Cüneyt KARAGÖL, Müge SEZER, Tuba KURT, Banu ÇELİKEL ACAR, Fatma AYDIN, Elif ÇELİKEL, Zahide EKİCİ TEKİN, Nilüfer TEKGÖZ, Serkan COŞKUN

Ailevi Akdeniz Ateşi Tanılı Çocuklarda Uzamış Febril Miyalji Sendromu

GİRİŞ ve AMAÇ: Ailevi Akdeniz ateşi (AAA), tekrarlayan ateş, serozit ve sinovit atakları ile karakterize en sık görülen tek gen kalıtımlı otoinflamatuar hastalıktır. Uzamış febril miyalji sendromu (UFMS) AAA ilişkili nadir görülen ateş, miyalji, normal kas enzimleri ile karakterize hastalıktır. Bu çalışmada UFMS gelişen hastaların klinik, demografik özellikleri ve tedavi yaklaşımlarının sunulması amaçlanmıştır. YÖNTEM ve GEREÇLER: Eylül 2014-Mayıs 2019 yılları arasında hastanemizin çocuk romatoloji kliniğinde AAA tanısı ile izlenen 450 hastanın dosyası geriye dönük olarak incelendi. UFMS tanısı alan hastaların klinik, demografik, laboratuvar ve genetik verileri kaydedildi. BULGULAR: 450 (262 K/189 E) AAA hastasının 10’unda (%2,2) UFMS gelişti. Hastaların ortanca tanı yaşı 9 (6-14,1) yıldı. Hastaların tümünde ateş ve miyalji varken, altı hastada karın ağrısı, sekiz hastada artralji, iki hastada palpabl purpura mevcuttu. Ateş süresi ortanca 7 (4-14) gündü. Tanıya kadar geçen süre ortalama 19±11,69 gündü. On UFMS hastasının üçü bu dönemde AAA tanısı aldı. Dört hastaya 2 mg/kg/gün dozunda oral prednizolon, iki hastaya üç gün pulse metilprednizolon (30 mg/kg/gün, maksimum 1 gr/gün) sonrası 2 mg/kg/gün dozunda oral prednizolon, dört hastaya non-steroidal anti-inflamatuvar ilaç (NSAİİ) tedavisi verildi. Kortikosteroid ve NSAİİ tedavisi ile ortalama tedaviye yanıt süreleri sırasıyla 3,3±3,32 ve 9,2±4,34 gündü (p=0,038). Kortikosteroid ve NSAİİ ile tam düzelme sağlandı. TARTIŞMA ve SONUÇ: Uzamış febril miyalji sendromu nadir görülen AAA ilişkili vaskülitik hastalıktır. M694V mutasyonu ile güçlü bir ilişkisi olduğu bilinmektedir. AAA’nın ilk bulgusu olarak karşımıza gelebilir. Ateş, miyalji, karın ve eklem ağrısı en sık görülen bulgularken vaskülitik döküntü, kas güçsüzlüğü daha nadir görülen bulgulardır. Kortikosteroid ve NSAİİ ile sıklıkla tam düzelme sağlanmaktadır.

Protracted Febrile Myalgia Syndrome in Children with Familial Mediterranean Fever

INTRODUCTION: Familial Mediterranean fever (FMF) is the most common single gene inherited autoinflammatory disease characterized by recurrent fever, serositis and synovitis attacks. Protracted febrile myalgia syndrome (PFMS) is a rare FMF-related disease characterized by fever, myalgia, and normal muscle enzymes. The aim of this study is to present the clinical, demographic characteristics and treatment approaches of patients with PFMS. METHODS: The files of 450 patients who were followed up in our hospital's pediatric rheumatology department with a diagnosis of FMF between September 2014 and May 2019 were retrospectively reviewed. Clinical, demographic, laboratory and genetic data of patients diagnosed with PFMS were recorded. RESULTS: PFMS developed in 10 (2.2%) of 450 (262 F/189 M) FMF patients. The median age of diagnosis was 9 (6-14.1) years. All patients had fever and myalgia, six patients had abdominal pain, eight patients had arthralgia, and two patients had palpable purpura. The median duration of fever was 7 (4-14) days. The mean time until diagnosis was 19±11.69 days. Three of ten PFMS patients were diagnosed with FMF during this period. Oral prednisolone at a dose of 2 mg/kg/day in four patients, oral prednisolone at a dose of 2 mg/kg/day after three days of pulse methylprednisolone (30 mg/kg/day, maximum 1 g/day) in two patients, and non-steroidal anti- inflammatory drugs (NSAIDs) treatment were received. The mean duration of response to corticosteroid and NSAIDs treatment was 3.3±3.32 and 9.2±4.34 days, respectively (p=0.038). Complete recovery was achieved with corticosteroids and NSAIDs. DISCUSSION AND CONCLUSION: Prolonged febrile myalgia syndrome is a rare FMF-related vasculitic disease. It is known to have a strong association with the M694V mutation. It may appear as the first finding of FMF. Fever, myalgia, abdominal and joint pain are the most common findings, vasculitic rash and muscle weakness are less common findings. Complete improvement is often achieved with corticosteroids and NSAIDs.

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