Abstract：
Familial Mediterranean fever is the most common monogenic auto-inflammatory disease in the world. It mainly affects people originating from the Mediterranean region. The mutated gene is MEFV, which codes for pyrin. Transmission is autosomal recessive. Patients present with recurrent attacks of fever since childhood associated with abdominal and/or thoracic pain lasting an average of 2-3days and a biological inflammatory syndrome. Other symptoms include arthralgia or arthritis in large joints such as the knees and ankles, myalgia in the lower limbs and pseudo-erysipelas in the ankles. The most serious complication is inflammatory amyloidosis, which can lead to kidney failure. Treatment is based on colchicine, which helps to prevent flares and the onset of renal amyloidosis. This paper proposes national guidelines for the diagnosis, management and follow-up of familial Mediterranean fever in France, where we estimate there are between 5000 and 10,000 patients with the disease at all stages of life. The diagnosis is suspected on the basis of clinical and anamnestic factors and confirmed by genetic analysis. These guidelines also suggest a \"treat-to-target\" approach to disease management, particularly in case of suspected colchicine resistance - a very rare situation that should remain a diagnosis of elimination, especially after colchicine compliance has been verified. Two special situations are also addressed in these guidelines: kidney failure and pregnancy.
摘要：
家族性地中海热是世界上最常见的单基因自身炎性疾病。它主要影响来自地中海地区的人。突变基因是MEFV,Pyrin的代码。传播是常染色体隐性遗传。患者表现为自幼以来反复发作的发烧，伴有平均持续2-3天的腹部和/或胸痛以及生物学炎症综合征。其他症状包括膝关节和脚踝等大关节的关节痛或关节炎，下肢肌痛和脚踝假丹毒。最严重的并发症是炎性淀粉样变，会导致肾衰竭.治疗以秋水仙碱为主,这有助于预防耀斑和肾淀粉样变性的发作。本文提出了国家诊断指南，法国家族性地中海热的管理和随访，我们估计在生命的各个阶段都有5000到10000名患者。根据临床和记忆障碍因素怀疑诊断，并通过遗传分析证实。这些指南还提出了一种“治疗到目标”的疾病管理方法，特别是在怀疑秋水仙碱耐药性的情况下-一种非常罕见的情况，应该仍然是消除的诊断，特别是在秋水仙碱依从性得到验证后。这些指南还涉及两种特殊情况：肾衰竭和怀孕。
