Familial Mediterranean Fever in a Patient with PFAPA Syndrome

Abstract

Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome is one of the recurrent fever syndrome in childhood. Headache, abdominal pain, and joint pain can be seen in some patients, in addition to the classical signs. PFAPA attacks resolve with prednisolone. Membranous tonsillitis, lymphadenopathy, and occasionally aphthae were detected during each episode in a patient presenting with high fever, about 12 times until four years of age. All attacks were resolved completely with single-dose prednisolone in the patient, who was diagnosed with PFAPA syndrome. Genetic analysis was requested because of abdominal pain that was occasionally observed during attacks. Heterozygous mutation of M694V was detected through genetic investigation, and colchicine was initiated. The patient was diagnosed with familial Mediterranean fever (FMF) due to resolved abdominal pain and recurrent fever after colchicine therapy. It is known that some FMF patients benefit from prednisolone therapy. Therefore, other periodic fever syndromes should be excluded before the diagnosis of PFAPA and FMF should be considered in patients with PFAPA syndrome complaining of recurrent abdominal pain.