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Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2010

Open Access 01-12-2010 | Review

Autoinflammatory syndromes: diagnosis and management

Authors: Sara De Sanctis, Manuela Nozzi, Marianna Del Torto, Alessandra Scardapane, Stefania Gaspari, Giuseppina de Michele, Luciana Breda, Francesco Chiarelli

Published in: Italian Journal of Pediatrics | Issue 1/2010

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Abstract

During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis and treatment of these diseases.
Literature
1.
Simon A, van der Meer JWM: Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 2007, 292: 86-98.CrossRef
2.
Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A: Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol. 2008, 28: 73-83. 10.1007/s10875-008-9178-3.CrossRef
3.
Bodar EJ, Drenth JPH, van der Meer JSM, Simon A: Dysregulation of innate immunity: hereditay periodic fever syndromes. Br J Haematol. 2009, 144: 279-302. 10.1111/j.1365-2141.2008.07036.x.PubMedCrossRef
4.
Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Koné-Paut I, Baldi M, Ceccherini I, Martni A: A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008, 58: 1823-1832. 10.1002/art.23474.PubMedCrossRef
5.
Pinto A, Lindemeyer RG, Sollecito TP: The PFAPA syndrome in oral medicine: differential diagnosis and treatment. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006, 102: 35-39. 10.1016/j.tripleo.2005.12.023.PubMedCrossRef
6.
7.
El-Shanti H, Majeed HA, El-Khateeb M: Familial mediterranean fever in Arabs. Lancet. 2006, 367: 1016-1024. 10.1016/S0140-6736(06)68430-4.PubMedCrossRef
8.
Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoam N, Aganna E, Hugot j-P, Wise C, Watwrham H, Pugnere D, Demaille J, Sarraustre de Menthiere C: Infevers: an evolving mutation database for auto-inflammatory syndromes. Human Mutat. 2004, 24: 194-198. 10.1002/humu.20080.CrossRef
9.
Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Ozen S, Topaloglu R, Yilmaz E, Arici M, Bakkaloglu A, Besbas N, Akpolat T, Dinc A, Erken E, Turkish FMF Study Group: Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005, 84: 1-11. 10.1097/01.md.0000152370.84628.0c.CrossRef
10.
Bhat A, Naguwa SM, Gershwin ME: Genetics and new treatment modalities for familial mediterranean fever. Ann NY Acad Sci. 2007, 1110: 201-208. 10.1196/annals.1423.022.PubMedCrossRef
11.
Cassidy JT, Petty RE, Laxer RM, Lindsley CB: Periodic fever syndromes in children. Textbook of Pediatric Rheumatology. 2005, Elsevier Saunders. Philadelphia, 5
12.
Bakkaloglu A: Familial mediterranean fever. Pediatr Nephrol. 2003, 18: 853-859. 10.1007/s00467-003-1185-2.PubMedCrossRef
13.
Stojanov S, Kastner DL: Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005, 17: 586-599. 10.1097/bor.0000174210.78449.6b.PubMedCrossRef
14.
Scolozzi R, Boccafogli A, Vicentini L: Hyper-IgD syndrome and hereditary periodic fever syndromes. Reumatismo. 2004, 56: 147-155.PubMed
15.
Sornsakrin M, Wenner K, Ganschow R: B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome. Eur J Pediatr. 2008, 168: 825-831. 10.1007/s00431-008-0843-6.PubMedCrossRef
16.
Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999, 22: 175-157. 10.1038/9691.PubMedCrossRef
17.
Hoffman GF, Charpentier C, Mayatepec E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K: Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993, 91: 915-921.
18.
Kwak B, Mulhaupt F, Myit S, Mach F: Statins as a newly recognized type of immunomodulator. Nat Med. 2000, 6: 1399-1402. 10.1038/82219.PubMedCrossRef
19.
Frenkel J, Houten SM, Waterham HR, Wanders RJA, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W: Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology. 2001, 40: 579-584. 10.1093/rheumatology/40.5.579.PubMedCrossRef
