Síndromes autoinflamatorios - 02/06/08

[14-232] - Doi : 10.1016/S1286-935X(08)52187-3

C. Masson ^⁎ : Praticien hospitalier, B. Bouvard : Praticien contractuel, M. Audran : Professeur, chef du service de rhumatologie, coordonnateur du pôle ostéoarticulaire
Service de rhumatologie, pôle ostéoarticulaire, Centre hospitalier universitaire, 49933 Angers cedex 9, France

Responsable de la correspondencia.

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Articolo archiviato , inizialmente pubblicato nel trattato EMC : Aparato locomotor

Riassunto

Las enfermedades o síndromes autoinflamatorios comprenden la enfermedad periódica o fiebre mediterránea familiar, el síndrome periódico asociado al mevalonato (MAPS), denominado clásicamente síndrome de hiperinmunoglobulinemia D (hiper-IgD), el síndrome periódico asociado al receptor del factor de necrosis tumoral (TRAPS) y sus síndromes relacionados, así como los síndromes periódicos asociados a criopirina (CAPS), entre los que se encuentran la urticaria por frío familiar, el síndrome de Muckle-Wells y la enfermedad inflamatoria multisistémica de inicio neonatal (NOMID), aún denominada síndrome crónico infantil neurológico, cutáneo y articular (CINCA). El objetivo de este artículo es proporcionar una visión global de todas estas entidades, insistiendo en el TRAPS y sus formas relacionadas.

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Palabras Clave : Enfermedad autoinflamatoria, Enfermedad periódica, Síndrome hiper-IgD, TRAPS, CAPS, Síndrome de Muckle-Wells, Urticaria por frío familiar, NOMID, CINCA

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Introducción^{[Kastner D.L., Aksentijevich I. Intermittent and periodic arthritis syndromes Arthritis and allied conditions Philadelphia: Lippincott-Williams and Wilkins (2005).
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, Masson C. Rhumatismes intermittents. EMC (Elsevier Masson SAS, Paris), Appareil locomoteur, 14-210-A-10, 2007.

, Masson C., Simon V., Hoppé E., Insalaco P., Cissé I., Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases Joint Bone Spine 2004 ; 71 : 284-290

, Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

]}

Enfermedad periódica (fiebre mediterránea familiar)^{[Drenth J.P., Van Der Meer J.W. Hereditary periodic fever N. Engl. J. Med. 2001 ; 345 : 1748-1749

, Sarrauste de Menthiere C., Terriere S., Pugnere D., Ruiz M., Demaille J., Touitou I. INFEVERS: the registry for FMF and hereditary inflammatory disorders mutations Nucleic Acids Res. 2003 ; 31 : 282-285

, Touitou I., Lesage S., McDermott M., Cuisset L., Hoffman H., Dode C., e al. Infevers: an evolving mutation database for auto-inflammatory syndromes Hum. Mutat. 2004 ; 24 : 194-198

, Federici L., Rittore-Domingo C., Kone-Paut I., Jorgensen C., Rodiere M., Le Quellec A., e al. A decision tree for genetic diagnosis of hereditary periodic fevers in unselected patients Ann. Rheum. Dis. 2006 ; 65 : 1427-1432

, Pouchot J., Vinceneux P., Grateau G., Mery J.P. Le gène de la maladie périodique (fièvre méditerranéenne) est identifié Rev. Rhum. Mal. Osteoartic. 1998 ; 65 : 237-239

, Samuels J., Aksentijevich I., Torosyan Y., Centola M., Deng Z., Sood R., e al. Familial mediterranean fever at the millenium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health Medicine 1998 ; 77 : 268-297

, Vinceneux P., Pouchot J., Méry J.P. Maladie périodique (fièvre méditerranéenne familiale) Maladies et syndromes systémiques Paris: Médecine-Sciences Flammarion (2000).
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, Korkmaz C., Ozdogan H., Kasapcopur O., Yazici H. Acute phase response in familial Mediterranean fever Ann. Rheum. Dis. 2002 ; 61 : 79-81

, Lidar M., Kedem R., Levartovsky D., Langevitz P., Livneh A. Arthritis as the sole episodic manifestations of familial Mediterranean fever J. Rheumatol. 2005 ; 32 : 859-862

]}

MAPS o síndrome hiper-IgD^{[Frenkel J., Houten S.M., Waterham H.R., Wanders R.J., Rijkers G.T., Kimpen J.L., e al. Mevalonate kinase deficiency and Dutch type periodic fever Clin. Exp. Rheumatol. 2000 ; 18 : 525-532

, Cuisset L., Drenth J.P., Simon A., Vincent M.F., van der Velde Visser S., van der Meer J.W., e al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome Eur. J. Hum. Genet. 2001 ; 9 : 260-266

