volunteers with FMF/NCWS (mean age 36 ± 6 years) were enrolled, 12 age-matched non-FMF, NCWS females, and 8 sex- and age-matched healthy subjects served as controls. We evaluated: 1. clinical symptoms by the FMF-specific AIDAI (Auto-Inflammatory Diseases Activity Index) score; 2. serum soluble CD14 (sCD14), C-reactive protein (CRP), and serum amyloid A (SSA); 3. circulating CD14+ monocytes expressing interleukin (IL)-1β and tumor necrosis factor (TNF)-α. The AIDAI score significantly increased in FMF patients during DBPC with wheat, but not with rice (19 ± 6.3 vs. 7 ± 1.6; p = 0.028). sCD14 values did not differ in FMF patients before and after the challenge, but were higher in FMF patients than in healthy controls (median values 11357 vs. 8710 pg/ml; p = 0.002). The percentage of circulating CD14+/IL-1β+ and of CD14+/TNF-α+ monocytes increased significantly after DBPC with wheat vs. baseline or rice challenge. Self-reported NCWS can hide an FMF diagnosis. Wheat ingestion exacerbated clinical and immunological features of FMF. Future studies performed on consecutive FMF patients recruited in centers for auto-inflammatory diseases will determine the real frequency and relevance of this association.

scholarly journals Endocan: A Novel Marker for Colchicine Resistance in Familial Mediterranean Fever Patients?

2021 ◽  
Vol 9 ◽  
Author(s):  
Ahmet Omma ◽  
Berkan Armaǧan ◽  
Serdar Can Güven ◽  
Sevinç Can Sandıkçı ◽  
Seda Çolak ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Acute Phase ◽  
Inflammatory Diseases ◽  
Cross Sectional Study ◽  
Control Group ◽  
Healthy Individuals ◽  
Acute Phase Reactants ◽  
Cross Sectional ◽  
Colchicine Resistance ◽  
Mediterranean Fever

Introduction: Familial Mediterranean fever (FMF) patients had 5–10% colchicine resistance. Although FMF attacks are characterized by acute phase elevation, there are no biomarkers that can show colchicine resistance yet. The serum endocan levels may elevate in inflammatory and auto-inflammatory diseases.Objectives: This study aimed to evaluate serum endocan levels in FMF patients according to whether attack and colchicine resistance or not and also compare them with classical acute phase reactants.Methods: In this single-center and cross-sectional study, a total of 111 FMF patients and 60 healthy individuals were enrolled. All patients' basic demographic and clinical data were recorded and blood samples were collected.Results: A total of 46 (41.4%) FMF patients had colchicine resistance. In comparison to the FMF patients according to colchicine response, colchicine resistance patients had a significantly higher median (IQR) endocan levels than colchicine responsive patients [36.98 ng/ml (97.41) vs. 13.57 ng/ml (27.87), p = 0.007], but there were no differences between in terms of median ESR and CRP levels. Inversely, serum endocan levels were similar during an attack and attack-free period in FMF patients, although ESR and CRP levels were significantly different. Interestingly, the highest serum endocan levels were in the control group.Conclusion: In conclusion, serum endocan levels were higher in colchicine resistance than colchicine responsive patients, but attack state had no effect on serum endocan levels in our study. Unlike ESR and CRP, serum endocan may be a novel biomarker for detection of colchicine resistance and distinguish the FMF attacks.

scholarly journals Abdominal syndrome in so-called «Outinflammatory diseases»; Two cases of family Mediterranean fever

2020 ◽  
pp. 121-125
Author(s):  
A. Yu. Spivakovskay ◽  
Yu. M. Spivakovskiy ◽  
Yu. V. Chernenkov
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Symptoms ◽  
Inflammatory Diseases ◽  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Clinical Observations ◽  
Auto Inflammatory Disease ◽  
Mediterranean Fever ◽  
The Moment ◽  
Clinical Cases

The aim — on the example of the analysis of clinical observations, the authors draw attention to various variants of the course of the classic auto — inflammatory disease-familial Mediterranean fever (SSL) with severe abdominal syndrome.Materials and methods: the article present clinical material on two observations of patients with SSL in clinical symptoms, which were dominated by abdominal syndrome, from the moment of their request for medical care to the verification of the diagnosis.Results: The article presents brief information about the diseases of the group of auto-inflammatory (periodic fever syndrome with mevalonatkinase deficiency, TRAPS-syndrome, Crohn’s disease, familial Mediterranean fever), in the manifestation of which gastroenterological symptoms play a significant role. An example of «early» and «late» diagnosis of auto-inflammatory diseases is illustrated by the results of the analysis of two clinical cases of patients with SSL.The analysis of the analyzed clinical cases confirms the multidisciplinary nature of the problem of auto-inflammatory diseases and the importance of readiness not only of rheumatologists, but also of other specialists to make such a diagnosis.

scholarly journals GSDMD is critical for autoinflammatory pathology in a mouse model of Familial Mediterranean Fever

2018 ◽  
Vol 215 (6) ◽  
pp. 1519-1529 ◽  
Author(s):  
Apurva Kanneganti ◽  
R.K. Subbarao Malireddi ◽  
Pedro H.V. Saavedra ◽  
Lieselotte Vande Walle ◽  
Hanne Van Gorp ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Autoinflammatory Disease ◽  
Inflammatory Diseases ◽  
Disease Model ◽  
Physiological Role ◽  
Missense Mutations ◽  
Inflammatory Cytokine Production ◽  
Mediterranean Fever

Pyroptosis is an inflammasome-induced lytic cell death mode, the physiological role of which in chronic inflammatory diseases is unknown. Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide, affecting an estimated 150,000 patients. The disease is caused by missense mutations in Mefv that activate the Pyrin inflammasome, but the pathophysiologic mechanisms driving autoinflammation in FMF are incompletely understood. Here, we show that Clostridium difficile infection of FMF knock-in macrophages that express a chimeric FMF-associated MefvV726A Pyrin elicited pyroptosis and gasdermin D (GSDMD)–mediated interleukin (IL)-1β secretion. Importantly, in vivo GSDMD deletion abolished spontaneous autoinflammatory disease. GSDMD-deficient FMF knock-in mice were fully protected from the runted growth, anemia, systemic inflammatory cytokine production, neutrophilia, and tissue damage that characterize this autoinflammatory disease model. Overall, this work identifies pyroptosis as a critical mechanism of IL-1β–dependent autoinflammation in FMF and highlights GSDMD inhibition as a potential antiinflammatory strategy in inflammasome-driven diseases.

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