Ailesel Akdeniz Ateşi
Özet
Ailesel Akdeniz Ateşi (FMF), tekrar eden ateş atakları ve seröz zar iltihabı ile karakterize olmuş kalıtsal bir otoinflamatuar hastalıktır. Tekrarlayan ataklar, bir veya daha fazla bölgede serozite bağlı olarak yüksek ateş ve şiddetli ağrı ile semptom verir. Serozit, sırasıyla plörit, sinovit veya peritonite bağlı olarak göğüs, eklem veya karın ağrısına neden olabilir. Ataklar genellikle bir ile üç gün sürer ve bu sürenin ardından kendiliğinden düzelir. Ataklar arasında hastalarda herhangi bir semptom gözlenmez ve normal hayatlarına devam ederler. FMF'li hastaların çoğu ilk ataklarını erken çocukluk döneminde yaşar. Plörit, peritonit veya sinovite eşlik eden tekrar eden ateşli ataklar, altta yatan tanımlanabilir bir patoloji olmaksızın akut karın nedeniyle tekrarlayan laparotomiler, tekrarlayan erizipel benzeri eritem, FMF'li birinci derece akraba ve/veya risk altındaki bir etnik gruba mensup kişilerde hastalıktan şüphelenilmelidir. FMF'nin endemik olduğu ülkelerde yaşayan hastalar için tanı, aile öyküsüyle desteklenerek ve klinik semptomlara dayanarak konulur. Hastalığın tedavisinde kolşisin temel ilaçtır, interlökin-1 inhibitörleri de tedaviye eklenebilir. Atak sırasında acil servislerde hidrasyon, parasetamol, nonsteroid antiinflamatuar ilaçlar uygulanabilir. Hastalık uygun şekilde tedavi edilmediği takdirde en sık görülen komplikasyonu AA tip renal amiloidozdur. Bu hastalar acil servise başvurduklarında detaylı anamnez ve aile öyküsü sorgulanmalı, sistemik muayene gerçekleştirilmeli ve akut batın hastalıklarının ayırıcı tanısında FMF akılda tutulmalıdır.
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes of fever and inflammation of the serous membranes. Recurrent attacks present with high fever and severe pain resulting from serositis in one or more regions. Serositis may cause chest, joint, or abdominal pain due to pleuritis, synovitis, or peritonitis, respectively. Attacks typically last between one and three days and resolve spontaneously thereafter. Patients remain asymptomatic between attacks and are able to continue their normal lives. Most individuals with FMF experience their first attack in early childhood.For the diagnosis of FMF, recurrent febrile episodes accompanied by pleuritis, peritonitis, or synovitis should raise suspicion, particularly in the absence of an identifiable underlying pathology; in cases of recurrent laparotomies performed for acute abdomen without a clear cause; in the presence of recurrent erysipelas-like erythema; and in individuals with a first-degree relative diagnosed with FMF and/or belonging to an at-risk ethnic group. In countries where FMF is endemic, the diagnosis is established based on clinical symptoms supported by family history.Colchicine is the cornerstone of treatment, and interleukin-1 inhibitors may also be added to the therapeutic regimen. During an acute attack, hydration, paracetamol, and nonsteroidal anti-inflammatory drugs may be administered in emergency settings. If not properly treated, the most common complication of the disease is AA-type renal amyloidosis. When these patients present to the emergency department, a detailed medical and family history should be obtained, a comprehensive systemic examination should be performed, and FMF should be considered in the differential diagnosis of acute abdominal conditions.
Referanslar
Ozdogan H, Ugurlu S. Familial Mediterranean fever. Presse Med. 2019;48(1 Pt 2):e61–e76.
Tunca M, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Topaloglu R, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84(1):1–11.
The French FMF Consortium, Bernot A, Clepet C, et al. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25–31.
Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet. 2001;9(7):473–483.
Lidar M, Yaqubov M, Zaks N, Ben-Horin S, Langevitz P, Livneh A. The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. J Rheumatol. 2006;33(6):1089–1092.
Lancieri M, Bustaffa M, Palmeri S, Prigione I, Penco F, Papa R, et al. An update on familial Mediterranean fever. Int J Mol Sci. 2023;24(11):9584.
Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum. 2009;61(10):1447–1453.
Kishida D, Nakamura A, Yazaki M, Tsuchiya-Suzuki A, Matsuda M, Ikeda S. Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. Arthritis Res Ther. 2014;16(5):439.
Yalçinkaya F, Cakar N, Acar B, Tutar E, Güriz H, Elhan AH, et al. The value of the levels of acute phase reactants for the prediction of familial Mediterranean fever-associated amyloidosis: a case-control study. Rheumatol Int. 2007;27(6):517–522.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78(8):1025–1032.
Shinar Y, Ceccherini I, Rowczenio D, et al. ISSAID/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era. Clin Chem. 2020;66(4):525–536.
Bhatt H, Cascella M. Familial Mediterranean Fever. 2023 Jul 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 32809589.
Ozen S, Sağ E, Oton T, Gül A, Sieiro Santos C, Bayraktar D, et al. EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update. Ann Rheum Dis. 2025 Jun;84(6):899-909. doi: 10.1016/j.ard.2025.01.028. Epub 2025 Apr 9. PMID: 40234174.
Referanslar
Ozdogan H, Ugurlu S. Familial Mediterranean fever. Presse Med. 2019;48(1 Pt 2):e61–e76.
Tunca M, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Topaloglu R, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84(1):1–11.
The French FMF Consortium, Bernot A, Clepet C, et al. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25–31.
Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet. 2001;9(7):473–483.
Lidar M, Yaqubov M, Zaks N, Ben-Horin S, Langevitz P, Livneh A. The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. J Rheumatol. 2006;33(6):1089–1092.
Lancieri M, Bustaffa M, Palmeri S, Prigione I, Penco F, Papa R, et al. An update on familial Mediterranean fever. Int J Mol Sci. 2023;24(11):9584.
Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum. 2009;61(10):1447–1453.
Kishida D, Nakamura A, Yazaki M, Tsuchiya-Suzuki A, Matsuda M, Ikeda S. Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. Arthritis Res Ther. 2014;16(5):439.
Yalçinkaya F, Cakar N, Acar B, Tutar E, Güriz H, Elhan AH, et al. The value of the levels of acute phase reactants for the prediction of familial Mediterranean fever-associated amyloidosis: a case-control study. Rheumatol Int. 2007;27(6):517–522.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78(8):1025–1032.
Shinar Y, Ceccherini I, Rowczenio D, et al. ISSAID/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era. Clin Chem. 2020;66(4):525–536.
Bhatt H, Cascella M. Familial Mediterranean Fever. 2023 Jul 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 32809589.
Ozen S, Sağ E, Oton T, Gül A, Sieiro Santos C, Bayraktar D, et al. EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update. Ann Rheum Dis. 2025 Jun;84(6):899-909. doi: 10.1016/j.ard.2025.01.028. Epub 2025 Apr 9. PMID: 40234174.
