PFAPA: a single phenotype with genetic heterogeneity

Methods PFAPA patients were prospectively recruited. All patients had genetic testing to exclude mutations in the known fever genes (MVK, MEFV, TNFRSF1A, NLRP3, and ELA2). These PFAPA patients have been classified as sporadic or familial cases based on family history. Familial cases included those with a family member having PFAPA or a family member having a feature of PFAPA (recurrent fever, oral ulcer, pharyngitis, or lymphadenopathy). The demographics, symptoms, response to therapies, and clinical characteristics were compared for sporadic and familial cases. Detailed histories were obtained from families with multiple members affected by PFAPA.