Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Rare Etiology of Fever in Adults

Abstract

We report the case of a 28-year-old male, with a past history of recurrent pharyngitis and tonsillectomy, who presented to the emergency department with fever, pharyngitis, and cervical adenitis. Inflammatory markers were elevated and the patient was initially started on ceftriaxone with remission after four days. However, the symptoms recurred three weeks later and an autoinflammatory disease was suspected. After exclusion of other illnesses, a diagnosis of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome was confirmed. The patient was successfully treated with a single dose of 60 mg of prednisolone at the beginning of the flare.PFAPA syndrome has been classically diagnosed solely in children but cases in adults are being increasingly recognized. Despite the increasing evidence of the delayed onset of PFAPA syndrome during adulthood, no specific tools are available to detect it and diagnosis is currently based on clinical diagnostic criteria, which have very low specificity and are tailored to pediatric patients. This case report stresses the need to consider this entity seriously despite its rarity, even among the adult population, so as to reduce iatrogenesis, start appropriate therapy in a prompt manner, and improve the quality of life of PFAPA patients.

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome: A Single-Center Experience

“…Although the onset of the disease before the age of 5 is a mandatory criterion according to the modified Marshall’s criteria, there is an increasing number of papers reporting adult-onset PFAPA syndrome. 4 , 19 Hofer et al 12 reported that 10% of their patients that were classified as PFAPA patients based on expert opinion had disease onset after 5 years of age and the patients with late-onset disease showed similar clinical features compared with patients with disease onset before 5 years of age. Based on these findings, the authors suggested that age is not a reason for exclusion.…”

“… 2 , 3 Although the disease is commonly seen in childhood and resolves before the adolescent period, there is an increasing number of studies reporting the adult-onset PFAPA syndrome. 4 …”

Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome

“…This is the most common periodic fever condition in children with 90% of cases occurring before the age of 5 (pediatric onset). In recent times, increasing evidence suggesting a wider expression pattern of the disease has been pointed out, with disease onset in children over 5 years (late onset) and adults more common than initially suspected (2)(3)(4)(5).…”