20.
D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I: MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet. 2005, 13: 314-320. 10.1038/sj.ejhg.5201323.PubMedCrossRef
21.
Simon A, Cuisset L, Vincent MF, van der Velde-Visser SD, Delpech M, van der Meer JW, Drenth JP: Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med. 2001, 135: 338-343.PubMedCrossRef
22.
Drenth JP, Haagsma CJ, Van der Meer JW: Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine. 1994, 73: 133-144. 10.1097/00005792-199405000-00002.PubMedCrossRef
23.
Simon A, Drewe E, van der Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, Drenth JP: Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther. 2004, 75: 476-483. 10.1016/j.clpt.2004.01.012.PubMedCrossRef
24.
Hung JJ, Huang LJ: Etanercept therapy in children with juvenile rheumatoid arthritis. J Microbiol Immunol Infect. 2005, 38: 444-446.PubMed
25.
Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, Hammond LJ, Mirakian RM, Tomlin PI, Vijaydurai PI, Cant AJ: Hyer 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. 10.1046/j.1365-2249.2002.02002.x.PubMedCentralPubMedCrossRef
26.
Marchetti F, Barbi E, Tommasini A, Oretti C, Ventura A: Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever. Clin Exp Rheumatol. 2004, 22: 791-792.PubMed
27.
Bodar EJ, van der Hilst JC, Drenth JP, van der Meer JW, Simon A: Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med. 2005, 63: 260-264.PubMed
28.
Cailliez M, Garaix F, Rousset-Rouvière C, Bruno D, Kone-Paut I, Sarles J, Chabrol B, Tsimaratos M: Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome- associated febrile crisis. J Inherit Metab Dis. 2006, 29: 763-10.1007/s10545-006-0408-7.PubMedCrossRef
29.
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL: Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999, 97: 133-144. 10.1016/S0092-8674(00)80721-7.PubMedCrossRef
30.
D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, Pontillo A, Corona F, Barcellona R, Di Duca M, Santamaria G, Traverso F, Picco P, Baldi M, Plebani A, Ravazzolo R, Ceccherini I, Martini A, Gattorno M: Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. Arthritis Rheum. 2006, 54: 998-1008. 10.1002/art.21657.PubMedCrossRef
31.
Stankovic K, Grateau G: Auto inflammatory syndromes: diagnosis and treatment. Joint Bone Spine. 2007, 74: 544-550. 10.1016/j.jbspin.2007.07.005.PubMedCrossRef
32.
Yao Q, Furst DE: Autoinflammatory diseases: an update of clinical and genetic aspects. Rheumatology. 2008, 47: 946-951. 10.1093/rheumatology/ken118.PubMedCrossRef
33.
Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL: The TNF receptor-associated periodic syndrome (TRAPS); emerging concepts of an autoinflammatory disorder. Medicine. 2002, 81: 349-368. 10.1097/00005792-200209000-00002.PubMedCrossRef
34.
Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castañer JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yagüe J, Mirakian RM, Hitman GA, McDermott MF: Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum. 2003, 48: 2632-2644. 10.1002/art.11215.PubMedCrossRef
35.
D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, Pontillo A, Corona F, Barcellona R, Di Duca M, Santamaria G, Traverso F, Picco P, Baldi M, Plebani A, Ravazzolo R, Ceccherini I, Martini A, Gattorno M: Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. Arthritis Rheum. 2006, 54: 998-1008. 10.1002/art.21657.PubMedCrossRef
36.
Aróstegui JI, Solís P, Aldea A, Cantero T, Rius J, Bahíllo P, Plaza S, Vives J, Gómez S, Yagüe J: Etanercept plus colchicine treatment in a child with tumor necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. Eur J Pediatr. 2005, 164: 13-16. 10.1007/s00431-004-1563-1.PubMedCrossRef
37.
Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ: 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 tumor necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology. 2003, 42: 235-239. 10.1093/rheumatology/keg070.PubMedCrossRef
38.
Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, Buoncompagni A, Plebani A, Merlini G, Martini A: Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008, 58: 1516-1520. 10.1002/art.23475.PubMedCrossRef
39.
McDermott MF: A common pathway in periodic fever syndromes. Trends Immunol. 2004, 25: 457-460. 10.1016/j.it.2004.07.007.PubMedCrossRef
40.
McDermott MF, Tschopp J: From inflammasomes to fevers, crystals and hypertension: how basic research explains inflammatory diseases. Trends Mol Med. 2007, 13: 381-388. 10.1016/j.molmed.2007.07.005.PubMedCrossRef
41.
Goldbach-Mansky R, Kastner DL: Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. J Allergy Clin Immunol. 2009, 124: 1141-1149. 10.1016/j.jaci.2009.11.016.PubMedCentralPubMedCrossRef
42.
Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, Pinto G, Pagnier A, Bodemer C, Bodaghi B, Tardieu M, Prieur AM, Quartier P: Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010, 62: 258-267. 10.1002/art.25057.PubMedCrossRef
43.
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL: Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006, 355: 581-592. 10.1056/NEJMoa055137.PubMedCentralPubMedCrossRef
44.
Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, Kavanaugh A, Weinstein SP, Belomestnov P, Yancopoulos GD, Stahl N, Mellis SJ: Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes. Results from two sequential placebo-controlled studies. Arthritis Rheum. 2008, 58: 2443-2452. 10.1002/art.23687.PubMedCrossRef
45.
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN: Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009, 360: 2416-2425. 10.1056/NEJMoa0810787.PubMedCrossRef
46.
Tallon B, Corkill M: Peculiarities of PAPA syndrome. Rheumatology. 2006, 45: 1140-1143. 10.1093/rheumatology/kei178.PubMedCrossRef
47.
Scully C, Hodgson T, Lachmann H: Auto-inflammatory syndromes and oral health. Oral diseases. 2008, 14: 690-699. 10.1111/j.1601-0825.2008.01484.x.PubMedCrossRef
48.
Miettunen PM, Wei X, Kaura D, Reslan WA, Aguirre AN, Kellner JD: Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J. 2009, 7: 2-10.1186/1546-0096-7-2.PubMedCentralPubMedCrossRef
49.
Femiano F, Lanza A, Buonaiuto C, Gombos F, Cirillo N: Oral aphthous-like lesions, PFAPA syndrome: a review. J Oral Pathol Med. 2008, 37: 319-323. 10.1111/j.1600-0714.2008.00634.x.PubMedCrossRef
50.
Lierl M: Periodic fever syndromes: a diagnostic challenge for the allergist. Allergy. 2007, 62: 1349-1358. 10.1111/j.1398-9995.2007.01534.x.PubMedCrossRef
51.
Pillet P, Ansoborlo S, Carrere A, Perel Y, Guillard JM: (P)FAPA syndrome: value of cimetidine. Arch Pediatr. 2000, 7: 54-57. 10.1016/S0929-693X(00)88918-6.PubMedCrossRef
52.
Feder HM: Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis. Pediatr Infect Dis J. 1992, 11: 318-321. 10.1097/00006454-199204000-00011.PubMedCrossRef
53.
Licameli G, Jeffrey J, Luz J, Jones D, Kenna M: Effect of adenotonsillectomy in PFAPA syndrome. Arch Otolaryngol Nead Neck Surg. 2008, 134: 136-140. 10.1001/archoto.2007.7.CrossRef
54.
Galanakis E, Papadakis CE, Giannoussi E, Karatzanis AD, Bitsori M, Helidonis ES: PFAPA syndrome in children evaluated for tonsillectomy. Arch Dis Child. 2002, 86: 434-435. 10.1136/adc.86.6.434.PubMedCentralPubMedCrossRef
Metadata
Title
Autoinflammatory syndromes: diagnosis and management
Authors
Sara De Sanctis
Manuela Nozzi
Marianna Del Torto
Alessandra Scardapane
Stefania Gaspari
Giuseppina de Michele
Luciana Breda
Francesco Chiarelli
Publication date
01-12-2010
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2010
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/1824-7288-36-57

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