Single Center Experience of Periodic Fever Syndromes

Abstract

Objective: We aimed to evaluate the patients referred to the pediatric rheumatology outpatient clinic with suspected periodic fever syndromes. Method: Patients diagnosed with periodic fever syndrome in the pediatric rheumatology outpatient clinic between March 2018 and March 2019 were evaluated. Results: A total of 1561 patients were diagnosed with rheumatologic disease in a year-long period. Of these patients, 738 (47.3%) had recurrent fever syndromes. Of these, 591 patients had familial Mediterranean fever (FMF), 91 had periodic fever syndrome with aphthous stomatitis, pharyngitis and adenitis (PFAPA), 2 had mevalonate kinase (MVK) deficiency-hyperimmunoglobulin D syndrome (HIDS), 2 had cryopyrinassociated periodic fever syndrome (CAPS) and 1 patient was diagnosed with tumor necrosis factor (TNF) receptor-associated periodic fever syndrome (TRAPS). Fifty-one patients who did not comply with the classification criteria and did not carry any mutations in the genetic tests were diagnosed with undefined autoinflammatory disease. Conclusion: The diagnosis of periodic fever syndromes requires attentive evaluation. A detailed questioning of the symptoms and signs of the patient will prevent unnecessary referrals to pediatric rheumatology units and will decrease the expenses of healthcare.

Keywords

• Familial Mediterranean fever
• autoinflammatory disease
• periodic fever syndromes

Tekrarlayan Ateş Sendromlarında Tek Merkez Deneyimi

Abstract

Amaç: Çocuk romatoloji polikliniğine tekrarlayan ateş sendromu şüphesi ile yönlendirilen hastaların değerlendirilmesi amaçlandı. Yöntem: Mart 2018-Mart 2019 tarihleri arasında çocuk romatoloji polikliniğinde tekrarlayan ateş sendromu tanısı alan hastalar değerlendirildi. Bulgular: Bir yıl süresince toplam 1561 hastaya romatolojik hastalık tanısı konuldu. Bu hastaların 738 (%47,3)’ini tekrarlayan ateş sendromları oluşturmaktaydı. Hastaların 591’i ailevi Akdeniz ateşi (AAA), 91’i aftöz stomatit, farenjit ve adenit ile giden periyodik ateş sendromu (PFAPA), 2’si mevalonat kinaz (MVK) eksikliği-hiperimmünoglobulin D sendromu (HİDS), 2’si kriyopirin ilişkili periyodik ateş sendromu (CAPS), 1’i tümör nekroz faktör (TNF) reseptörü ilişkili periyodik ateş sendromu (TRAPS) tanısı aldı. Sınıflandırma ölçütlerine uymayan ve genetik inceleme sonuçlarında mutasyon saptanmayan 51 hastaya ise sınıflandırılamayan otoinflamatuar hastalık-tekrarlayan ateş sendromu tanısı konuldu. Sonuç: Tekrarlayan ateş sendromlarının teşhisi dikkatli bir değerlendirme gerektirir. Hastanın belirti ve bulgularının detaylı bir şekilde sorgulanması çocuk romatoloji birimlerine gereksiz yönlendirmelerini önleyecek ve sağlık harcamalarını azaltacaktır.

Keywords

• Ailevi Akdeniz ateşi
• otoinflamatuar hastalık
• tekrarlayan ateş sendromları

References

1. 1. Karyl S. Barron DLK. Periodic Fever Syndromes and Other Inherited Autoinflammatory Diseases. In: Ross E. Petty RML, Carol B. Lindsley, Lucy R. Wedderburn, editor. Textbook of Pediatric Rheumatology. Philadelphia, PA: Elsevier; 2016. p. 609-27. google scholar
2. 2. Federici S, Sormani MP, Ozen S, Lachmann HJ, Amaryan G, Woo P, et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 2015;74(5):799-805. google scholar
3. 3. Lachmann HJ. Periodic fever syndromes. Best Pract Res Clin Rheumatol 2017;31(4):596-609. google scholar
4. 4. 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- 32. google scholar
5. 5. Yalcinkaya F, Ozen S, Ozcakar ZB, Aktay N, Cakar N, Duzova A, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009;48(4):395-8. google scholar
6. 6. Vanoni F, Federici S, Anton J, Barron KS, Brogan P, De Benedetti F, et al. An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA). Pediatr Rheumatol Online J 2018;16(1):27. google scholar
7. 7. Federici S, Vanoni F, Ben-Chetrit E, Cantarini L, Frenkel J, Goldbach-Mansky R, et al. An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome. J Rheumatol 2019;46(4):429-36. google scholar
8. 8. Miyamae T, Hanaya A, Kawamoto M, Tani Y, Kawaguchi Y, Yamanaka H. Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. J Clin Rheumatol 2020;26(2):60-2. google scholar

9. 9. Federici L, Rittore-Domingo C, Kone-Paut I, Jorgensen C, Rodiere M, Le Quellec A, et al. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 2006;65(11):1427-32. google scholar
10. 10. De Pauli S, Lega S, Pastore S, Grasso DL, Bianco AMR, Severini GM, et al. Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center. World J Clin Pediatr 2018;7(1):49-55. google scholar
11. 11. Adrovic A, Sahin S, Barut K, Kasapcopur O. Familial Mediterranean fever and periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: shared features and main differences. Rheumatol Int 2019;39(1):29-36. google scholar
12. 12. Ter Haar NM, Eijkelboom C, Cantarini L, Papa R, Brogan PA, Kone-Paut I, et al. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases. Ann Rheum Dis 2019;78(10):1405-11. google scholar