The PFAPA syndrome: current paradigm and a clinical case description

Abstract

In the last decades, hereditary autoinflammatory diseases / syndromes (HAIDS) are in the focus of research and practical interests of clinicians. Common characteristics of all known HAIDS include periodic fever and systemic inflammation in combination with other clinical syndromes of certain persistence. According to current understanding, HAIDS are considered the primary immunodeficiency states, related to genetic disruption of the interplay between inflammation regulators that arise in the absence of any pathogen. Many HAIDS manifesting at childhood are associated with severe natural course and serious prognosis. An exception from this is one of the most prevalent HAIDS in children, the PFAPA syndrome, which has a favorable outcome. The term “PFAPA syndrome” is an acronym of the main clinical manifestations, such as Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis. Given the early age of its manifestation, coinciding with the time of a child's socialization, PFAPA patients can be mistakenly follow-up within the group of “frequently sick children” for many years, with high medication load. The disease is triggered by genetically determined dysregulation of congenital immunity associated with excessive production of inflammation mediators (IL-1, TNFα, IL-6, IL-12p70, etc.), with no signs of autoimmunity (autoantibodies, autoreactive T-lymphocytes). There are no specific biological markers for the PFAPA syndrome, therefore, the diagnosis is largely based on the knowledge of the main clinical symptoms of the disease, described in detail by G.S. Marshall (1987), and on the high efficacy of glucocorticosteroids. The authors present a clinical case of a 4 year and 3 month's child who suffered from repeated attacks of PFAPA-syndrome from the age of 1.5 years that recurred at a constant rate every 1.5 to 2 months. Initially, all PFAPA episodes were interpreted as manifestations of a complicated acute respiratory viral infection. Conventional therapy was ineffective. Medical examination of the parents showed chronic tonsillitis in the mother; her subsequent tonsillectomy had no effect on the course of the disease in the child. Only by the age of four, the diagnosis of the Marshall syndrome was first suspected and then confirmed. With a diagnostic and therapeutic purpose, prednisolone was administered at a dose of 1.5 mg/kg body weight with prompt normalization of the body temperature and improvement of the patients' general condition. Assessment performed at 6 months after this confirmed the adequacy of the treatment strategy, while the frequency of PFAPA episodes reduced and they became mild.Conclusion: It is necessary to increase doctors' awareness of HAIDS and of PFAPA syndrome in particular, that would ensure timely diagnosis and proper treatment.

Keywords

• hereditary autoinflammatory disease
• pfapa-syndrome
• marshall syndrome
• children