[From hereditary recurrent fevers to autoinflammatory syndromes: the contribution of genetics].
Hereditary recurrent fevers are rare genetic diseases characterized by febrile periods of variable duration. Classically, four such diseases were recognized, namely familial Mediterranean fever (previously called periodic disease in France), the Muckle-Wells syndrome, Hibernian fever, and hyper IgD with recurrent fever. The discovery of culprit genes has led to an overhaul of this classification. Molecular diagnosis of these diseases, that are difficult to identify on clinical grounds alone, is now possible. Timely diagnosis is particularly important as, in the absence of treatment, there is a risk of secondary AA amyloidosis, which is fatal within 5 to 10 years. The discovery of underlying genetic mechanisms has also led to the development of new therapeutic approaches, which are currently being tested in clinical trials.
Delpech
Marc
M
Laboratoire de biochimie et génétique moléculaire, APHP Hôpital Cochin, 123 bd de Port Royal, 75014 Paris. marc.delpech@inserm.fr
D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans