PFAPA syndrome: a case report of a challenging diagnosis

Introduction: PFAPA syndrome (Periodic Fever, Aphthous stomatitis, Pharyngitis, and Adenitis) is the most common cause of periodic fever in childhood. Typically, it occurs in children up to five years old and is characterized by sudden and recurrent episodes of high-spiking fever accompanied by at least one of the other eponymous features. This case report enhances the importance of its recognition, to prevent unnecessary tests and/or treatments. Case description: We present a case of a four-year-old boy, with no relevant background, observed multiple times in primary and secondary care settings due to fever. His parents reported monthly episodes of high fever, usually along with pharyngitis, oral aphthosis, and/or cervical adenitis. He was completely asymptomatic between crises and showed normal growth and psychomotor development. Several oropharyngeal and nasal swab tests were performed, with negative results. After some investigation and articulation with his pediatrician, a diagnosis of PFAPA syndrome was made and he started oral corticosteroids, a single dose on the first day of every episode, obtaining fast and complete symptomatic relief. Comment: PFAPA syndrome diagnosis is challenging, and its process can trigger anxiety in the patient, his family, and even in healthcare professionals. However, this relatively common and benign condition tends to be self-limited, usually with spontaneous resolution before adolescence. Its recognition by the medical community is essential, particularly in primary care settings since family physicians are usually the first point of medical contact within the healthcare system. This case report enhances the family physician’s core competence to manage illness with nonspecific presentations and the importance of the interface with other specialties to provide the best care to the community.