Recommendations for the management of autoinflammatory diseases

Annals of the Rheumatic Diseases

Volumn 74, Issue 9, 2015, Pages 1636-1644

  Ter Haar, Nienke M ^a   Oswald, Marlen ^b   Jeyaratnam, Jerold ^a   Anton, Jordi ^c   Barron, Karyl S ^d   Brogan, Paul A ^e   Cantarini, Luca ^f   Galeotti, Caroline ^g   Grateau, Gilles ^h   Hentgen, Veronique ⁱ   Hofer, Michael ^j   Kallinich, Tilmann ^k   Kone Paut, Isabelle ^g   Lachmann, Helen J ^l   Ozdogan, Huri ^m   Ozen, Seza ⁿ   Russo, Ricardo ^o   Simon, Anna ^p   Uziel, Yosef ^q   Wouters, Carine ^r   Feldman, Brian M ^s   Vastert, Sebastiaan J ^a   Wulffraat, Nico M ^a   Benseler, Susanne M ^t   Frenkel, Joost ^a   Gattorno, Marco ^u   Kuemmerle Deschner, Jasmin B ^b   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITY OF BARCELONA   (Spain)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF SIENA   (Italy)

^g BICÊTRE HOSPITAL   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ CENTRE HOSPITALIER DE VERSAILLES   (France)

^j UNIVERSITY OF LAUSANNE   (Switzerland)

^k CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m ISTANBUL UNIVERSITY   (Turkey)

ⁿ HACETTEPE UNIVERSITY   (Turkey)

^o HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^p RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^q TEL AVIV UNIVERSITY   (Israel)

^r UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^s HOSPITAL FOR SICK CHILDREN   (Canada)

^t UNIVERSITY OF CALGARY   (Canada)

^u G GASLINI INSTITUTE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CANAKINUMAB; ETANERCEPT; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RILONACEPT;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; AUTOINFLAMMATORY DISEASES ACTIVITY INDEX; BIOLOGICAL THERAPY; CINCA SYNDROME; DISEASE ACTIVITY SCORE; DISEASE SEVERITY; DRUG EFFICACY; DRUG TREATMENT FAILURE; EARLY DIAGNOSIS; HUMAN; MAINTENANCE THERAPY; MEVALONATE KINASE DEFICIENCY; MUCKLE WELLS SYNDROME DISEASE ACTIVITY SCORE; PATIENT MONITORING; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEINURIA; RANDOMIZED CONTROLLED TRIAL (TOPIC); REMISSION; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; CONSENSUS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; HEREDITARY AUTOINFLAMMATORY DISEASES;

CONSENSUS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; MEVALONATE KINASE DEFICIENCY; PRACTICE GUIDELINES AS TOPIC;

EID: 84942080292     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2015-207546     Document Type: Article

References (87)

