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EULAR Recommendations for the Management of Familial ARD Online First, published on January 22, 2016 as 10.1136/annrheumdis-2015-208690 Ann Rheum Dis: first published as 10.1136/annrheumdis-2015-208690 on 22 January 2016. Downloaded from Recommendation EULAR recommendations for the management of familial Mediterranean fever Seza Ozen,1 Erkan Demirkaya,2 Burak Erer,3 Avi Livneh,4 Eldad Ben-Chetrit,5 Gabriella Giancane,6 Huri Ozdogan,7 Illana Abu,8 Marco Gattorno,9 Philip N Hawkins,10 Sezin Yuce,11 Tilmann Kallinich,12 Yelda Bilginer,13 Daniel Kastner,14 Loreto Carmona15 Handling editor Tore K Kvien ABSTRACT efficacious and cost-effective treatment exists. ▸ Additional material is Familial Mediterranean fever (FMF) is the most common Attempts to resolve practical questions in the daily published online only. To view monogenic autoinflammatory disease, but many management of patients with FMF have been pub- please visit the journal online rheumatologists are not well acquainted with its lished,12but these guidelines have addressed only (http://dx.doi.org/10.1136/ annrheumdis-2015-208690) management. The objective of this report is to produce limited aspects of management, most particularly evidence-based recommendations to guide colchicine therapy, and have overlooked other fi For numbered af liations see rheumatologists and other health professionals in the important facets of management. end of article. treatment and follow-up of patients with FMF. A An international collaboration of experienced Correspondence to multidisciplinary panel, including rheumatologists, experts from numerous countries advocated these Professor Seza Ozen, internists, paediatricians, a nurse, a methodologist and a recommendations. The objective was to guide phy- Department of Pediatric patient representative, was assembled. Panellists came sicians who are not experts in the disease in a wide Rheumatology, Hacettepe University Faculty of Medicine, from the Eastern Mediterranean area, Europe and North range of management aspects, by exploring and Ankara 06100, Turkey; America. A preliminary systematic literature search on the then establishing evidence-based recommendations [email protected] pharmacological treatment of FMF was performed from a multidisciplinary perspective. following which the expert group convened to define The scope of these recommendations includes Received 25 November 2015 aims, scope and users of the guidelines and established FMF itself, its complications and comorbidities that Revised 1 January 2016 Accepted 3 January 2016 the need for additional reviews on controversial topics. may affect its management. The users are expected In a second meeting, recommendations were discussed to be physicians—mainly rheumatologists and pae- and refined in light of available evidence. Finally, diatricians—and other healthcare professionals who agreement with the recommendations was obtained care for patients with FMF. It is hoped that these from a larger group of experts through a Delphi survey. recommendations will also be used by policymakers The level of evidence (LoE) and grade of and health authorities with financial responsibility recommendation (GR) were then incorporated. The final for the care of these patients. document comprises 18 recommendations, each As per the overarching principles, the recommen- presented with its degree of agreement (0–10), LoE, GR dations are evidence based to the greatest possible and rationale. The degree of agreement was greater extent. However, in areas for which limited infor- than 7/10 in all instances. The more controversial mation exists, a pragmatic consensus of expert http://ard.bmj.com/ statements were those related to follow-up and dose opinion has also been employed. change, for which supporting evidence is limited. A set of widely accepted recommendations for the treatment METHODS and monitoring of FMF is presented, supported by the For these recommendations, we used the following best available evidence and expert opinion. It is believed methodologies: discussion group, systematic that these recommendations will be useful in guiding reviews and Delphi technique. These recommenda- on September 29, 2021 by guest. Protected copyright. physicians in the care of patients with FMF. tions were developed according to the European League Against Rheumatism (EULAR) standardised operating procedures (SOPs), including the categor- INTRODUCTION isation of evidence.3 Autoinflammatory diseases (AIDs) are rare clinical The discussion group was formed by a multi- conditions, of which familial Mediterranean fever national multidisciplinary panel, including rheuma- (FMF) is the most common. Unfortunately, medical tologists, internists, paediatricians, a nurse, a curricula and many rheumatological centres do not methodologist and a