Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
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DOI：
10.1136/annrheumdis-2014-206844
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发表时间：
2015-04-01
影响因子：
27.4
通讯作者：
Ozen, Seza
中科院分区：
文献类型：
--
作者：
Giancane, Gabriella;Ter Haar, Nienke M.;Ozen, Seza
家族性地中海热（FMF）是一种早发疾病，可导致显着的发病率。 2012 年，欧洲儿科风湿病单一中心和接入点 (SHARE) 启动，旨在优化和传播患有风湿病的儿童和年轻人的诊断和管理方案。目的是为 FMF 制定建议，重点是为缺乏经验的临床医生提供诊断工具，特别是关于 MEFV 突变的解释。基于证据的建议是使用欧洲抗风湿病联盟标准操作程序制定的。儿科风湿病专家专家委员会定义了系统文献综述的搜索术语。两位独立专家对文章的有效性和证据水平进行评分。通过在线调查对源自文献的建议进行了评估，并重新制定了同意率低于 80% 的声明。随后，所有建议均在共识会议上使用名义小组技术进行讨论，如果达成 80% 以上的一致意见，则所有建议均被接受。文献检索共检索到 3386 篇文章，其中 25 篇被认为相关，并根据有效性和证据水平进行评分。总共有 17 篇文章被评为有效并用于制定建议。共识会后，8项建议获得100%同意被接受。涵盖的主题包括 FMF 的临床诊断与基因诊断、基因型-表型相关性、基因型-发病年龄相关性、沉默携带者和淀粉样蛋白 A (AA) 淀粉样变性的风险，以及专家在 FMF 诊断中的作用。 SHARE 倡议提供了诊断 FMF 的建议，旨在促进整个欧洲改善和统一的护理。
Familial Mediterranean fever (FMF) is a disease of early onset which can lead to significant morbidity. In 2012, Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched with the aim of optimising and disseminating diagnostic and management regimens for children and young adults with rheumatic diseases. The objective was to establish recommendations for FMF focusing on provision of diagnostic tools for inexperienced clinicians particularly regarding interpretation of MEFV mutations. Evidence-based recommendations were developed using the European League against Rheumatism standard operating procedure. An expert committee of paediatric rheumatologists defined search terms for the systematic literature review. Two independent experts scored articles for validity and level of evidence. Recommendations derived from the literature were evaluated by an online survey and statements with less than 80% agreement were reformulated. Subsequently, all recommendations were discussed at a consensus meeting using the nominal group technique and were accepted if more than 80% agreement was reached. The literature search yielded 3386 articles, of which 25 were considered relevant and scored for validity and level of evidence. In total, 17 articles were scored valid and used to formulate the recommendations. Eight recommendations were accepted with 100% agreement after the consensus meeting. Topics covered were clinical versus genetic diagnosis of FMF, genotype-phenotype correlation, genotype-age at onset correlation, silent carriers and risk of amyloid A (AA) amyloidosis, and role of the specialist in FMF diagnosis. The SHARE initiative provides recommendations for diagnosing FMF aimed at facilitating improved and uniform care throughout Europe.