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

被引：71

作者：

Romano, Micol ^{[1
]}

Arici, Z. Serap ^{[2
]}

Piskin, David ^{[3
,4
]}

Alehashemi, Sara ^{[5
]}

Aletaha, Daniel ^{[6
]}

Barron, Karyl S. ^{[7
]}

Benseler, Susanne ^{[8
]}

Berard, Roberta ^{[9
]}

Broderick, Lori ^{[10
,11
]}

Dedeoglu, Fatma ^{[12
]}

Diebold, Michelle ^{[13
]}

Durrant, Karen L. ^{[14
]}

Ferguson, Polly ^{[15
]}

Foell, Dirk ^{[16
]}

Hausmann, Jonathan ^{[17
]}

Jones, Olcay Y. ^{[18
]}

Kastner, Daniel L. ^{[7
]}

Lachmann, Helen J. ^{[19
]}

Laxer, Ronald M. ^{[20
]}

Rivera, Dorelia ^{[14
]}

Ruperto, Nicolino ^{[21
]}

Simon, Anna ^{[22
]}

Twilt, Marinka ^{[8
]}

Frenkel, Joost ^{[23
]}

Hoffman, Hal ^{[10
]}

de Jesus, Adriana A. ^{[24
]}

Kuemmerle-Deschner, Jasmin Beate ^{[25
]}

Ozen, Seza ^{[26
]}

Gattorno, Marco ^{[27
,28
]}

Goldbach-Mansky, Raphaela ^{[29
]}

Demirkaya, Erkan ^{[30
,31
]}

机构：

[1] Western Univ, Div Pediat Rheumatol, Dept Pediat, Behcet & Autoinflammatory Dis Ctr, London, ON, Canada

[2] Sanliurfa Mehmet Akif Inan Training & Res Hosp, Dept Pediat Rheumatol, Sanliurfa, Turkey

[3] Western Univ, Lawson Hlth Res Inst, London, ON, Canada

[4] Western Univ, Dept Epidemiol & Biostat, London, ON, Canada

[5] NIAID, Translat Autoinflammatory Dis Sect TADS, Lab Clin Immunol & Microbiol LCIM, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[6] Med Univ Vienna, Div Rheumatol, Vienna, Austria

[7] Natl Inst Allergy & Immunol, Div Intramural Res, NIH, Bethesda, MD USA

[8] Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp, Div Rheumatol,Dept Pediat, Calgary, AB, Canada

[9] Western Univ, Schulich Sch Med & Dent, Div Pediat Rheumatol, Dept Paediat, London, ON, Canada

[10] Univ Calif San Diego, Div Pediat Allergy Immunol & Rheumatol, San Diego, CA 92103 USA

[11] Rady Childrens Hosp, San Diego, CA USA

[12] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA

[13] LHSC Childrens Hosp, Dept Paediat, Div Pediat Rheumatol, London, ON, Canada

[14] Autoinflammatory Alliance, Alliance, CA USA

[15] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[16] Univ Munster, Dept Pediat Rheumatol & Immunol, Munster, Germany

[17] Boston Childrens Hosp, Dept Pediat, Boston, MA USA

[18] Walter Reed Natl Mil Med Ctr WRNMMC, Dept Pediat, Bethesda, MD USA

[19] UCL, Dept Med, London, England

[20] Univ Toronto, Div Rheumatol, Toronto, ON, Canada

[21] UOSID Centro Trial, IRCCS Ist Giannina Gaslini, Genoa, Italy

[22] Radboud Univ Nijmegen Med Ctr, Dept Gen Internal Med, Nijmegen, Netherlands

[23] Wilhelmina Kinderziekenhuis Poliklin Algemene, Dept Pediat, Utrecht, Netherlands

[24] NIAID, Lab Clin Immunol & Microbiol, 9000 Rockville Pike, Bethesda, MD 20892 USA

[25] Univ Hosp Tuebingen, Dept Pediat, Div Pediat Rheumatol, Tubingen, Germany

[26] Hacettepe Univ, Dept Pediat Rheumatol, Ankara, Turkey

[27] IRCCS Ist Giannina Gaslini, UOSD Ctr Malattie Autoinfiammatorie & Immunodefic, Genoa, Italy

[28] IRCCS Ist Giannina Gaslini, Clin Pediat Reumatol, Genoa, Italy

[29] NIAID, Translat Autoinflammatory Dis Sect TADS, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[30] Western Univ, Div Paediat Rheumatol, Dept Paediat, Behcet & Autoinflammatory Dis Ctr,Schulich Sch Me, London, ON, Canada

[31] Western Univ, Dept Epidemiol & Biostat, Schulich Sch Med & Dent, London, ON, Canada

来源：

ANNALS OF THE RHEUMATIC DISEASES | 2022年 / 81卷 / 07期

关键词：

Cytokines; Cryopyrin-Associated Periodic Syndromes; Inflammation; Interleukin 1 Receptor Antagonist Protein; MUCKLE-WELLS-SYNDROME; FAMILIAL MEDITERRANEAN FEVER; LONG-TERM EFFICACY; QUALITY-OF-LIFE; HYPERIMMUNOGLOBULINEMIA-D; INFLAMMATORY DISEASE; OPEN-LABEL; CLINICAL-FEATURES; HYPER-IGD; CIAS1; MUTATIONS;

D O I：

10.1136/annrheumdis-2021-221801

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and deficiency of the IL-1 receptor antagonist (DIRA), belong to a group of rare immunodysregulatory diseases that primarily present in early childhood with variable multiorgan involvement. When untreated, patients with severe clinical phenotypes have a poor prognosis, and diagnosis and management of these patients can be challenging. However, approved treatments targeting the proinflammatory cytokine IL-1 have been life changing and have significantly improved patient outcomes. Objective To establish evidence-based recommendations for diagnosis, treatment and monitoring of patients with IL-1 mediated autoinflammatory diseases to standardise their management. Methods A multinational, multidisciplinary task force consisting of physician experts, including rheumatologists, patients or caregivers and allied healthcare professionals, was established. Evidence synthesis, including systematic literature review and expert consensus (Delphi) via surveys, was conducted. Consensus methodology was used to formulate and vote on statements to guide optimal patient care. Results The task force devised five overarching principles, 14 statements related to diagnosis, 10 on therapy, and nine focused on long-term monitoring that were evidence and/or consensus-based for patients with IL-1 mediated diseases. An outline was developed for disease-specific monitoring of inflammation-induced organ damage progression and reported treatments of CAPS, TRAPS, MKD and DIRA. Conclusion The 2021 EULAR/American College of Rheumatology points to consider represent state-of-the-art knowledge based on published data and expert opinion to guide diagnostic evaluation, treatment and monitoring of patients with CAPS, TRAPS, MKD and DIRA, and to standardise and improve care, quality of life and disease outcomes.

引用

页码：907 / 921

页数：15

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