ZHOU Yu, SONG Hongmei. Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(2): 271-277. DOI: 10.12290/xhyxzz.2023-0043
Citation: ZHOU Yu, SONG Hongmei. Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(2): 271-277. DOI: 10.12290/xhyxzz.2023-0043

Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist

Funds: 

National Key Research and Development Program of China 2021YFC2702001

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-079

Beijing Natural Science Foundation L202050

More Information
  • Corresponding author:

    SONG Hongmei, E-mail: songhm1021@126.com

  • Received Date: January 17, 2023
  • Accepted Date: January 30, 2023
  • Available Online: February 09, 2023
  • Issue Publish Date: March 29, 2023
  • Interleukin-1 mediated autoinflammatory diseases, a large class of autoinflammatory diseases characterized by increased release of interleukin-1 or activation of the interleukin-1 pathway, mainly include familial Mediterranean fever, cryopyrin-associated periodic syndrome, tumor necrosis factor receptor associated periodic syndrome, mevalonate kinase deficiency syndrome and deficiency of the interleukin-1 receptor antagonist. These diseases present in early childhood and affect multiple systems, which, if untreated, may result in progressive organ damage, morbidity and mortality. In 2016, European Alliance of Associations for Rheumatology (EULAR) published recommendations for familial Mediterranean fever. For the latter four types of diseases, EULAR and the American College of Rheumatology developed several points in terms of diagnosis, management and monitoring in 2022. This article aims to introduce the application of these points.
  • [1]
    Masters SL, Simon A, Aksentijevich I, et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)[J]. Annu Rev Immunol, 2009, 27: 621-68. DOI: 10.1146/annurev.immunol.25.022106.141627
    [2]
    Ahmadi N, Brewer CC, Zalewski C, et al. Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations[J]. Otolaryngol Head Neck Surg, 2011, 145: 295-302. DOI: 10.1177/0194599811402296
    [3]
    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[J]. Arch Ophthalmol, 2000, 118: 1386-1392. DOI: 10.1001/archopht.118.10.1386
    [4]
    Hill SC, Namde M, Dwyer A, et al. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)[J]. Pediatr Radiol, 2007, 37: 145-152. DOI: 10.1007/s00247-006-0358-0
    [5]
    Lane T, Loeffler JM, Rowczenio DM, et al. AA amyloidosis complicating the hereditary periodic fever syndromes[J]. Arthritis Rheum, 2013, 65: 1116-1121. DOI: 10.1002/art.37827
    [6]
    Levy R, Gerard L, Kuemmerle-Deschner J, et al. Pheno-typic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry[J]. Ann Rheum Dis, 2015, 74: 2043-2049.
    [7]
    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[J]. Ann Rheum Dis, 2014, 73: 2160-2167. DOI: 10.1136/annrheumdis-2013-204184
    [8]
    Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever[J]. Ann Rheum Dis, 2016, 75: 644-651. DOI: 10.1136/annrheumdis-2015-208690
    [9]
    Romano M, Arici ZS, Piskin D, et al. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist[J]. Ann Rheum Dis, 2022, 81: 907-921. DOI: 10.1136/annrheumdis-2021-221801
    [10]
    Romano M, Arici ZS, Piskin D, et al. The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Arthritis Rheumatol, 2022, 74: 1102-1121. DOI: 10.1002/art.42139
    [11]
    Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)[J]. Ann Rheum Dis, 2017, 76: 942-947. DOI: 10.1136/annrheumdis-2016-209686
    [12]
    Zhou Y, Wang W, Zhong L, et al. Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature[J]. Orphanet J Rare Dis, 2022, 17: 214. DOI: 10.1186/s13023-022-02364-z
    [13]
    Sobolewska B, Angermair E, Deuter C, et al. NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms[J]. J Rheumatol, 2016, 43: 1101-1106. DOI: 10.3899/jrheum.150681
    [14]
    Kilic H, Sahin S, Duman C, et al. Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome[J]. Eur J Paediatr Neurol, 2019, 23: 466-472. DOI: 10.1016/j.ejpn.2019.03.006
    [15]
    Li C, Tan X, Zhang J, et al. Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS)[J]. Sci China Life Sci, 2017, 60: 1436-1444. DOI: 10.1007/s11427-017-9246-4
    [16]
