Anakinra treatment in patients with familial Mediterranean fever: a single-centre experience

Rheumatology ◽  
2020 ◽  
Author(s):  
Serdal Ugurlu ◽  
Bilgesu Ergezen ◽  
Bugra Han Egeli ◽  
Oguzhan Selvi ◽  
Huri Ozdogan
Keyword(s):  
Side Effects ◽  
Inadequate Response ◽  
Single Centre ◽  
Attack Frequency ◽  
Acute Phase Reactants ◽  
Treatment Termination ◽  
M694v Mutation ◽  
Insufficient Response ◽  
Mediterranean Fever ◽  
Anakinra Treatment

Abstract Objectives Anakinra is proven to be effective in controlled trials in terms of attack frequency and subclinical inflammation in colchicine-resistant patients. The objective of this study was to review the patients followed in our single centre with FMF who received anakinra because of insufficient colchicine response. Methods The study was conducted at a tertiary rheumatology centre experienced in autoinflammatory diseases. The patients were treated for at least 1 month with anakinra. Patients with amyloidosis and pregnancy were not included. Attack frequency, patient global assessment scales of disease severity and acute phase reactants were recorded before and throughout anakinra treatment. Criteria of treatment termination were side effects, disease remission, inadequate response, pregnancy plan and non-compliance. Results One hundred and six patients diagnosed with FMF were treated with anakinra; 45.92% of the patients had a homozygous M694V mutation; 83 of the 98 patients tested for MEFV carried at least one copy of M694V. Attack frequency decreased while on anakinra treatment; in fact, no attacks were observed in 75 patients. Visual analogue scale score decreased from 7.49 (2.03) to 3.08 (2.82) (P = 0.001). Currently, 71 patients are still on anakinra treatment. Treatment of 34 patients was discontinued (32%). Insufficient response and side effects were the most common reasons for treatment discontinuation. All of the side effects observed were reversible and the patients alleviated after treatment cessation. In four patients, leukopenia was observed. Conclusion In patients who were refractory to colchicine, anti-IL-1 agent anakinra was shown to be effective and safe. The effectiveness of anakinra stems from preventing attacks and increasing the quality of life.

scholarly journals AB0978 EFFICACY OF ANAKINRA TREATMENT IN PEDIATRIC RHEUMATIC DISEASES; A SINGLE-CENTER EXPERIENCE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1783.1-1784
Author(s):  
F. Demir ◽  
E. Gürler ◽  
B. Çolak ◽  
B. Sözeri
Keyword(s):  
Familial Mediterranean Fever ◽  
Injection Site ◽  
Rheumatic Diseases ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Inactive Disease ◽  
Daily Injection ◽  
Recurrent Pericarditis ◽  
Injection Site Reactions ◽  
Mediterranean Fever ◽  
Anakinra Treatment

