Familial Mediterranean Fever (FMF): Emerging Concepts in Diagnosis, Pain Management, and Novel Treatment Options: A...

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.