Rheumatology Advance Access originally published online on February 24, 2004
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Rheumatology 2004; 43: 410-415
Rheumatology Vol. 43 No. 4 (c) British Society for Rheumatology 2004; all rights reserved
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Clinical and genetic aspects of the hereditary periodic fever syndromes
Service de médecine interne, L’Hôtel-Dieu, Assistance publique-hôpitaux de Paris, 1 place du parvis Notre-Dame, 75181 Paris cedex 04 and Laboratoire de Génétique et physiopathologie des maladies inflammatoires et musculaires, INSERM U567, Institut Cochin, Paris, France.
Correspondence to: G. Grateau, Service de médecine interne, L'Hôtel-Dieu, Assistance publique-hôpitaux de Paris, 1 place du parvis Notre-Dame, 75181 Paris cedex 04, France. E-mail: gilles.grateau{at}htd.ap-hop-paris.fr
Hereditary periodic fever syndromes are a group of diseases characterized by intermittent bouts of clinical inflammation with focal organ involvement, mainly of the abdomen, musculoskeletal system and skin. The most frequent is familial Mediterranean fever, which affects patients of Mediterranean descent all over the world. Three other types have recently been characterized clinically and genetically. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases. The underlying mechanisms of these inflammatory diseases appear to be specific for each type, involving so far unknown proteins, and have already opened new avenues in our understanding of the inflammatory response.
KEY WORDS: Amyloidosis, Tumour necrosis factor (TNF), TNF inhibitors, Hereditary fever, Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), Muckle–Wells syndrome, Familial cold urticaria (FCU), Familial cold autoinflammatory syndrome (FCAS), Chronic infantile neurological cutaneous and articular (CINCA) syndrome.
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