Background:Anakinra, a recombinant IL-1 receptorantagonist, is a treatment option that acts byblocking the biological activity of IL-1 in autoinflammatory conditions. The diseases that the IL-1 was over expressed are the potential conditions for this treatment. Such as familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), and hyperimmunglobulin D syndrome (HIDS) with monogenic inheritance, and systemic juvenile idiopathic arthritis (SoJIA) or idiopathic recurrent pericarditis as non-Mendelian polygenic diseases, can be listed as examples of these diseases.Objectives:The aim of this study was to review the efficacy of anakinra treatment in children with rheumatic disease followed in our center.Methods:The study group consisted of children with pediatric rheumatic diseases followed up in the Pediatric Rheumatology Department of University of Health Sciences and treated with anakinra (anti-IL 1) for at least one month, between 1 July 2016 and 1 January 2020. The data of these patients were collected retrospectively. The disease activity of the patients at 3rd month and 12th month after the treatment were assessed. We aim to report our experiences of pediatric rheumatic diseases treated with anakinra.Results:There were 28 patients treated with anakinra for the different pediatric rheumatic diseases. The diagnoses of these patients were as follows; eight were macrophage activation syndrome (MAS) complicating SoJIA, six were HIDS, four were CAPS, four were FMF, four were idiopathic recurrent pericarditis, one was deficiency of interleukin-36 receptor antagonist (DITRA), and one was undefined systemic autoinflammatory disease. 46.4% of the patients were male and 53.6% were female. The median age of diagnosis of the patients was 6.5 ((interquartile range (IQR): 4-12.7) years. The median follow-up duration of the patients was 14 (IQR: 3.7-28) months. The patients median anakinra treatment duration was 3 (IQR: 1-4) months. Fever reduced and C-reactive protein normalized within median 2 (IQR: 1-3) and 5 (IQR: 5-7) days, respectively. In the 3rd month after treatment; It was observed that 53.6% of patients achieved a complete remission (no attack was seen or MAS was improved). The frequency of attacks were decreased more than 50% in 35.7% of patients and less than 50% in 7.1%. 3.6% of patients were unresponsive to treatment. In the 12th month assessment after the initiation of treatment, it was observed that 28.6% of patients were still under anakinra treatment and in remission, 10.7% of them were in remission without anakinra treatment. In 60.7% of patients, anakinra was switch to other biological treatments for different reasons (35.7% partial response or unresponsiveness, 17.8% injection site reactions and 7.1% daily-injection difficulty). Biologic drug switch to canakinumab and tocilizumab was observed in 88.2% and 11.8% of patients, respectively. One patient developed recurrent MAS episodes when the anakinra dose was tapered, and one another patient was unresponsive to the anakinra and dead due to secondary to MAS.Conclusion:Anakinra seems to be a successful treatment to achieve inactive disease in a significant portion of patients in the early period. The recurrence of disease attacks while drug tapering and injection site reactions were appears the main causes of treatment switch or discontinuation.References:[1]Ben-Zvi I, Kukuy O, Giat E, Pras E, Feld O, Kivity Set al. Anakinra for Colchicine-Resistant Familial Mediterranean Fever: A Randomized, Double-Blind, Placebo-Controlled Trial. Arthritis Rheumatol. 2017;69:854-862.Acknowledgments:We thank our patients and their familiesDisclosure of Interests:None declared

scholarly journals Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population

2012 ◽  
Vol 33 (3) ◽  
pp. 113-118 ◽  
Author(s):  
Serbulent Yigit ◽  
Ahmet Inanir ◽  
Nevin Karakus ◽  
Esra Kesici ◽  
Nihan Bozkurt
Keyword(s):  
Ankylosing Spondylitis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Turkish Population ◽  
M694v Mutation ◽  
Significant Difference ◽  
Mediterranean Fever ◽  
Genomic Dnas ◽  
Polymerase Chain ◽  
Turkish Patients

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance ofMEFVgene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. There was a statistically significant difference of theMEFVgene mutation carrier rates between AS patients and healthy controls (p= 0.004, OR: 2.5, 95% CI: 1.32–4.76). This association was also observed in allele frequencies (p= 0.005, OR: 2.3, 95% CI: 1.27–4.2). A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% ,p= 0.060). There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest thatMEFVgene mutations are positively associated with a predisposition to develop AS.

Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures

Blood ◽  
2000 ◽  
Vol 96 (2) ◽  
pp. 727-731 ◽  
Author(s):  
Yaacov Matzner ◽  
Suzan Abedat ◽  
Eli Shapiro ◽  
Shlomit Eisenberg ◽  
Ariela Bar-Gil-Shitrit ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Human Fibroblasts ◽  
Skin Fibroblasts ◽  
Sterile Inflammation ◽  
Inhibitor Activity ◽  
Primary Fibroblast ◽  
Fibroblast Cultures ◽  
M694v Mutation ◽  
Human Primary Fibroblast ◽  
Mediterranean Fever

Abstract Familial Mediterranean fever (FMF) is an inherited disease whose manifestations are acute but reversible attacks of sterile inflammation affecting synovial and serosal spaces. The FMF gene (MEFV) was recently cloned, and it codes for a protein (pyrin/marenostrin) homologous to known nuclear factors. We previously reported the deficient activity of a C5a/interleukin (IL)–8 inhibitor, a physiologic regulator of inflammatory processes, in FMF serosal and synovial fluids. We now describe the concomitant expression ofMEFV and C5a/IL-8–inhibitor activity in primary cultures of human fibroblasts. Fibroblasts grown from synovial and peritoneal tissues displayed C5a/IL-8–inhibitor activity that could be further induced with phorbol myristate acetate (PMA) and IL-1β. Very low levels of chemotactic inhibitor were evident in skin fibroblast cultures or in peritoneal and skin fibroblasts obtained from FMF patients. MEFV was expressed in peritoneal and skin fibroblasts at a lower level than in neutrophils and could be further induced by PMA and IL-1β. In the FMF cultures, the MEFV transcript carried the M694V mutation, consistent with the genetic defect found in patients with this disease. MEFV was also expressed in other cell lines that do not produce C5a/IL-8 inhibitor. These findings suggest that human primary fibroblast cultures express MEFV and produce C5a/IL-8–inhibitor activity. The interrelationship between pyrin, the MEFV product, and the C5a/IL-8 inhibitor requires further investigation.

