TY - JOUR T1 - Paediatric PFAPA Syndrome: an Easily Missed Diagnosis AU - Rahmoune, Hakim AU - Chehad, Ahmed Samaouel AU - Boutrid, Nada PY - 2024 DA - August DO - 10.26650/jchild.2024.1329799 JF - Çocuk Dergisi PB - Istanbul University WT - DergiPark SN - 1308-8491 SP - 124 EP - 127 VL - 24 IS - 2 LA - en AB - PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) syndrome is an autoinflammatory condition characterised by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis, and cervical adenitis. It typically presents before the age of 5 years, with over 60% of cases occurring in males. The prevalence of PFAPA is unknown, but over 500 cases have been reported. The syndrome is diagnosed on the basis of clinical manifestations and is a diagnosis of exclusion. It is characterised by episodes of fever lasting for 3–6 days, with recurrences every 3–8 weeks. Patients are usually asymptomatic between episodes and show normal growth. The aetiology of PFAPA is unknown, it is considered an immune-mediated disease characterised by cytokine dysfunction. Genetic factors may also play a role, as suggested by the strong familial clustering of the syndrome. There is no specific treatment for PFAPA, and its management is based on controlling the symptoms and preventing future episodes. KW - PFAPA syndrome KW - Periodic fever KW - Auto-inflammatory KW - Child CR - Orphanet: PFAPA syndrome [Internet]. [cited 2024 Jan 2]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp. php?Expert=42642&lng=EN google scholar CR - Wekell P. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome. Presse Medicale. 2019 Feb;48(1):e77-87. google scholar CR - Lazea C, Damian L, Vulturar R, Lazar C. PFAPA Syndrome: Clinical, Laboratory and Therapeutic Features in a Single-Centre Cohort. Int J Gen Med. 2022 Aug;Volume 15:6871-80. google scholar CR - Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. 1987 Jan;110(1):43-6. google scholar CR - Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome. Pediatr Rheumatol. 2016 Dec;14(1):38. google scholar CR - Ali NS, Sartori-Valinotti JC, Bruce AJ. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. Clin Dermatol. 2016 Jul;34(4):482-6. google scholar CR - Semianchuk VB. Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (pfapa) syndrome in children. Wiadomosci Lek Wars Pol 1960. 2017;70(1):144-7. google scholar CR - Spivakovskaya A, Spivakovskiy Y, Cnernenkov Y, Dushanova A. AB1057. Difficulties in the diagnosis of the PFAPA syndrome in the real clinical pediatrician practice. In: Abstracts Accepted for Publication [Internet]. BMJ Publishing Group Ltd and European League Against Rheumatism; 2019 [cited 2024 Jan 2]. p. 1992.21992. Available from: https://ard.bmj.com/lookup/doi/10.1136/ annrheumdis-2019-eular.4296 google scholar CR - Costagliola G, Maiorino G, Consolini R. Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (PFAPA): A Clinical Challenge for Primary Care Physicians and Rheumatologists. Front Pediatr. 2019 Jul 5;7:277. google scholar CR - Crimi F, Mejbri M, Hentgen V, Dingulu G, Kone-Paut I, Georgin-Lavialle S, et al. SAT0507 Evaluation of the new classification criteria for PFAPA syndrome. In: Saturday, 15 June 2019 [Internet]. BMJ Publishing Group Ltd and European League Against Rheumatism; 2019 [cited 2024 Jan 2]. p. 1343.1-1343. Available from: https:// ard.bmj.com/lookup/doi/10.1136/annrheumdis-2019-eular.8057 google scholar CR - Vanoni F, Caorsi R, Aeby S, Cochard M, Anton J, Berg S, et al. Towards a new set of classification criteria for PFAPA syndrome. Pediatr Rheumatol Online J. 2018 Sep 21;16(1):60. google scholar CR - Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019 Aug;78(8):1025-32. google scholar CR - Gaggiano C, Rigante D, Sota J, Grosso S, Cantarini L. Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review. Clin Rheumatol. 2019 Jan;38(1):11-7. google scholar UR - https://doi.org/10.26650/jchild.2024.1329799 L1 - https://dergipark.org.tr/en/download/article-file/3274335 ER -