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Autoimmune interstitial lung disease, arthritis syndrome

MedGen UID:
1800821
•Concept ID:
C5243948
•
Disease or Syndrome
Synonym: COPA (coatomer protein complex subunit alpha) syndrome
SNOMED CT: COPA (coatomer protein complex subunit alpha) syndrome (1222679006); Autoimmune interstitial lung disease, arthritis syndrome (1222679006)

Definition

A rare genetic systemic or rheumatologic disease characterised by interstitial lung disease (often with pulmonary haemorrhage) and inflammatory arthritis, associated with high-titre autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnoea, cough, haemoptysis, and/or joint pain. Some patients may also develop glomerular disease. [from SNOMEDCT_US]

Professional guidelines

PubMed

2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Screening and Monitoring of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases.
Johnson SR, Bernstein EJ, Bolster MB, Chung JH, Danoff SK, George MD, Khanna D, Guyatt G, Mirza RD, Aggarwal R, Allen A Jr, Assassi S, Buckley L, Chami HA, Corwin DS, Dellaripa PF, Domsic RT, Doyle TJ, Falardeau CM, Frech TM, Gibbons FK, Hinchcliff M, Johnson C, Kanne JP, Kim JS, Lim SY, Matson S, McMahan ZH, Merck SJ, Nesbitt K, Scholand MB, Shapiro L, Sharkey CD, Summer R, Varga J, Warrier A, Agarwal SK, Antin-Ozerkis D, Bemiss B, Chowdhary V, Dematte D'Amico JE, Hallowell R, Hinze AM, Injean PA, Jiwrajka N, Joerns EK, Lee JS, Makol A, McDermott GC, Natalini JG, Oldham JM, Saygin D, Lakin KS, Singh N, Solomon JJ, Sparks JA, Turgunbaev M, Vaseer S, Turner A, Uhl S, Ivlev I
Arthritis Rheumatol 2024 Aug;76(8):1201-1213. Epub 2024 Jul 8 doi: 10.1002/art.42860. PMID: 38973714
Clinical manifestations and treatment of antisynthetase syndrome.
Marco JL, Collins BF
Best Pract Res Clin Rheumatol 2020 Aug;34(4):101503. Epub 2020 Apr 11 doi: 10.1016/j.berh.2020.101503. PMID: 32284267
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Recent clinical studies

Etiology

2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Screening and Monitoring of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases.
Johnson SR, Bernstein EJ, Bolster MB, Chung JH, Danoff SK, George MD, Khanna D, Guyatt G, Mirza RD, Aggarwal R, Allen A Jr, Assassi S, Buckley L, Chami HA, Corwin DS, Dellaripa PF, Domsic RT, Doyle TJ, Falardeau CM, Frech TM, Gibbons FK, Hinchcliff M, Johnson C, Kanne JP, Kim JS, Lim SY, Matson S, McMahan ZH, Merck SJ, Nesbitt K, Scholand MB, Shapiro L, Sharkey CD, Summer R, Varga J, Warrier A, Agarwal SK, Antin-Ozerkis D, Bemiss B, Chowdhary V, Dematte D'Amico JE, Hallowell R, Hinze AM, Injean PA, Jiwrajka N, Joerns EK, Lee JS, Makol A, McDermott GC, Natalini JG, Oldham JM, Saygin D, Lakin KS, Singh N, Solomon JJ, Sparks JA, Turgunbaev M, Vaseer S, Turner A, Uhl S, Ivlev I
Arthritis Rheumatol 2024 Aug;76(8):1201-1213. Epub 2024 Jul 8 doi: 10.1002/art.42860. PMID: 38973714
Connective tissue disease-associated interstitial lung disease.
Storrer KM, Müller CS, Pessoa MCA, Pereira CAC
J Bras Pneumol 2024;50(1):e20230132. Epub 2024 Mar 22 doi: 10.36416/1806-3756/e20230132. PMID: 38536980Free PMC Article
Intravenous Immunoglobulin in Idiopathic Inflammatory Myopathies: a Practical Guide for Clinical Use.
Gandiga PC, Ghetie D, Anderson E, Aggrawal R
Curr Rheumatol Rep 2023 Aug;25(8):152-168. Epub 2023 Jun 1 doi: 10.1007/s11926-023-01105-w. PMID: 37261663
Lung complications of Sjogren syndrome.
Luppi F, Sebastiani M, Sverzellati N, Cavazza A, Salvarani C, Manfredi A
Eur Respir Rev 2020 Sep 30;29(157) Epub 2020 Aug 18 doi: 10.1183/16000617.0021-2020. PMID: 32817113Free PMC Article
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Diagnosis