Do we need 30 min cortisol measurement in the short synacthen test: a retrospective study

2019 ◽  
Vol 96 (1138) ◽  
pp. 467-472
Author(s):  
Rajeev Kumar ◽  
Peter Carr ◽  
Kimberley Moore ◽  
Zeeshan Rajput ◽  
Louise Ward ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Adrenal Insufficiency ◽  
Late Response ◽  
Inadequate Response ◽  
Insufficient Response ◽  
Group A ◽  
Synacthen Test ◽  
Cortisol Levels ◽  
Group B ◽  
Short Synacthen Test

ObjectiveThe short synacthen test (SST) is widely used across the UK to assess adrenal reserve but there remains no consensus on the timing of cortisol sampling to help diagnose adrenal insufficiency. The main objective of our study was to see if both 30 and 60 min sample are required following administration of synacthen to investigate suspected adrenal insufficiency (AI).DesignThis was a single-centre retrospective study of 393 SSTs measuring 0, 30 and 60 min cortisol levels after administration of 250 µg of synacthen.Patients and methodsAll the SSTs for patients suspected of primary or secondary AI between April 2016 and October 2018 were included in this study. The tests were performed as per our hospital protocol. A post-adrenocorticotropic hormone (ACTH) cortisol response of 420 nmol/L at any time point was considered adequate to rule out AI. The data were analysed to ascertain the proportion of patients who achieved this level at 30 and/or 60 min.ResultsA total of 393 SST results were included in this study. Patients were divided into two groups depending on whether (group A) or not (group B) they were on steroids. Overall, a total of 313 (79.6%) subjects achieved cortisol level of ≥420 nmol/L at 30 and 60 min while 19 (4.8%) had late response (ie, insufficient 30 min cortisol levels, rising to ≥420 nmol/L at 60 min). Another 61 subjects (15.5%) showed insufficient response at both 30 and 60 min (ie, failed to achieved level of ≥420 nmol/L). Importantly, there was no patient in either group who had adequate response at 30 min and then failed at 60 min. Patients in group A were more likely to have inadequate response at both 30 and 60 min while patients in group B were more likely to have normal response at both time points.ConclusionsOur results suggest that about 5% of people undergoing SST may be inappropriately diagnosed as having AI (and subjected to long-term unnecessary steroid treatment) if the 60 min sample is not maintained. We suggest that 30 min sample does not add any additional diagnostic utility and can be omitted thus simplifying SST even further and saving on cost and resources. We propose that single measurement after 60 min of administration of synthetic ACTH is a sufficient screening test for AI.

scholarly journals Management and Outcome of Taxane-Induced Nail Side Effects: Experience of 79 Patients from a Single Centre

2019 ◽  
Vol 5 (5) ◽  
pp. 276-282 ◽  
Author(s):  
Aurora Alessandrini ◽  
Michela Starace ◽  
Giulia Cerè ◽  
Nicolò Brandi ◽  
Bianca Maria Piraccini
Keyword(s):  
Side Effects ◽  
Single Centre

Cardiovascular and metabolic side effects associated with hydrocortisone and dexamethasone use in VLBW infants: a single-centre experience

2013 ◽  
Vol 102 (10) ◽  
pp. e436-e436 ◽  
Author(s):  
Sebastian Benedikt Röhr ◽  
Harald Sauer ◽  
Ludwig Gortner ◽  
Stefan Gräber ◽  
Sascha Meyer
Keyword(s):  
Side Effects ◽  
Single Centre ◽  
Vlbw Infants ◽  
Metabolic Side Effects ◽  
Single Centre Experience
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