Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

Abstract

Introduction: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome is a non Mendelian autoinflammatory disorder until now considered to be specifically limited to paediatric age. However there is recently mounting evidence that children older than 5 years and adults may present with the typical picture of PFAPA syndrome. Objectives: We report the case of a 17,5 years old girl presenting with recurrent episodes of fever starting at the age of 16. Methods: A 17,5 years old girl was referred to our department due to recurrent episodes of fever lasting 3-4 days and starting 1,5 year ago. Body temperature usually increased up to 40.5∘C. Fever was accompanied by exudative pharyngitis, cervical lympadenopathy, severe malaise and myalgias/artralgias. Oral apthosis was present in some of the episodes. There was no other sign of upper respiratory tract infection. Headache and fatigue were evident 2-3 days before each flare.The episodes recurred very regularly showing an almost clockwork periodicity (every 35-40 days). The girl was completely asymptomatic between flares with normal growth and development. The girl's mother suffered from similar episodes of exudative pharyngitis until approximately the age of 12. Results: Laboratory exams during febrile attacks showed mild leukocytosis with prominence of neutrophils and a significant increase of monocytes. Erythrocyte sedimentation rate,C-reactive protein and Serum Amyloid A were also raised. Serum immunoglobulin levels (including IgD) were normal. During episodes all the cultures were negative.Inflammatory markers were completely normal between attacks.The girl was diagnosed with PFAPA syndrome based on Marshall criteria revised by Thomas et al.,neglecting the item of disease onset before the age of five. Genetic testing for FMF is pending. Tonsillectomy was not proposed as a therapeutic option because it seems not to be effective in adults, based on current literature. A single dose of prednisone (1 mg/ kg) given a few hours after the onset of fever dramatically abrupted fever attack in a few hours, supporting the diagnosis of PFAPA.The girl did not experience a free interval shortening after steroid administration. Conclusion: Once thought to be exclusive of the pediatric age, it is nowadays clear that PFAPA syndrome may have its onset in adulthood. Clinical features of PFAPA adults are overlapping with those of PFAPA children.To date, it is not known whether adults with PFAPA syndrome may spontaneously undergo clinical remission, and tonsillectomy does not seem to be a valid option in these patients. The description of PFAPA syndrome in adults should increase awareness among clinicians and suggests that the age criterion (i.e., age at onset less than 5 years) should not be considered mandatory for diagnosis Disclosure of Interest None Declared Disease outcome B2 Case of paraneoplastic arthritis in child