    Livneh A, Drenth JP, Klasen IS, et al. Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features[J]. J Rheumatol, 1997, 24: 1558-1563.
    [17]
    van der Hilst JCH, 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[J]. Medicine (Baltimore), 2008, 87: 301-310. DOI: 10.1097/MD.0b013e318190cfb7
    [18]
    Jeyaratnam J, Ter Haar NM, de Sain-van der Velden MG, et al. Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)[J]. JIMD Rep, 2016, 27: 33-38.
    [19]
    Garg M, de Jesus AA, Chapelle D, et al. Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist[J]. JCI Insight, 2017, 2: e94838. DOI: 10.1172/jci.insight.94838
    [20]
    Feldmann J, Prieur AM, Quartier P, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes[J]. Am J Hum Genet, 2002, 71: 198-203. DOI: 10.1086/341357
    [21]
    Mcdermott MF, 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[J]. Cell, 1999, 97: 133-144. DOI: 10.1016/S0092-8674(00)80721-7
    [22]
    D'osualdo A, Picco P, Caroli F, et al. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever[J]. Eur J Hum Genet, 2005, 13: 314-320. DOI: 10.1038/sj.ejhg.5201323
    [23]
    Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist[J]. N Engl J Med, 2009, 360: 2426-2437. DOI: 10.1056/NEJMoa0807865
    [24]
    Rowczenio DM, Gomes SM, Arostegui JI, et al. Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience[J]. Front Immunol, 2017, 8: 1410. DOI: 10.3389/fimmu.2017.01410
    [25]
    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 anak-inra: a cohort study to determine three- and five-year outcomes[J]. Arthritis Rheum, 2012, 64: 2375-2386. DOI: 10.1002/art.34409
    [26]
    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[J]. Clin Ther, 2012, 34: 2091-2103. DOI: 10.1016/j.clinthera.2012.09.009
    [27]
    Brogan PA, Hofer M, Kuemmerle-Deschner JB, et al. Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger[J]. Arthritis Rheumatol, 2019, 71: 1955-1963. DOI: 10.1002/art.41004
    [28]
    Piram M, Kone-Paut I, Lachmann HJ, et al. Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes[J]. Ann Rheum Dis, 2014, 73: 2168-2173. DOI: 10.1136/annrheumdis-2013-203666
    [29]
    Batchelor HK, Marriott JF. Paediatric pharmacokinetics: key considerations[J]. Br J Clin Pharmacol, 2015, 79: 395-404. DOI: 10.1111/bcp.12267
    [30]
    Bodar EJ, Kuijk LM, Drenth JP, et al. On-demand anakinra treatment is effective in mevalonate kinase deficiency[J]. Ann Rheum Dis, 2011, 70: 2155-2158. DOI: 10.1136/ard.2011.149922
    [31]
    Grimwood C, Despert V, Jeru I, et al. On-demand treatment with anakinra: a treatment option for selected TRAPS patients[J]. Rheumatology (Oxford), 2015, 54: 1749-1751. DOI: 10.1093/rheumatology/kev111
    [32]
    Rodriguez-Smith J, Lin YC, Tsai WL, et al. Cerebrospinal Fluid Cytokines Correlate With Aseptic Meningitis and Blood-Brain Barrier Function in Neonatal-Onset Multisystem Inflammatory Disease: Central Nervous System Biomarkers in Neonatal-Onset Multisystem Inflammatory Disease Correlate With Central Nervous System Inflammation[J]. Arthritis Rheumatol, 2017, 69: 1325-1336. DOI: 10.1002/art.40055
    [33]
    Kuemmerle-Deschner JB, Welzel T, Hoertnagel K, et al. New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation[J]. Rheumatology (Oxford), 2020, 59: 3259-3263. DOI: 10.1093/rheumatology/keaa119
    [34]
    Papa R, Lane T, Minden K, et al. INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry[J]. J Allergy Clin Immunol Pract, 2021, 9: 783-991. e4. DOI: 10.1016/j.jaip.2020.10.053
    [35]
    Ozen S, Kuemmerle-Deschner JB, Cimaz R, et al. International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome[J]. Arthritis Care Res (Hoboken), 2017, 69: 578-586. DOI: 10.1002/acr.23120
    [36]
    Obici L, Meini A, Cattalini M, et al. Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis[J]. Ann Rheum Dis, 2011, 70: 1511-1512. DOI: 10.1136/ard.2010.143438
    [37]
    Ter Haar NM, Jeyaratnam J, Lachmann HJ, et al. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry[J]. Arthritis Rheumatol, 2016, 68: 2795-2805. DOI: 10.1002/art.39763
    [38]
    de Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes[J]. N Engl J Med, 2018, 378: 1908-1919. DOI: 10.1056/NEJMoa1706314
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