Centre national de Référence des maladies Auto-Inflammatoires, CeRéMAI, Centre Hospitalier de Versailles, 177, rue de Versailles, 78150 Le Chesnay Cedex, France.
Semin Arthritis Rheum. 2013 Dec;43(3):387-91. doi: 10.1016/j.semarthrit.2013.04.011. Epub 2013 Jun 3.
Familial Mediterranean Fever (FMF) is the most common recurrent autoinflammatory fever syndrome. Still, many issues-e.g.: colchicine dosage adjustment, maximum dosage of colchicine in children and adults, definition of colchicine resistance, alternative treatment solutions in colchicine-resistant patients, and genetic screening for asymptomatic siblings-have not yet been standardized. The current paper aims at summarizing consensus recommendations to approach these issues.
A literature review concerning these practical management questions was performed through PubMed. On the basis of this analysis, expert recommendations were developed during a consensus meeting of caregivers from France and Israel.
A patient experiencing more than four FMF attacks a year needs colchicine dose adjustment. In case of persistent attacks (≥6 per year) in patients with maximum doses of colchicine (2 mg in children; 3 mg in adults), alternative treatment to colchicine with IL1 inhibitors should be considered. Routine genetic testing for MEFV mutations in asymptomatic siblings of an index case is not recommended.
This is a first attempt to resolve practical questions in the daily management of FMF patients.
家族性地中海热（FMF）是最常见的复发性自身炎症性发热综合征。然而，许多问题，如秋水仙碱剂量调整、儿童和成人秋水仙碱的最大剂量、秋水仙碱耐药的定义、秋水仙碱耐药患者的替代治疗方案以及无症状兄弟姐妹的基因筛查等，尚未标准化。本文旨在总结这些问题的共识建议。
通过 PubMed 对这些实际管理问题的文献进行了回顾。在此分析的基础上，在法国和以色列的护理人员的共识会议上制定了专家建议。
每年经历四次以上 FMF 发作的患者需要调整秋水仙碱剂量。对于接受最大剂量秋水仙碱（儿童 2 毫克；成人 3 毫克）仍持续发作（每年≥6 次）的患者，应考虑使用 IL1 抑制剂替代秋水仙碱治疗。不建议对索引病例的无症状兄弟姐妹进行常规 MEFV 突变基因检测。
这是首次尝试解决 FMF 患者日常管理中的实际问题。