1. Wulffraat NM, Vastert B, SHARE consortium. Time to share. Pediatr Rheumatol Online J 2013;11:5.
2. Aksentijevich I, D Putnam C, Remmers EF, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56:1273-85.
3. Neven B, Prieur AM, Quartier dit Maire P. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol 2008;4:481-9.
4. Levy R, Gerard L, Kuemmerle-Deschner J, et al. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis 2014. Published Online First: 18 Jul 2014. doi:10.1136/annrheumdis-2013-204991
5. Lachmann HJ, Papa R, Gerhold K, et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis 2014;73:2160-7.
6. van der Burgh R, Ter Haar NM, Boes ML, et al. Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clin Immunol 2013;147:197-206.
7. van der Hilst Jeroen CH, Bodar EJ, Barron KS, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine 2008;87:301-10.
8. Hoffmann GF, Charpentier C, Mayatepek E, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993;91(5 I):915-21.
9. Dougados M, Betteridge N, Burmester GR, et al. EULAR standardised operating procedures for the elaboration, evaluation, dissemination, and implementation of recommendations endorsed by the EULAR standing committees. Ann Rheum Dis 2004;63:1172-6.
10. van der Heijde D, Aletaha D, Carmona L, et al. 2014 Update of the EULAR standardised operating procedures for EULAR-endorsed recommendations. Ann Rheum Dis 2015;74:8-13.
11. Whiting P, Rutjes AW, Dinnes J, et al. Development and validation of methods for assessing the quality of diagnostic accuracy studies. Health Technol Assess 2004;8:iii, 1-234.
12. Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0. The Cochrane Collaboration. http://www.cochrane-handbook.org(accessed Jul 2013).
13. Laupacis A, Wells G, Richardson WS, et al. Users' guides to the medical literature. V. How to use an article about prognosis. Evidence-Based Medicine Working Group. JAMA 1994;272:234-7.
14. Zhang W, Doherty M, Pascual E, et al. EULAR evidence based recommendations for gout. Part I: Diagnosis. Report of a task force of the Standing Committee for International Clinical Studies Including Therapeutics (ESCISIT). Ann Rheum Dis 2006;65:1301-11.
15. "The Oxford Levels of Evidence 1." http://www.cebm.net/index.aspx?o=1025(accessed Jul 2014).
16. Harvey N, Holmes CA. Nominal group technique: an effective method for obtaining group consensus. Int J Nurs Pract 2012;18:188-94.
17. Prieur A-M, Griscelli C, Lampert F, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl 1987;66(Suppl 66):57-68.
18. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001;108:615-20.
19. Arostegui JI, Aldea A, Modesto C, et al. Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. Arthritis Rheum 2004;50:4045-50.
20. Caroli F, Pontillo A, D'Osualdo A, et al. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology 2007;46:473-8.
21. Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, et al. Hearing loss in Muckle-Wells syndrome. Arthritis Rheum 2013;65:824-31.
22. Hull KM, Drewe E, Aksentijevich I, et al. The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder. Medicine 2002;81:349-68.
23. Ravet N, Rouaghe S, Dode C, et al. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis 2006;65:1158-62.
24. Lainka E, Neudorf U, Lohse P, et al. Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. Rheumatology 2009;48:987-91.
25. Pelagatti MA, Meini A, Caorsi R, et al. Long-term clinical Profile of children with the low-penetrance R92Q mutation of the tNFRSF1A gene. Arthritis Rheum 2011;63:1141-50.
26. Bader-Meunier B, Florkin B, Sibilia J, et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 2011;128:e152-9.
27. Shinar Y, Obici L, Aksentijevich I, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012;71:1599-605.
28. Dwamena F, Holmes-Rovner M, Gaulden CM, et al. Interventions for providers to promote a patient-centred approach in clinical consultations. Cochrane Database Syst Rev 2012;12:CD003267.
29. Stych B, Dobrovolny D. Familial cold auto-inflammatory syndrome (FCAS): Characterization of symptomatology and impact on patients' lives. Curr Med Res Opin 2008;24:1577-82.
30. Koitschev A, Gramlich K, Hansmann S, et al. Progressive familial hearing loss in Muckle-Wells syndrome. Acta Otolaryngol 2012;132:756-62.
31. Sibley CH, Plass N, Snow J, et al. Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. Arthritis Rheum 2012;64:2375-86.
32. Kone-Paut I, Lachmann HJ, Kuemmerle-Deschner JB, et al Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: Results of a double-blind placebo-controlled randomized withdrawal study. Arthritis Res Ther 2011;13:R202.
33. Lepore L, Paloni G, Caorsi R, et al. Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra. J Pediatr 2010;157:310-315.e1.
34. Toplak N, Frenkel J, Ozen S, et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis 2012;71:1177-82.
35. Gattorno M, Sormani MP, D'Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008;58:1823-32.
36. Federici S, Sormani MP, Ozen S, et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 2015;74:799-805.
37. European public assessment reports. http://www.ema.europa.eu/ema/index.jsp(accessed Jun 2015).
38. FDA Approval labels. http://www.accessdata.fda.gov/scripts/cder/drugsatfda/index.cfm(accessed Jun 2015).
39. Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1(beta) inhibition. N Engl J Med 2006;355:581-92.
40. Wittkowski H, Kuemmerle-Deschner JB, Austermann J, et al. MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes. Ann Rheum Dis 2011;70:2075-81.
41. Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, et al. Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum 2011;63:840-9.
42. Kuemmerle-Deschner JB, Wittkowski H, Tyrrell PN, et al. Treatment of Muckle-Wells syndrome: Analysis of two IL-1-blocking regimens. Arthritis Res Ther 2013;15:R64.
43. Ross JB, Finlayson LA, Klotz PJ, et al. Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. J Cutan Med Surg 2008;12:8-16.
44. Urien S, Bardin C, Bader-Meunier B, et al. Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes. BMC Pharmacol Toxicol 2013;14:40.
45. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med 2009;360:2416-25.
46. Kuemmerle-Deschner JB, Ramos E, Blank N, et al. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1beta mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS). Arthritis Res Ther 2011;13:R34.
