Periodic fevers enter the era of molecular diagnosis

Abstract

Periodic fever syndromes are a group of disorders characterised by attacks of fever separated by symptom free intervals. So far four types, all inherited, have been described. Familial Mediterranean fever and hyper-IgD and periodic fever syndrome (hyper-IgD syndrome) are transmitted as autosomal recessive traits while familial Hibernian fever and Muckle-Wells syndrome are autosomal dominant periodic fevers. Over the past decade the gene for Muckle-Wells syndrome has been localised and those for the other three disorders identified. This work has resulted in better means of diagnosing these rare conditions and has also thrown new light on the molecular basis of inflammation. Familial Mediterranean fever is the commonest periodic fever disorder, occurring mainly in people originating from the Mediterranean basin.1 In Israel alone over 5000 people are estimated to suffer from this disorder. Attacks start before the age of 20 and are characterised by short (1-4 days) attacks of fever and serositis. Most patients have recurrent peritonitis, but pleuritis also occurs. Asymmetric monoarthritis of the large joints is common, while an erysipelas-like rash develops less often. Familial Mediterranean fever can be complicated by nephropathic amyloidosis of the AA type, but in most patients colchicine up …