Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene

Abstract

Establishing a diagnosis in patients with recurrent episodes of fever is often very difficult ( 1 Knockaert D.C. Vanneste L.J. Bobbaers H.J. Recurrent or episodic fever of unknown origin. Review of 45 cases and survey of the literature. Medicine (Baltimore). 1993; 72: 184-196 PubMed Google Scholar , 2 De Kleijn E.M. Vandenbroucke J.P. Van der Meer J.W. Fever of unknown origin (FUO). I. A prospective multicenter study of 167 patients with FUO, using fixed epidemiologic entry criteria. The Netherlands FUO Study Group. Medicine (Baltimore). 1997; 76: 392-400 Crossref PubMed Scopus (263) Google Scholar ). The episodes of fever and signs of inflammation may lead to a considerable morbidity, and to notable frustration in patients and doctors as extensive diagnostic attempts often fail to reveal the cause. However, after ruling out infectious causes for the febrile attacks, one should consider syndromal causes of periodic fever. At least three separate periodic fever syndromes have been recognized: hyper-immunoglobulin (Ig)D and periodic fever syndrome (HIDS, MIM260920), the tumor necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS, MIM142680), and the best known and most prevalent syndrome, familial Mediterranean fever (FMF, MIM249100). The identification of causative genes for each of them ( 3 McDermott M.F. Aksentijevich I. Galon J. et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999; 97: 133-144 Abstract Full Text Full Text PDF PubMed Scopus (1082) Google Scholar , 4 Drenth J.P. Cuisset L. Grateau G. et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genetics. 1999; 22: 178-181 Crossref PubMed Scopus (472) Google Scholar , 5 Houten S.M. Kuis W. Duran M. et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D, and periodic fever syndrome. Nat Genetics. 1999; 22: 175-177 Crossref PubMed Scopus (421) Google Scholar , 6 International FMF ConsortiumAncient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997; 90: 797-807 Abstract Full Text Full Text PDF PubMed Scopus (1313) Google Scholar , 7 French FMF ConsortiumA candidate gene for familial Mediterranean fever. Nat Genetics. 1997; 17: 25-31 Crossref PubMed Scopus (1256) Google Scholar ) has greatly advanced diagnostic possibilities and has implications for treatment as well.