Paediatric PFAPA Syndrome: an Easily Missed Diagnosis

Yıl 2024, Cilt: 24 Sayı: 2, 124 - 127, 15.08.2024

Ahmed Samaouel Chehad Nada Boutrid , Hakim Rahmoune

https://doi.org/10.26650/jchild.2024.1329799

Öz

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.

Anahtar Kelimeler

PFAPA syndrome, Periodic fever, Auto-inflammatory, Child

Kaynakça

• 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
• Wekell P. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome. Presse Medicale. 2019 Feb;48(1):e77-87. google scholar
• 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
• 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
• Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome. Pediatr Rheumatol. 2016 Dec;14(1):38. google scholar
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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