Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases
Table 5
Clinical criteria for the diagnosis of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults; adapted from Thomas et al. [145] and Cantarini et al. [146], respectively. Infections, malignancies, autoimmune and other autoinflammatory diseases should be ruled out before the application of criteria in adult patients.
Diagnostic criteria for children
Diagnostic criteria for adults
(1) Regularly recurring fevers with early age of onset (<5 years of age), occurring in the absence of upper respiratory tract infections (2) At least one among the following symptoms: (i) Aphthous stomatitis (ii) Cervical lymphadenitis (iii) Pharyngitis (3) Exclusion of cyclic neutropenia (4) Asymptomatic interval between episodes (5) Normal growth and development
(1) Recurrent fever accompanied by (i) Erythematous pharyngitis and/or (ii) Cervical lymphadenitis (2) Increased inflammatory markers during febrile attacks (3) Asymptomatic interval between episodes
