PFAPA syndrome is the most common periodic fever syndrome among children. Although genetic causes have not been determined, this syndrome tends to be grouped with hereditary fever syndromes Overview of Hereditary Periodic Fever Syndromes Hereditary periodic fever syndromes are hereditary disorders characterized by recurrent fever and other symptoms that are not explained by other causes. Most patients develop symptoms during... read more . It typically starts in early childhood (between ages 2 years and 5 years) and tends to be more common among males. Recently it has been recognized in adults as well (1 General reference PFAPA (periodic fevers with aphthous stomatitis, pharyngitis, and adenitis) syndrome is a periodic fever syndrome that typically manifests between ages 2 years and 5 years; it is characterized... read more ).
Febrile episodes last 3 to 6 days and recur about every 28 days. The syndrome causes fatigue, chills, and occasionally abdominal pain and headache, as well as fever, pharyngitis, aphthous ulcers, and lymphadenopathy. Patients are healthy between episodes, and growth is normal.
1. Rigante D, Vitale A, Natale MF, et al: A comprehensive comparison between pediatric and adult patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome. Clin Rheumatol 36(2):463–468, 2017. doi: 10.1007/s10067-016-3317-7
Diagnosis of PFAPA syndrome is based on clinical findings, which include the following:
≥ 3 febrile episodes, lasting up to 5 days and occurring at regular intervals
Pharyngitis plus adenopathy or aphthous ulcers
Good health between episodes and normal growth
Acute-phase reactants (eg, C-reactive protein, erythrocyte sedimentation rate) are elevated during a febrile episode but not between episodes. Neutropenia or other symptoms (eg, diarrhea, rash, cough) are not present; their presence suggests a different disorder. Specifically, cyclic neutropenia Diagnosis Neutropenia is a reduction in the blood neutrophil count. If it is severe, the risk and severity of bacterial and fungal infections increase. Focal symptoms of infection may be muted, but fever... read more needs to be ruled out.
1. Cantarini L, Vitale A, Sicignano LL, et al: Diagnostic criteria for adult-onset periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Front Immunol 8:1018, 2017. doi: 10.3389/fimmu.2017.01018
Sometimes glucocorticoids, cimetidine, and/or tonsillectomy
Treatment of PFAPA syndrome is optional and depends on the frequency and severity of flare-ups; it can include glucocorticoids, such as a single dose of prednisone (1 to 2 mg/kg orally) or betamethasone (0.1 to 0.2 mg/kg), which, when given at the onset of an episode can dramatically abort fever attacks in a few hours, cimetidine (20 to 40 mg/kg orally once a day), and, rarely, tonsillectomy. Other drugs such as anakinra and canakinumab have been tried with some success in refractory cases. Patients tend to outgrow this syndrome without sequelae.