Mustafa OĞULLUK, Fatih Mehmet KENİ, Erol AKTUNÇ

Tanı Süreci Uzun ve Tanınması Zor Olan Bir Hastalık: Ailevi Akdeniz Ateşi Hastalığı

Ailevi Akdeniz ateşi (FMF), otozomal resesif geçişli bir genetik hastalıktır. Türkiye'de tahmini FMF prevalansı 1/ 1000,taşıyıcılık oram ise 1/5 'tir. Türkiye FMF çalışma grubunun bildirdiği üzere, ülkemizde mevcut olan FMF hastalarımngünümüzde dahi %5 gibi çok düşük bir bölümünün tanısı konulmuş ve tedavisi başlanmıştır. Bu olgu sunumundakiamacımız, ülkemizde gittikçe kısalan ancak ortalama yıl sürdüğü bildirilen FMF hastalığı tamlama sürecininsıkıntılarına yeniden dikkat çekmektir.

a Disease Hard to Recognize and Diagnose: Familial Mediterranean Fever

Familial mediterranean fever (FMF) is an autosomal recessively inherited genetic disease. The estimated prevalence ofFMF in Turkey is 1/ 1000 and 1/5 individuals are disease carriers. As reported by the FMF study group in Turkey, only 5%of the FMF patients in our country have been diagnosed and are on treatment currently. Our aim in reporting this case isto draw attention to the painstaking diagnostic process of FMF, although the time for diagnosis is gradually shortening inour country, which currently takes years on average.

PDF

___

1. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: results of nationwide multicenter study. Medicine: Baltimore. 2005;84(l):l--11.
2. Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R. FamilialMediterraneanfever: prevalence, penetranceandgeneticdrift. Eur Hum Genet 2001 ;9(8):634-637.
3. Dine A, Pay S, Turan M, Simsek 1. Prevalence of familial Mediterranean fever in young Turkish men. Clin Exp Rheumatol. 2000;18:292.
4. Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, et al. Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: field study. The Journal of rheumatology 1998;25(12):2445--2449.
5. Etem E, Deveci S. D, Erol D, Yuce H, Elyas H. Familial Mediterranean fever: retrospective clinica land molecular study in the east of Anatolia Region of Turkey. Open Rheumatol 2010;4:1--6.
6. Bilgen S. A, Kilic L, Akdogan A, Kiraz S, Kalyoncu U, Karadag O, et al. Effects of anti--tumor necrosis factor agents for familial Mediterranean fever patients with chronic arthritis and/or sacroiliitis Who were resistant to colchicine treatment. ClinRheumatol 2011;17(7):358--362.
7. Pras M, Sohar E. Familial Mediterranean fever. In: Klippel JH, Dieppe PA (eds). Rheumatology. St. Louis: Mosby; 1994;30:3--4.
8. Ozdogan H, Arisoy N, Kasapcopur O, Sever L, Caliskan S, Tuzuner N, et al. Vasculitis in familialMediterraneanfever. Rheumatol. 1997;24:323--327.
9. Ozen S, Ben--Chetrit E, Bakkaloglu A, Gur H, Tinaztepe K, Calguneri M, et al. Polyarteritis nodosa in patients with familial Mediterranean fever (FMF): concomitant disease or feature of FMF? Seminars in arthritis and rheumatism 2001 ;302281--287.
10. Touitou [, Picot M. C, Domingo C, Notarnicola C, Cattan D, Demaille J, et al. The MICA region determines the first modifier locus in familial Mediterranean fever. Arthritis&Rheumatism 2001 ;44: 163--169.