Kaye Alan D, Islam Rahib K, Nguyen Ivan D, Robin Connor J, Norwood Haley A, Baptiste Carlo Jean, McGregor David W, Barrie Sonnah, Parker-Actlis Tomasina Q, Ahmadzadeh Shahab, Islam Kazi N, Shekoohi Sahar
Department of Anesthesiology, Department of Pharmacology, Toxicology, and Neurosciences, Louisiana State University Health Sciences Center at Shreveport, Shreveport, LA, 71103, USA.
School of Medicine, LSU Health Sciences Center New Orleans, 1901 Gravier Street, New Orleans, LA, 70112, USA.
Curr Pain Headache Rep. 2025 Jan 9;29(1):22. doi: 10.1007/s11916-024-01345-0.
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder predominantly affecting individuals of Mediterranean and Middle Eastern descent, including those with certain heritages including Sephardic Jewish, Armenian, Turkish, and Arab. The disorder affects up to 1 in 200 people making it a very common etiology for pain states worldwide, including serositis mediated painful states of the chest, joint, and abdomen.
Defined by recurrent episodes of fever and inflammation, FMF can lead to not only severe pain, but complications such as renal amyloidosis, if untreated. This narrative review explores the genetic basis, clinical manifestations, diagnostic criteria, and current management strategies for FMF. Mutations in the MEFV gene result in the dysregulation of the pyrin inflammasome, leading to excessive production of inflammatory cytokines. Diagnosis primarily relies on clinical criteria supported by genetic testing. Colchicine remains the cornerstone of treatment, effectively preventing inflammatory attacks and complications. For colchicine-resistant patients, IL-1 antagonists like anakinra and canakinumab show promise, although their long-term benefits require further investigation. The present investigation underscores the importance of early diagnosis and integrated treatment approaches to improve patient outcomes, pain management, and quality of life.
家族性地中海热（FMF）是一种遗传性自身炎症性疾病，主要影响地中海和中东血统的个体，包括具有某些特定遗传背景的人群，如西班牙裔犹太人、亚美尼亚人、土耳其人和阿拉伯人。该疾病在每200人中就有1人受影响，使其成为全球疼痛状态的常见病因，包括由浆膜炎介导的胸部、关节和腹部疼痛状态。
FMF以发热和炎症反复发作定义，如果不治疗，不仅会导致严重疼痛，还会引发诸如肾淀粉样变性等并发症。本叙述性综述探讨了FMF的遗传基础、临床表现、诊断标准和当前的管理策略。MEFV基因突变导致吡喃素炎性小体失调，从而导致炎性细胞因子过度产生。诊断主要依赖于基因检测支持的临床标准。秋水仙碱仍然是治疗的基石，可有效预防炎症发作和并发症。对于对秋水仙碱耐药的患者，阿那白滞素和卡那单抗等IL-1拮抗剂显示出前景，尽管它们的长期益处需要进一步研究。本研究强调了早期诊断和综合治疗方法对于改善患者预后、疼痛管理和生活质量的重要性。
