[Hereditary periodic fever].
Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D periodic fever syndrome (HIDS), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are hereditary periodic fever syndromes. FMF is caused by mutations in the Mediterranean fever gene, HIDS by mutations in the mevalonat-kinase gene, and TRAPS by mutations in the TNF-receptor superfamily 1A gene. Impaired function of the encoded proteins, i.e. pyrin in FMF, mevalonat-kinase in HIDS, and the p55 TNF-receptor in TRAPS, induces a dysregulated cytokine balance. Clinical manifestations are relapsing fever, serositis, arthralgia, myalgia, and miscellaneous forms of rash. The diagnosis is made through moleculargenetic analysis of mutations of the MEFV-gene (FMF), MVK-gene (HIDS), or TNFRSF1A-gene (TRAPS). Colchicine is the therapy of choice in FMF. HIDS is treated symptomatically. Impaired TNF-alpha regulation in TRAPS can be treated with etanercept.
Lamprecht
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P
Rheumaklinik Bad Bramstedt, Poliklinik für Rheumatologie, Universitätsklinikum Schleswig-Holstein, Campus Lübeck. lamprecht@rheuma-zentrum.de
Timmann
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C
Ahmadi-Simab
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K
Gross
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WL
D016207:Cytokines / Q000097:blood; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D006942:Hypergammaglobulinemia / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D007072:Immunoglobulin D / Q000097:blood*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D011506:Proteins / Q000235:genetics; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*
D016207:Cytokines; D003598:Cytoskeletal Proteins; D007072:Immunoglobulin D; D011506:Proteins; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase