Familial Mediterranean Fever

Familial Mediterranean fever (FMF), the most prevalent monogenic autoinflammatory disease (AID), is characterized by recurrent, self-limited episodes of fever and serositis. The most significant complication of FMF and cause of premature disease-associated mortality is amyloidosis, which can be prevented by prophylactic colchicine treatment. The diagnosis of FMF is often challenging, leading to delays in initiating appropriate treatment. Advances in molecular biology over the last decades have greatly improved the diagnosis and understanding of AID, revealing new syndromes and underscoring the crucial role of genetics in diagnosing FMF and other related conditions. However, this progress has also brought complexity due to the identification of numerous genetic variations associated with physiologically inappropriate activation of innate immunity. With similar symptoms presenting in various AID, well-defined diagnostic criteria play a vital role in ensuring accurate diagnosis and guiding proper medical management and interventions. In response to these challenges, diagnostic and classification criteria have been developed for AID in general, and FMF in particular. While their effectiveness can vary across diverse populations and patient groups, they collectively contribute to earlier and more precise diagnoses. However, further refinement and extensive validation efforts are needed to improve the clinical reliability of these criteria.