, Frenkel J., Houten S.M., Waterham H.R., Wanders R.J., Rijkers G.T., Duran M., e al. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatol. 2001 ; 40 : 579-584

, De Dios Garcia-Diaz J., Alvarez-Blanco M.J. Glucocorticoids but not NSAID abort attacks in hyper-IgD and periodic fever syndrome J. Rheumatol. 2001 ; 28 : 925-926

, Simon A., Cuisset L., Vincent M.F., van Der Velde-Visser S.D., Delpech M., van Der Meer J.W., e al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnosis tool Ann. Intern. Med. 2001 ; 135 : 338-343

, Arkwright P.D., McDermott M.F., Houten S.M., Frenkel J., Waterham H.R., Aganna E., e al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept Clin. Exp. Immunol. 2002 ; 130 : 484-488

, Stojanov S., Lohse P., Lohse P., Hoffmann F., Renner E.D., Zellerer S., e al. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome. A low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa Arthritis Rheum. 2004 ; 50 : 1951-1958

]}

TRAPS y síndromes relacionados ()^{[Kastner D.L., Aksentijevich I. Intermittent and periodic arthritis syndromes Arthritis and allied conditions Philadelphia: Lippincott-Williams and Wilkins (2005).
1411-1461

, Masson C., Simon V., Hoppé E., Insalaco P., Cissé I., Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases Joint Bone Spine 2004 ; 71 : 284-290

, Mc Dermott E.M., Smillie D.M., Powell R.J. Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family Mayo Clin. Proc. 1997 ; 72 : 806-817

, Mc Dermott M.F., Aksentijevich I., Galon J., McDermott E.M., Ogunkolade B.W., Centola M., e al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFRSF1A, define a family of dominantly inherited autoinflammatory syndromes Cell 1999 ; 97 : 133-144

, Mc Dermott M. Fièvre récidivantes autosomiques dominantes. Aspects cliniques et génétiques Rev. Rhum. Mal. Osteoartic. 1999 ; 66 : 555-563

, Dode C., Papo T., Fieschi C., Pecheux C., Dion E., Picard F., e al. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family Arthritis Rheum. 2000 ; 43 : 1535-1542 3.0.CO;2-C">[cross-ref]}

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Generalidades

Descripción de las crisis dolorosas del TRAPS^{[Kastner D.L., Aksentijevich I. Intermittent and periodic arthritis syndromes Arthritis and allied conditions Philadelphia: Lippincott-Williams and Wilkins (2005).
1411-1461

, Masson C., Simon V., Hoppé E., Insalaco P., Cissé I., Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases Joint Bone Spine 2004 ; 71 : 284-290

, Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Drenth J.P., Van Der Meer J.W. Hereditary periodic fever N. Engl. J. Med. 2001 ; 345 : 1748-1749

, Aganna E., Hammond L., Hawkins P.N., Aldea A., Mckee S.A., van Amstel H.K., e al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndromes phenotypes Arthritis Rheum. 2003 ; 48 : 2632-2644

]}

Anomalías de laboratorio del TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

]}

Evolución y pronóstico

Patogenia del TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Todd I., Radford P.M., Draper-Morgan K.A., McIntosh R., Bainbridge S., Dickinson P., e al. Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour Immunology 2004 ; 113 : 65-79

, Huggins M.L., Radford P.M., McIntosh R.S., Bainbridge S.E., Dickinson P., Draper-Morgan K.A., e al. Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome. Differences between cell types Arthritis Rheum. 2004 ; 50 : 2651-2659

, Kriegel M.A., Hüffmeier U., Scherb E., Scheidig C., Geiler T., Kalden J.R., e al. Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implication for pathogenesis Arthritis Rheum. 2003 ; 48 : 2386-2388

, Siebert S., Amos N., Fielding C.A., Wang E.C., Aksentijevich I., Williams B.D., e al. Reduced tumor necrosis factor signalling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant Arthritis Rheum. 2005 ; 52 : 1287-1292

]}

Tratamiento de los pacientes con TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Drenth J.P., Van Der Meer J.W. Hereditary periodic fever N. Engl. J. Med. 2001 ; 345 : 1748-1749

, Drewe E., McDermott E.M., Powell P.T., Isaacs J.D., Powell R.J. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients Rheumatol. 2003 ; 42 : 235-239

, Lamprecht P., Moosig F., Adam-Klages S., Mrowietz U., Csemok E., Kirrstetter M., e al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS) Ann. Rheum. Dis. 2004 ; 63 : 1518-1520

, Arostegui J.I., Solis P., Aldea A., Cantero T., Rius J., Bahillo P., e al. Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response Eur. J. Pediatr. 2005 ; 164 : 13-16

, Drewe E., McDermott E.M., Powell R.J. Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome N. Engl. J. Med. 2000 ; 343 : 1044-1045