A Review of Antisynthetase Syndrome-Associated Interstitial Lung Disease.
Patel P, Marinock JM, Ajmeri A, Brent LH
Int J Mol Sci 2024 Apr 18;25(8) doi: 10.3390/ijms25084453. PMID: 38674039Free PMC Article
Immune dysregulation.
Long A, Kleiner A, Looney RJ
J Allergy Clin Immunol 2023 Jan;151(1):70-80. doi: 10.1016/j.jaci.2022.11.001. PMID: 36608984
Lung complications of Sjogren syndrome.
Luppi F, Sebastiani M, Sverzellati N, Cavazza A, Salvarani C, Manfredi A
Eur Respir Rev 2020 Sep 30;29(157) Epub 2020 Aug 18 doi: 10.1183/16000617.0021-2020. PMID: 32817113Free PMC Article
Clinical manifestations and treatment of antisynthetase syndrome.
Marco JL, Collins BF
Best Pract Res Clin Rheumatol 2020 Aug;34(4):101503. Epub 2020 Apr 11 doi: 10.1016/j.berh.2020.101503. PMID: 32284267
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Therapy

Intravenous Immunoglobulin in Idiopathic Inflammatory Myopathies: a Practical Guide for Clinical Use.
Gandiga PC, Ghetie D, Anderson E, Aggrawal R
Curr Rheumatol Rep 2023 Aug;25(8):152-168. Epub 2023 Jun 1 doi: 10.1007/s11926-023-01105-w. PMID: 37261663
Antisynthetase syndrome - much more than just a myopathy.
Opinc AH, Makowska JS
Semin Arthritis Rheum 2021 Feb;51(1):72-83. Epub 2020 Dec 22 doi: 10.1016/j.semarthrit.2020.09.020. PMID: 33360231
Lung complications of Sjogren syndrome.
Luppi F, Sebastiani M, Sverzellati N, Cavazza A, Salvarani C, Manfredi A
Eur Respir Rev 2020 Sep 30;29(157) Epub 2020 Aug 18 doi: 10.1183/16000617.0021-2020. PMID: 32817113Free PMC Article
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R
J Clin Invest 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. PMID: 31874111Free PMC Article
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Prognosis

Connective tissue disease-associated interstitial lung disease.
Storrer KM, Müller CS, Pessoa MCA, Pereira CAC
J Bras Pneumol 2024;50(1):e20230132. Epub 2024 Mar 22 doi: 10.36416/1806-3756/e20230132. PMID: 38536980Free PMC Article
Lung complications of Sjogren syndrome.
Luppi F, Sebastiani M, Sverzellati N, Cavazza A, Salvarani C, Manfredi A
Eur Respir Rev 2020 Sep 30;29(157) Epub 2020 Aug 18 doi: 10.1183/16000617.0021-2020. PMID: 32817113Free PMC Article
Connective Tissue Disease-Related Interstitial Lung Disease: Prevalence, Patterns, Predictors, Prognosis, and Treatment.
Jeganathan N, Sathananthan M
Lung 2020 Oct;198(5):735-759. Epub 2020 Aug 11 doi: 10.1007/s00408-020-00383-w. PMID: 32780179
Clinical manifestations and treatment of antisynthetase syndrome.
Marco JL, Collins BF
Best Pract Res Clin Rheumatol 2020 Aug;34(4):101503. Epub 2020 Apr 11 doi: 10.1016/j.berh.2020.101503. PMID: 32284267
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Clinical prediction guides

Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping.
Tanaka H, Okada Y, Nakayamada S, Miyazaki Y, Sonehara K, Namba S, Honda S, Shirai Y, Yamamoto K, Kubo S, Ikari K, Harigai M, Sonomoto K, Tanaka Y
Ann Rheum Dis 2024 Jan 11;83(2):242-252. doi: 10.1136/ard-2023-224537. PMID: 37903543Free PMC Article
Ro52/TRIM21 - From host defense to autoimmunity.
Holwek E, Opinc-Rosiak A, Sarnik J, Makowska J
Cell Immunol 2023 Nov-Dec;393-394:104776. Epub 2023 Oct 15 doi: 10.1016/j.cellimm.2023.104776. PMID: 37857191
Antisynthetase syndrome - much more than just a myopathy.
Opinc AH, Makowska JS
Semin Arthritis Rheum 2021 Feb;51(1):72-83. Epub 2020 Dec 22 doi: 10.1016/j.semarthrit.2020.09.020. PMID: 33360231
Connective Tissue Disease-Related Interstitial Lung Disease: Prevalence, Patterns, Predictors, Prognosis, and Treatment.
Jeganathan N, Sathananthan M
Lung 2020 Oct;198(5):735-759. Epub 2020 Aug 11 doi: 10.1007/s00408-020-00383-w. PMID: 32780179
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R
J Clin Invest 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. PMID: 31874111Free PMC Article

Recent systematic reviews

A systematic literature review informing the consensus statement on efficacy and safety of pharmacological treatment with interleukin-6 pathway inhibition with biological DMARDs in immune-mediated inflammatory diseases.
Kastrati K, Aletaha D, Burmester GR, Chwala E, Dejaco C, Dougados M, McInnes IB, Ravelli A, Sattar N, Stamm TA, Takeuchi T, Trauner M, van der Heijde D, Voshaar MJH, Winthrop K, Smolen JS, Kerschbaumer A
RMD Open 2022 Sep;8(2) doi: 10.1136/rmdopen-2022-002359. PMID: 36260501Free PMC Article
Sjögren syndrome overlapping with ANCA-associated vasculitis: Four additional cases and systematic literature review.
Coustal C, Guillope B, Serrand C, Morel J, Taieb G, Castille E, Meliani K, Darmon O, Goulabchand R, Guilpain P
Autoimmun Rev 2022 Jun;21(6):103099. Epub 2022 Apr 19 doi: 10.1016/j.autrev.2022.103099. PMID: 35452855
Defining anti-synthetase syndrome: a systematic literature review.
Zanframundo G, Faghihi-Kashani S, Scirè CA, Bonella F, Corte TJ, Doyle TJ, Fiorentino D, Gonzalez-Gay MA, Hudson M, Kuwana M, Lundberg IE, Mammen A, McHugh N, Miller FW, Monteccucco C, Oddis CV, Rojas-Serrano J, Schmidt J, Selva-O'Callaghan A, Werth VP, Sakellariou G, Aggarwal R, Cavagna L
Clin Exp Rheumatol 2022 Feb;40(2):309-319. Epub 2022 Feb 25 doi: 10.55563/clinexprheumatol/8xj0b9. PMID: 35225224Free PMC Article
Cyclophosphamide for connective tissue disease-associated interstitial lung disease.
Barnes H, Holland AE, Westall GP, Goh NS, Glaspole IN
Cochrane Database Syst Rev 2018 Jan 3;1(1):CD010908. doi: 10.1002/14651858.CD010908.pub2. PMID: 29297205Free PMC Article
Characterization of systemic disease in primary Sjögren's syndrome: EULAR-SS Task Force recommendations for articular, cutaneous, pulmonary and renal involvements.
Ramos-Casals M, Brito-Zerón P, Seror R, Bootsma H, Bowman SJ, Dörner T, Gottenberg JE, Mariette X, Theander E, Bombardieri S, De Vita S, Mandl T, Ng WF, Kruize A, Tzioufas A, Vitali C; EULAR Sjögren Syndrome Task Force
Rheumatology (Oxford) 2015 Dec;54(12):2230-8. Epub 2015 Jul 31 doi: 10.1093/rheumatology/kev200. PMID: 26231345Free PMC Article

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