47. Kuemmerle-Deschner JB, Hachulla E, Cartwright R, et al. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis 2011;70:2095-102.
48. Hoffman HM, Throne ML, Amar NJ, et al. 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;58:2443-52.
49. Hoffman HM, Throne ML, Amar NJ, et al. Long-Term Efficacy and Safety Profile of Rilonacept in the Treatment of Cryopryin-Associated Periodic Syndromes: results of a 72-Week Open-Label Extension Study. Clin Ther 2012;34:2091-103.
50. ter Haar NM, Lachmann H, Ozen S, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2013;72(5):678-85.
51. Neven B, Marvillet I, Terrada C, et al. 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;62:258-67.
52. Williamson LM, Hull D, Mehta R. Familial hibernian fever. Q J Med 1982;51:469-80.
53. McDermott EM, Smillie DM, Powell RJ, et al. Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 1997;72:806-17.
54. Stojanov S, Dejaco C, Lohse P, et al. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept. Ann Rheum Dis 2008;67:1292-8.
55. Bulua AC, Mogul DB, Aksentijevich I, et al. Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. Arthritis Rheum 2012;64:908-13.
56. Drewe E, McDermott EM, Powell PT, et al. 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. Rheumatology 2003;42:235-9.
57. Drewe E, Powell RJ, Mcdermott EM. Comment on: Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS). Rheumatology 2007;46:1865-6.
58. Lane T, Loeffler JM, Rowczenio DM, et al. AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum 2013;65:1116-21.
59. Gattorno M, Pelagatti MA, Meini A, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2008;58:1516-20.
60. Quillinan N, Mannion G, Mohammad A, et al. Failure of sustained response to etanercept and refractoriness to anakinra in patients with T50M TNF-receptor-associated periodic syndrome. Ann Rheum Dis 2011;70:1692-3.
61. Hoes JN, Jacobs JW, Boers M, et al. EULAR evidence-based recommendations on the management of systemic glucocorticoid therapy in rheumatic diseases. Ann Rheum Dis 2007;66:1560-7.
62. van der Goes MC, Jacobs JW, Boers M, et al. Monitoring adverse events of low-dose glucocorticoid therapy: EULAR recommendations for clinical trials and daily practice. Ann Rheum Dis 2010;69:1913-9.
63. Duru N, van der Goes MC, Jacobs JW, et al. EULAR evidence-based and consensus-based recommendations on the management of medium to high-dose glucocorticoid therapy in rheumatic diseases. Ann Rheum Dis 2013;72:1905-13.
64. Smolen JS, Landewe R, Breedveld FC, et al. EULAR recommendations for the management of rheumatoid arthritis with synthetic and biological disease-modifying antirheumatic drugs: 2013 update. Ann Rheum Dis 2014;73:492-509.
65. Bodar EJ, Kuijk LM, Drenth JPH, et al. On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis 2011;70:2155-8.
66. Galeotti C, Meinzer U, Quartier P, et al. Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency. Rheumatology (United Kingdom) 2012;51(1462-0332 (Electronic)):1855-9.
67. Arkwright PD, Abinun M, Cant AJ. Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med 2007;357:1350.
68. Neven B, Valayannopoulos V, Quartier P, et al. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med 2007;356:2700-3.
69. Chaudhury S, Hormaza L, Mohammad S, et al. Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria. Am J Transplant 2012;12:1627-31.
70. Piram M, Frenkel J, Gattorno M, et al. A preliminary score for the assessment of disease activity in hereditary recurrent fevers: Results from the AIDAI (Auto-Inflammatory Diseases Activity Index) consensus conference. Ann Rheum Dis 2011;70:309-14.
71. Piram M, Koné-Paut I, Lachmann HJ, et al. Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes. Ann Rheum Dis 2014;73:1-6.
72. Kummerle-Deschner JB, Tyrrell PN, Reess F, et al. Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum 2010;62:3783-91.
73. Singh JA, Wells GA, Christensen R, et al. Adverse effects of biologics: a network meta-analysis and Cochrane overview. Cochrane Database Syst Rev 2011;(2): CD008794.
74. Heijstek MW, Ott de Bruin LM, Bijl M, et al. EULAR recommendations for vaccination in paediatric patients with rheumatic diseases. Ann Rheum Dis 2011;70:1704-12.
75. van Assen S, Agmon-Levin N, Elkayam O, et al. EULAR recommendations for vaccination in adult patients with autoimmune inflammatory rheumatic diseases. Ann Rheum Dis 2011;70:414-22.
76. Heijstek MW, Kamphuis S, Armbrust W, et al Effects of the live attenuated measles-mumps-rubella booster vaccination on disease activity in patients with juvenile idiopathic arthritis: a randomized trial. JAMA 2013;309:2449-56.
77. Borte S, Liebert UG, Borte M, et al. Efficacy of measles, mumps and rubella revaccination in children with juvenile idiopathic arthritis treated with methotrexate and etanercept. Rheumatology (Oxford) 2009;48:144-8.
78. Scheinberg M, Guedes-Barbosa LS, Mangueira C, et al. Yellow fever revaccination during infliximab therapy. Arthritis Care Res (Hoboken) 2010;62:896-8.
79. Chioato A, Noseda E, Felix SD, et al. Influenza and meningococcal vaccinations are effective in healthy subjects treated with the interleukin-1 beta-blocking antibody canakinumab: results of an open-label, parallel group, randomized, single-center study. Clin Vaccine Immunol 2010;17:1952-7.
80. Dollfus H, Hafner R, Hofmann HM, et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: Ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol 2000;118(0003-9950 (Print)):1386-92.
81. Hill SC, Namde M, Dwyer A, et al. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol 2007;37:145-52.
82. Lainka E, Neudorf U, Lohse P, et al. Analysis of Cryopyrin-associated periodic syndromes (CAPS) in German children: Epidemiological, clinical and genetic characteristics. Klin Padiatr 2010;222:356-61.
83. Rowczenio DM, Trojer H, Russell T, et al. Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature. Arthritis Res Ther 2013;15:R30.
84. Aksentijevich I, Galon J, Soares M, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001;69:301-14.
85. Siemiatkowska AM, van den Born Ll, van Hagen PM, et al. Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 2013;120:2697-705.
86. Minoia F, Davi S, Horne A, et al. Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients. Arthritis Rheumatol 2014;66:3160-9.
87. Clinical Trials Registry. https://clinicaltrials.gov(accessed Feb 2015).