, Drewe E., Huggins M.L., Morgan A.G., Cassidy M.J., Powell R.J. Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome Rheumatol. 2004 ; 43 : 1405-1408

, Simon A., Bodar E.J., van der Hilst J.C., van der Meer J.W., Fiselier T.J., Cuppen M.P., e al. Beneficial response to interleukin 1 receptor antagonist in TRAPS Am. J. Med. 2004 ; 117 : 208-210

]}

Ampliación del concepto TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Federici L., Rittore-Domingo C., Kone-Paut I., Jorgensen C., Rodiere M., Le Quellec A., e al. A decision tree for genetic diagnosis of hereditary periodic fevers in unselected patients Ann. Rheum. Dis. 2006 ; 65 : 1427-1432

, Dode C., Andre M., Bienvenu T., Hausfater P., Pecheux C., Bienvenu C.J., e al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome Arthritis Rheum. 2002 ; 46 : 2181-2188

, Aksentijevich I., Gallon J., Soares M., Mansfield E., Hull K., Oh H.H., e al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further heterogeneity of periodic fevers Am. J. Hum. Genet. 2001 ; 69 : 301-314

, Hull K.M., Kastner D.L. Reply Arthritis Rheum. 2003 ; 48 : 1769-1770

, Drewe E., Lanyon P.C., Powell R.J. Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome: comment on the articles by Hull, et al and Dodé, et al Arthritis Rheum. 2003 ; 48 : 1768-1769

, Trost S., Rosé C.D. Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome J. Rheumatol. 2005 ; 32 : 175-177

, Saulsbury F.T., Wispelwey B. Tumor necrosis factor receptor-associated periodic syndrome in a young adult who had features of periodic fever, aphthous stomatitis, pharyngitis, and adenitis as a child J. Pediatr. 2005 ; 146 : 283-285

, Ravet N., Rouaghe S., Dode C., Bienvenu J., Stirnemann J., Levy P., e al. Clinical significance of P46L and R92Q substitutions in the Tumor Necrosis Factor Superfamiliy 1A gene Ann. Rheum. Dis. 2006 ; 65 : 1158-1162

]}

Criopirinopatías o síndrome periódico asociado a criopirina^{[Aksentijevich I., Nowak M., Mallah M., Chae J.J., Watford W.J., Hofmann S.R., e al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases Arthritis Rheum. 2002 ; 46 : 3340-3348

, Cuisset L., Drenth J.P., Berthelot J.M., Meyrier A., Vaudour G., Watts R.A., e al. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44 Am. J. Hum. Genet. 1999 ; 65 : 1054-1059

, Hentgen V., Despert V., Lepretre A.C., Cuisset L., Chevrant-Breton J., Jego P., e al. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome J. Rheumatol. 2005 ; 32 : 747-751

, Hoffman H.M., Wright F.A., Broide D.H., Wanderer A.A., Kolodner R.D. Identification of a locus on chromosome 1q44 for familial cold urticaria Am. J. Hum. Genet. 2000 ; 65 : 1693-1698

, Hoffman H.M., Mueller J.L., Broide D.H., Wanderer A.A., Kolodner R.D. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome Nat. Genet. 2001 ; 29 : 301-305

, Hoffman H.M., Wanderer A.A., Broide D.H. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever J. Allergy Clin. Immunol. 2001 ; 108 : 615-620

, Hoffman H.M., Rosengren S., Boyle D.L., Cho J.Y., Nayar J., Mueller J.L., e al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist Lancet 2004 ; 364 : 1779-1785

, Stack J.H., Beaumont K., Larsen P.D., Straley K.S., Henkel G.W., Randle J.C., e al. IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients J. Immunol. 2005 ; 175 : 2630-2634

, Metyas S.K., Hoffman H.M. Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease J. Rheumatol. 2006 ; 33 : 2085-2087

, Lequerre T., Vittecoq O., Saugier-Veber P., Goldenberg A., Patoz P., Frebourg T., e al. A cryopyrin-associated periodic syndrome with joint destruction Rheumatol. 2007 ; 46 : 709-714

]}

Urticaria por frío familiar

Síndrome de Muckle-Wells

NOMID o CINCA

Implicación del inflamasoma en las criopirinopatías^{[Drenth J.P., van der Meer J.W. The inflammasome- A linebacker of innate defense N. Engl. J. Med. 2006 ; 355 : 730-732

, Simon A., van der Meer J.W. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes Am. J. Physiol. Regul. Integr. Comp. Physiol. 2007 ; 292 : R86-R98

, Martinon F., Petrilli V., Mayor A., Tardivel A., Tschopp J. Gout-associated uric acid crystal activate the NALP3 inflammasome Nature 2006 ; 440 : 237-241

]}

Conclusión

Esportazione

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Calidad de vida en reumatología
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