{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T03:13:30Z","timestamp":1791515610403,"version":"4.3.4"},"reference-count":63,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T00:00:00Z","timestamp":1742688000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2\u20133 days. Colchicine is the mainstay therapy, which decreases the number of attacks and eventually prevents amyloidosis, the most worrisome complication of uncontrolled FMF. It is an autosomal recessive disease. The high rate of MEFV gene mutations in specific populations has been discussed as the result of an evolutionary advantage. Tel-Hashomer criteria were the first set of criteria primarily designed for adults. Recently, the Eurofever\/PRINTO group has validated a new set of classification criteria for FMF, including clinical and genetic variables. Colchicine intolerance is an important problem and limits the ability to reach an effective dose. In these groups of patients, adding an alternative biological treatment (anti IL-1 agents) is recommended. Several tools such as FMF50, AIDAI, ADDI, ISSF and MASIF have been proposed to evaluate and quantify the disease activity and organ damage. Ongoing research should clarify the exact mechanisms causing FMF attacks and phenotypic variabilities between the patients; further translational research requires the implementation of proteomics and epigenetics signatures to elucidate the pathogenesis.<\/jats:p>","DOI":"10.3390\/diagnostics15070813","type":"journal-article","created":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T10:53:54Z","timestamp":1742900034000},"page":"813","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Familial Mediterranean Fever; Recent Advances, Future Prospectives"],"prefix":"10.3390","volume":"15","author":[{"given":"Micol","family":"Romano","sequence":"first","affiliation":[{"name":"Pediatric Rheumatology, Schulich School of Medicine, Western University, London, ON N6A 3K7, Canada"},{"name":"Canadian Behcet and Autoinflammatory Disease Center (CAN BE AID), Western University, London, ON N6A 3K7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Piskin","sequence":"additional","affiliation":[{"name":"Canadian Behcet and Autoinflammatory Disease Center (CAN BE AID), Western University, London, ON N6A 3K7, Canada"},{"name":"Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 3K7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8350-3698","authenticated-orcid":false,"given":"Ovgu","family":"Kul Cinar","sequence":"additional","affiliation":[{"name":"Department of Paediatric Rheumatology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK"},{"name":"NIHR Biomedical Research Centre, Great Ormond Street Hospital, London WC1N 3BH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6542-2656","authenticated-orcid":false,"given":"Erdal","family":"Sag","sequence":"additional","affiliation":[{"name":"Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, 06230 Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s11926-017-0670-8","article-title":"Autoinflammatory Diseases with Periodic Fevers","volume":"19","author":"Sag","year":"2017","journal-title":"Curr. 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