Abstract
Fever belongs to the main disease manifestations in childhood. It is mainly a feature of infections, but also of a variety of inflammatory and neoplastic disorders.
Differential diagnosis of protracted or recurrent fever is often challenging. It is based on the meticulous directed history, evaluation of clinical and laboratory findings during the fever episode as well as at afebrile interval.
Periodic fever syndromes are clinical entities within the broad spectrum of autoinflammatory disorders. They are characterised by disruption of innate immune mechanisms.
Recurrent fever episodes are accompanied with localised inflammatory manifestations. In majority they are connected with mutations of genes involved in the regulation of inflammatory processes.
According to the type of Mendelian inheritance they can be divided into autosomal dominant: cryopyrin-associated periodic syndromes and TNF-receptor associated periodic syndrome, and autosomal recessive: familiar Mediterranian fever and mevalonatekinase-associated periodic syndrome. PFAPA syndrome (Periodic Fever, Aphtae, Pharyngitis, Adenitis) is a periodic syndrome without identifiable genetic cause.
Periodic fever patients are treated according to the severity of their individual phenotype and risk factors associated with the mutations involved.