Two Siblings With Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (Pfapa) Syndrome

Abstract

PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, adenitis) is a benign sporadic syndrome of unknown cause. We report 2 siblings diagnosed with this syndrome. The second case started crisis simultaneously with recurrence of crisis after a 3-year free interval in her brother. This temporal relation suggests environmental factor acting in genetically predisposed children.

Long-term Surgical Outcomes of Adenotonsillectomy for PFAPA Syndrome

“…Other sibling sets 9,10 and reports of positive family history in firstand second-generation members 11,12 further support a possible genetic component to this entity.…”

PFAPA syndrome in siblings. Is there a genetic background?

“…A few authors have classified some hereditary autoinflammatory disorders by genetic analyses, but no mutation has been identified yet in this syndrome. Although no familial relation had been previously described, some publications have reported cases in siblings during the past few years [1,6,18,21]. These descriptions further emphasize a thinkable genetic basis on its pathophysiology (Table 2).…”

“…The fast resolution of the attacks by steroids supports this theory. Even though no familial relation has been established, some publications have reported cases in siblings during the past few years [1,6,18,21]. The objective of this article is to describe the clinical findings, diagnostic work-up with genetic studies, and treatment of two siblings diagnosed with PFAPA syndrome.…”

Periodisches Fieber, aphthöse Stomatitis, Pharyngitis und Lymphadenitis (PFAPA-Syndrom) im Erwachsenenalter

“…Neben dem aktuellen Fallbeispiel wird nur in wenigen Publikationen der gegenwärtigen Literatur über Geschwisterpaare mit PFAPA-Syndrom berichtet [6,27,30,37]. Ein zugrundeliegender Gendefekt wurde bislang nicht nachgewiesen [4,8,20].…”

“…Die symptomatisch wirksamste Therapie basiert auf der einmaligen Gabe eines Kortikosteroids (1 -2 mg Prednisolon/kg Körpergewicht) zu Beginn des Fieberschubs [18,34,36]. Innerhalb kurzer Zeit kommt es zum Rückgang des Fiebers und zum Verschwinden der assoziierten Symptome [1,11,12,15,18,22,27,30,36]. Sehr umstritten ist die Therapie mittels Cimetidin.…”