patient representative. There cover these syndromes adequately, resulting in lack were 10 experts and a patient representative on the of knowledge in identifying the optimal manage- panel. The panel was moderated by a methodolo- ment of these patients. In general, FMF can be well gist (LC) and determined the users, aims and scope controlled with appropriate use of medications and of the recommendations, along with the structure monitoring. However, different views on manage- of the document. Systematic reviews were per- To cite: Ozen S, ment exist depending on the experience of the formed prior to the panel discussions. These ana- Demirkaya E, Erer B, et al. caring physician, the geographic area and available lysed available evidence on efficacy and safety of Ann Rheum Dis Published Online First: [please include health resources, which can impact negatively on treatments in FMF and reviewed the incidence of Day Month Year] clinical outcome. Disparities in the management of complications, including amyloidosis, renal failure doi:10.1136/annrheumdis- diseases are not acceptable if unrelated to the sever- and infertility. In addition, during the discussion, 2015-208690 ity of the underlying phenotype, especially when the panel decided to review the contribution of Ozen S, et al. Ann Rheum Dis 2016;0:1–8. doi:10.1136/annrheumdis-2015-208690 1 Copyright Article author (or their employer) 2016. Produced by BMJ Publishing Group Ltd (& EULAR) under licence. Recommendation Ann Rheum Dis: first published as 10.1136/annrheumdis-2015-208690 on 22 January 2016. Downloaded from serum amyloid A (SAA) protein and C reactive protein (CRP) to FMF can be treated by different experienced specialists, management and predicting complications. The systematic namely clinical geneticists, paediatric and adult rheumatologists, reviews were performed by three fellows (ED, BE, GG) under internists, nephrologists and gastroenterologists. A specialist the supervision of the methodologist. The methods and full with experience in FMF is a physician usually working in a review of two subject areas (efficacy and acute phase reactants referral centre who is involved in the clinical care of patients (APR)) have been published.45 with FMF and is capable of dealing with difficult cases and The experts formulated practical recommendations during the other AIDs that are potential differential diagnoses. Following first meeting and clarified the rationale for the statements. All diagnosis and initiation of therapy, patients can also be followed recommendations and rationales were structured as a matrix by their general practitioner or paediatrician in conjunction enabling on-line comments from all collaborators. The docu- with the referral centre. It is recommended that, if possible, ment was discussed in a second meeting, and votes were taken patients are reviewed by a physician with experience of FMF at on the recommendations. When there was high discordance least once per year in the long term. (a SD greater than 2 or an IQR greater than 5), the recommen- 2. The ultimate goal of treatment in FMF is to obtain complete dation was discussed and reformulated, and when there was control of unprovoked attacks and minimise subclinical inflam- agreement against the recommendation, it was dropped. Finally, mation in between attacks. the document was refined and reformatted to improve readabil- There are two main goals in the treatment of FMF. The first ity and understanding. The methodologist added the level of is to prevent the clinical attacks and the second is to suppress evidence (LoE) and grade of recommendation to each statement, chronic subclinical inflammation and elevation of APR, in par- based on the Oxford Centre for Evidence Based Medicine ticular SAA protein, and its consequences, including amyloid A guidelines.6 In parallel, the recommendations were converted (AA) (secondary) amyloidosis and other long-term complica- into items of a Delphi survey and submitted to 67 experts, tions. Improved quality of life by reducing the attacks is an included the panel (listed in online supplementary appendix), to achievable target in most patients. However, complete cessation determine the level of agreement. Agreement was graded from of attacks may not be possible in patients with more severe 0—‘no agreement’ to 10—‘maximum agreement’. forms of FMF, notably including many of those who are homo- zygous for M694V. Very importantly, the development of AA amyloidosis can be prevented when treatment substantially RESULTS maintains normal SAA protein concentration between attacks. The recommendations are presented in text with the rationale This is an especially important objective in patients with a – plus in table 1, with the LoE and agreement by a large group of family history of AA amyloidosis.7
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