Kolşisin Dirençli Ailevi Akdeniz Ateşi Hastalığı: Tek Merkez Deneyimi

Abstract

Amaç: Ailevi Akdeniz Ateşi (AAA); tekrarlayan ateş ve serözit ataklarıyla karakterize genetik bir hastalıktır. Bu çalışmada kolşisin direnci olan pediatrik AAA hastaların klinik ve laboratuvar verileri ile tedavi yanıtlarını değerlendirmek amaçlanmıştır. Yöntem: Ağustos 2020 – Eylül 2023 tarihleri arasında polikliniğe başvuran ve AAA tanısı ile takipli olan 629 hastanın tıbbi kayıtları retrospektif olarak incelendi. Kolşisin direnci olan 29 hasta çalışmaya dahil edildi. Hastaların farklı farmasötik kolşisin preparat ve biyolojik ajan kullanım sonrasında atak sıklıkları ve tedavi yanıtları incelendi. Bulgular: AAA tanılı 629 hastanın 29’unda (%4,6) kolşisin direnci vardı. Hastaların %51,7’si kız, %48,3’ü erkekti, ortanca tanı yaşı 5,5 (1,5-17) yıldı. Hastalarımızın %48,3’ünde ailede AAA öyküsü ve %41,2’sinde M694V homozigot mutasyonu mevcuttu. Ataklarında tüm hastalarımızda karın ağrısı şikayeti olup ateş (%89,7) ve artralji (%72,4) sık görülen diğer şikayetlerdi. Öncelikle hastaların 27’sine (%93,1) ithal kolşisin preparatı başlandı. Hastaların ortanca ilaç başlama yaşı 7 (3-18) yıldı. Atak sayıları anlamlı olarak azaldı. İthal kolşisin kullanan 27 hastadan; tedaviye yanıt vermeyen 9 hastaya biyolojik ajan tedavisi başlandı. İki hastamızda ise direkt biyolojik ajan tedavisine geçildi. Biyolojik tedavi sonrasında atak sayısında ve atak aralarında bakılan C-reaktif protein düzeyinde anlamlı olarak düşüş saptandı. Anakinra (Interlökin-1 reseptör antagonisti) tedavisi sonrasında lokal alerjik reaksiyon dışında ciddi yan etki görülen hastamız olmadı. Sonuç: Kolşisin tedavisi altındayken atakları devam eden hastalarda biyolojik ajana geçilmeden önce kolşisinin ithal formu denenebilir. Dirençli vakalarda biyolojik ajana geçilerek hem atak sıklığı hem de atak aralarında subklinik inflamasyon bulguları azalmaktadır.

Keywords

• Ailevi Akdeniz Ateşi
• Kolşisin direnci
• Interlökin 1

Colchicine-Resistant Familial Mediterranean Fever: A Single-Center Experience

Abstract

Objective: Familial Mediterranean Fever (FMF) is a hereditary disease characterized by recurrent attacks of fever and serositis. This study aimed to comprehensively assess the clinical and laboratory data, as well as treatment responses in pediatric FMF patients with colchicine resistance. Method: A retrospective analysis of 629 outpatient medical records of patients diagnosed with FMF from August 2020 to September 2023 identified 29 colchicine-resistant FMF patients. The study assessed attack frequency and treatment responses to various pharmaceutical colchicine preparations and biological therapies. Results: Among 629 FMF patients, 29 (4.6%) exhibited colchicine resistance. Gender distribution was 51.7% female and 48.3% male, with a median diagnosis age of 5.5 years (1.5-17 years). Nearly half had a family history of FMF, and 41.2% had the M694V homozygous mutation. All experienced abdominal pain during attacks; common symptoms were fever (89.7%) and arthralgia (72.4%). The median age of medication initiation was 7 (3-18) years. The number of attacks decreased significantly. Among 27 patients using imported colchicine; Biological agent treatment was started in 9 patients who did not respond to treatment. In two of our patients, a biological agent was started directly. After biological treatment, a significant decrease was detected in the number of attacks and the C-reactive protein level measured between attacks. No severe side effects were reported except localized allergic reactions to Anakinra (Interleukin-1 receptor antagonist) treatment. Conclusion: For patients experiencing persistent attacks under colchicine treatment, the use of imported forms of colchicine can be considered before transitioning to biologic therapies. In cases of resistance, a switch to biological therapies demonstrates efficacy in reducing both the frequency of attacks and subclinical inflammation between episodes.

Keywords

• Familial Mediterranean fever
• Colchicine resistance
• Interleukin-1

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