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

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 (DIR...

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Published inArthritis & rheumatology (Hoboken, N.J.) Vol. 74; no. 7; pp. 1102 - 1121
Main Authors Romano, Micol, Arici, Z. Serap, Piskin, David, Alehashemi, Sara, Aletaha, Daniel, Barron, Karyl, Benseler, Susanne, Berard, Roberta A., Broderick, Lori, Dedeoglu, Fatma, Diebold, Michelle, Durrant, Karen, Ferguson, Polly, Foell, Dirk, Hausmann, Jonathan S., Jones, Olcay Y., Kastner, Daniel, Lachmann, Helen J., Laxer, Ronald M., Rivera, Dorelia, Ruperto, Nicola, Simon, Anna, Twilt, Marinka, Frenkel, Joost, Hoffman, Hal M., Jesus, Adriana A., Kuemmerle‐Deschner, Jasmin B., Ozen, Seza, Gattorno, Marco, Goldbach‐Mansky, Raphaela, Demirkaya, Erkan
Format Journal Article
LanguageEnglish
Published Boston, USA Wiley Periodicals, Inc 01.07.2022
Wiley Subscription Services, Inc
Subjects
Child, Preschool
Children
Cryopyrin
Cryopyrin-Associated Periodic Syndromes - diagnosis
Cryopyrin-Associated Periodic Syndromes - drug therapy
Cytokines
Diagnosis
Disorders
Fever
Health services
Hereditary Autoinflammatory Diseases - diagnosis
Hereditary Autoinflammatory Diseases - drug therapy
Hereditary Autoinflammatory Diseases - genetics
Humans
Inflammation
Inflammatory diseases
Interleukin 1 Receptor Antagonist Protein - therapeutic use
Interleukin-1
Interleukins
Kinases
Literature reviews
Mevalonate kinase
Mevalonate Kinase Deficiency - diagnosis
Mevalonate Kinase Deficiency - drug therapy
Mevalonic acid
Monitoring
Necrosis
Patients
Phenotypes
Quality of Life
Receptors
Receptors, Interleukin-1
Rheumatology
Task forces
Telemedicine
Tumor necrosis factor
Tumor necrosis factor-TNF
Tumors
United States
United States
Online AccessGet full text

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Abstract 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.
AbstractList 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. To establish evidence-based recommendations for diagnosis, treatment and monitoring of patients with IL-1 mediated autoinflammatory diseases to standardise their management. 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. 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. 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.
BACKGROUNDThe 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. OBJECTIVETo establish evidence-based recommendations for diagnosis, treatment and monitoring of patients with IL-1 mediated autoinflammatory diseases to standardise their management. METHODSA 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. RESULTSThe 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. CONCLUSIONThe 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.
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.
Author Hausmann, Jonathan S.
Romano, Micol
Kuemmerle‐Deschner, Jasmin B.
Rivera, Dorelia
Ozen, Seza
Hoffman, Hal M.
Alehashemi, Sara
Barron, Karyl
Goldbach‐Mansky, Raphaela
Foell, Dirk
Gattorno, Marco
Berard, Roberta A.
Jones, Olcay Y.
Ferguson, Polly
Aletaha, Daniel
Ruperto, Nicola
Piskin, David
Twilt, Marinka
Kastner, Daniel
Lachmann, Helen J.
Frenkel, Joost
Durrant, Karen
Simon, Anna
Laxer, Ronald M.
Diebold, Michelle
Benseler, Susanne
Dedeoglu, Fatma
Broderick, Lori
Jesus, Adriana A.
Demirkaya, Erkan
Arici, Z. Serap
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/35621220$$D View this record in MEDLINE/PubMed
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Copyright 2022 American College of Rheumatology. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
2022 American College of Rheumatology
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Fri Aug 23 01:59:04 EDT 2024
Sat Sep 28 08:19:39 EDT 2024
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Issue 7
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License 2022 American College of Rheumatology. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
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MergedId FETCHMERGED-LOGICAL-c3889-87830e8be16e6b8e28ca6fddab6919b74fae8baa36cafae873f4dcbcb61ade903
Notes This article is published simultaneously in
and was copyedited by
Drs. Romano, Arici and Piskin contributed equally to this work.
Correction added after online publication 27 May 2022: a new paragraph was added to disclose Dr. Kuemmerle‐Deschner's work as a member of ERN‐RITA.
Annals of the Rheumatic Diseases
*
Supported by EULAR/American College of Rheumatology, and supported in part by the intramural research programme of the NIH institutes, NIAID, NHGRI and NIAMS.
Dr. Kuemmerle‐Deschner's work was done in cooperation with ERN‐RITA.
.
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  article-title: Burden of illness in hereditary periodic fevers: a multinational observational patient diary study
  publication-title: Clin Exp Rheumatol
  contributor:
    fullname: Kuemmerle‐Deschner JB
– ident: e_1_2_8_3_1
  doi: 10.1056/NEJMoa0807865
– ident: e_1_2_8_65_1
  doi: 10.1542/peds.2009-0088
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Snippet Background The interleukin‐1 (IL‐1) mediated systemic autoinflammatory diseases, including the cryopyrin‐ associated periodic syndromes (CAPS), tumour necrosis...
The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin- associated periodic syndromes (CAPS), tumour necrosis factor...
BackgroundThe interleukin‐1 (IL‐1) mediated systemic autoinflammatory diseases, including the cryopyrin‐ associated periodic syndromes (CAPS), tumour necrosis...
BACKGROUNDThe interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin- associated periodic syndromes (CAPS), tumour necrosis...
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SubjectTerms Child, Preschool
Children
Cryopyrin
Cryopyrin-Associated Periodic Syndromes - diagnosis
Cryopyrin-Associated Periodic Syndromes - drug therapy
Cytokines
Diagnosis
Disorders
Fever
Health services
Hereditary Autoinflammatory Diseases - diagnosis
Hereditary Autoinflammatory Diseases - drug therapy
Hereditary Autoinflammatory Diseases - genetics
Humans
Inflammation
Inflammatory diseases
Interleukin 1 Receptor Antagonist Protein - therapeutic use
Interleukin-1
Interleukins
Kinases
Literature reviews
Mevalonate kinase
Mevalonate Kinase Deficiency - diagnosis
Mevalonate Kinase Deficiency - drug therapy
Mevalonic acid
Monitoring
Necrosis
Patients
Phenotypes
Quality of Life
Receptors
Receptors, Interleukin-1
Rheumatology
Task forces
Telemedicine
Tumor necrosis factor
Tumor necrosis factor-TNF
Tumors
United States
Title 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
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https://www.ncbi.nlm.nih.gov/pubmed/35621220
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Volume 74
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