PFAPA syndrome as an hereditary autoinflamatory disorder

Introduction PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis, adenitis) is an autoinflammatory disease, for which no genetic marker has been identified yet, and its etiology remains unknown. However, the clinical and biochemical similarities to other autoinflammatory conditions, including Familial Mediterranean Fever (FMF), suggest that a genetic impairment might constitute the underlying cause of the disease. FMF is the most widespread monogenic autoinflamatory disorder. In 60% of patients affected by FMF two concurrent mutations of MEFV gene have been demonstrated, whereas in 30% one mutation of the same gene has been shown. In only 10% of patients, no genetic marker has been identified.