Description
The hereditary periodic fever syndromes are a group of rare autoinflammatory diseases characterised by recurring or fluctuating systemic inflammation, and which are sometimes complicated by AA amyloidosis. The underlying molecular genetic defects have lately been characterised in several of these syndromes, which has not only contributed to their precise diagnosis, but has also led to the identification of some highly effective therapies, and has elucidated novel pathways that may be involved in inflammation and apoptosis generally. Although the features of familial Mediterranean fever (FMF), tumour necrosis factor receptor associated periodic syndrome (TRAPS), the hyperimmunoglobulin D syndrome (HIDS), the Muckle-Wells syndrome and familial cold autoinflammatory syndrome have superficial similarities, these various conditions can often be distinguished clinically. The aetiology, presentation and management of these particular disorders are summarised.
