Author:

Abstract:

Episodic fever in adults represents a major diagnostic challenge and in more than 50% of the cases no underlying causative disease can be identified. Until recently Familial Mediterranean Fever (FMF) was the sole well defined hereditary disease presenting with attacks of fever in addition to a number of other rather typical clinical features. The enormous progress in clinical genetics during the last decade has resulted in a much more simplified definition and diagnosis of hitherto poorly described familial periodic fever syndromes. Many of these cases are diagnosed in adulthood although symptoms exist since childhood which have been interpreted as repeated infectious episodes. In this report we describe a succint overview of the whole array of diseases that may give rise to episodic fever, while focusing on the clinical, genetic and physiopathologic aspects of FMF, hyperimmunoglobulinaemia D syndrome (HIDS), TNF-receptor-associated periodic syndrome (TRAPS, formerly named Familial Hibernian Fever), Muckle-Wells syndrome and the related cold urticaria syndrome.