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19.05.2022 | Original Article

Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus

verfasst von: Sulaiman M. Al-Mayouf, Lujayn Akbar, Reem Abdwani, Giulia Ginesi, Stefano Volpi, Marco Gattorno, Reima Bakry, Samia AlHashim, Alhanouf Alsaleem

Erschienen in: Clinical Rheumatology | Ausgabe 9/2022

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Abstract

Objective

To evaluate the application of the EULAR/ACR-2019 criteria to monogenic lupus patients and compare its performance against the SLICC-2012 criteria.

Methods

In a multicenter retrospective cohort study, consecutive patients with monogenic lupus from three tertiary lupus clinics were enrolled. The diagnosis of monogenic lupus was based on the expert physician’s opinion or fulfilling the SLICC-2012 criteria. All enrolled patients had genetic variants. A control group of sporadic childhood SLE (cSLE) and non-SLE patients, were included. A descriptive data analysis was conducted, and the EULAR/ACR-2019 and SLICC-2012 criteria were applied to both groups.

Results

Forty-nine patients with monogenic lupus with a median age at diagnosis of 6.0 (IQR 3.0–10.8) years and 104 controls (55 patients with cSLE and 49 non-lupus patients with a median age at diagnosis of 10.0 and 5.0 respectively) were included. Forty-four (89.8%) patients with monogenic lupus fulfilled the EULAR/ACR-2019 with a mean score of 22.3±8.9. The most frequent domains were immunologic (93.9%), musculoskeletal and renal (each 57.1%), and mucocutaneous (55.1%). Fifty-four (98.2%) cSLE patients and six (12.2%) non-lupus patients met the EULAR/ACR-2019 criteria with a mean score of 22.5±9.2 and 8.5±5.2, respectively. The sensitivity of the EULAR/ACR-2019 criteria in monogenic lupus was 89.9% (95% CI: 78.3–90.2), while the specificity was 87.6% (95% CI: 75.2–88.7).

Conclusion

This is the first and largest cohort of monogenic lupus patients testing the performance of the 2019-EULAR/ACR criteria. It efficiently classifies monogenic lupus patients, irrespective of the underlying genetic variants. Further studies are needed before these criteria are adopted worldwide.

Key Points

• Typically, patients with monogenic lupus have early onset severe disease, especially with mucocutaneous manifestations and a strong family history of SLE.

• Monogenic lupus is a distinctive entity and might differ from the sporadic childhood SLE.

• Our study includes a large multinational cohort of monogenic lupus with heterogeneous phenotypic features and underlying genetic variants.

• Our study demonstrates that the EULAR/ACR-2019 criteria efficiently classified monogenic lupus patients, irrespective of the diversity of the underlying genetic variants.

Barsalou J, Levy D, Silverman E (2013) An update on childhood-onset systemic lupus erythematosus. Curr Opin Rheumatol. 25:616–622. https://doi.org/10.1097/BOR.0b013e328363e868CrossRefPubMed

Smith EMD, Lythgoe H, Midgley A, Beresford M, Hedrich C (2019) Juvenile-onset systemic lupus erythematosus: Update on clinical presentation, pathophysiology and treatment options. Clin Immunol. 209:108274. https://doi.org/10.1016/j.clim.2019.108274CrossRefPubMed

Vachvanichsanong P, Dissaneewate P, McNeil E (2011) Twenty-two years’ experience with childhood-onset SLE in a developing country: are outcomes similar to developed countries? Arch Dis Child. 96:44–49. https://doi.org/10.1136/adc.2010.183699CrossRefPubMed

Brunner H, Gladman D, Ibañez D, Urowitz M, Silverman E (2008) Difference in disease features between childhood-onset and adult-onset systemic lupus erythematosus. Arthritis Rheum. 58:556–562. https://doi.org/10.1002/art.23204CrossRefPubMed

Morgan T, Watson L, McCann L, Beresford M (2013) Children and adolescents with SLE: not just little adults. Lupus. 22:1309–1319. https://doi.org/10.1177/0961203313502863CrossRefPubMed

Massias J, Smith E, Al-Abadi E, Armon K, Bailey K, Ciurtin C et al (2020) Clinical and laboratory characteristics in juvenile-onset systemic lupus erythematosus across age groups. Lupus. 29:474–481. https://doi.org/10.1177/0961203320909156CrossRefPubMedPubMedCentral

Al-Mayouf SM, Al Sonbul A (2008) Influence of gender and age of onset on the outcome in children with systemic lupus erythematosus. Clin Rheumatol. 27:1159–1162. https://doi.org/10.1007/s10067-008-0887-zCrossRefPubMed

Almlöf J, Nystedt S, Leonard D, Eloranta M, Grosso G, Sjöwall C et al (2019) Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus. Hum Genet. 138:141–150. https://doi.org/10.1007/s00439-018-01966-7CrossRefPubMedPubMedCentral

Al-Mayouf SM, Sunker A, Abdwani R, Abrawi S, Almurshedi F, Alhashmi N et al (2011) Loss-offunction variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 43:1186–1188. https://doi.org/10.1038/ng.975CrossRefPubMed

10.

Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G et al (2019) Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. Pediatr Rheumatol Online J 17(1):52. https://doi.org/10.1186/s12969-019-0349-yCrossRefPubMedPubMedCentral

11.

Liphaus B, Caramalho I, Rangel-Santos A, Sliva C, Demengeot J, Carneiro-Sampaio M (2020) LRBA deficiency: a new genetic cause of monogenic lupus. Ann Rheum Dis. 79:427–428. https://doi.org/10.1136/annrheumdis-2019-216410CrossRefPubMed

12.

Hiraki L, Sliverman E (2017) Genomics of systemic lupus erythematosus: Insights gained by studying monogenic young-onset systemic lupus erythematosus. Rheum Dis Clin North Am. 43:415–434. https://doi.org/10.1016/j.rdc.2017.04.005CrossRefPubMed

13.

Demirkaya E, Sahin S, Romano M, Zhou Q, Aksentijevich I (2020) New horizons in the genetic etiology of systemic lupus erythematosus and lupus-like disease: monogenic lupus and beyond. J Clin Med. 5:9(3). https://doi.org/10.3390/jcm9030712CrossRef

14.

Alperin J, Ortiz-Fernández L, Sawalha A (2018) Monogenic Lupus: A developing paradigm of disease. Front Immunol. 9:2496. https://doi.org/10.3389/fimmu.2018.02496CrossRefPubMedPubMedCentral

15.

Omarjee O, Picard C, Frachette C, Moreews M, Rieux-Laucat F, Soulas-Sprauel P et al (2019) Monogenic lupus: Dissecting heterogeneity. Autoimmun Rev 18(10):102361. https://doi.org/10.1016/j.autrev.2019.102361CrossRefPubMed

16.

Rodero M, Tesser A, Bartok E, Rice G, Della Mina E, Depp M et al (2017) Type I interferonmediated autoinflammation due to DNase II deficiency. Na Commun 8(1):2176. https://doi.org/10.1038/s41467-017-01932-3CrossRef

17.

Petri M, Orbai A, Alarcon G, Gordon C, Merrill J, Fortin P et al (2012) Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. 64:2677–2686. https://doi.org/10.1002/art.34473CrossRefPubMedPubMedCentral

18.

Dahlström Ö, Sjöwall C (2019) The diagnostic accuracies of the 2012 SLICC criteria and the proposed EULAR/ ACR criteria for systemic lupus erythematosus classification are comparable. Lupus. 28:778–782. https://doi.org/10.1177/0961203319846388CrossRefPubMedPubMedCentral

19.

Tao J, Hiraki L, Levy D, Silverman E (2019) Comparison of sensitivities of American College of Rheumatology and Systemic Lupus International Collaborating Clinics classification criteria in childhood-onset systemic lupus erythematosus. J Rheumatol. https://doi.org/10.3899/jrheum.180337

20.

Rodrigues Fonseca A, Felix Rodrigues M, Sztajnbok F, Gerardin Poirot Land M, Knupp Feitosa de Oliveira S (2019) Comparison among ACR 1997, SLICC and the new EULAR/ ACR classification criteria in childhood-onset systemic lupus erythematosus. Adv Rheumatol. 59(1):20. https://doi.org/10.1186/s42358-019-0062-zCrossRefPubMed

21.

Aljaberi N, Nguyen K, Strahle C, Merritt A, Mathur A, Brunner H (2021) The performance of the new 2019-EULAR/ACR classification criteria for systemic lupus erythematosus in children and young adults. Arthritis Care Res (Hoboken). 73(4):580–585. https://doi.org/10.1002/acr.24430CrossRefPubMed

22.

Petty R, Southwood T, Manners P, Baum J, Glass D, Goldenberg J et al (2004) International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 31:390–392PubMed

23.

Rider L, Katz I, Jones O (2013) Developments in the classification and treatment of the juvenile idiopathic inflammatory myopathies. Rheum Dis Clin North Am. 39:877–904. https://doi.org/10.1016/j.rdc.2013.06.001CrossRefPubMed

24.

Kim H, Sanchez G, Goldbach-Mansky R (2016) Insights from Mendelian interferonopathies: Comparison of CANDLE, SAVI with AGS, monogenic lupus. J Mol Med. 94:1111–1127. https://doi.org/10.1007/s00109-016-1465-5CrossRefPubMed

25.

Al-Mayouf SM, AlSaleem A, AlMutairi N, AlSonbul A, Alzaid T, Alazami A et al (2018) Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE. Int J Rheum Dis. 21:208–213. https://doi.org/10.1111/1756-185X.13228CrossRefPubMed

26.

Batu E, Akca U, Kısaarslan A, Sağ E, Demir F, Demir S et al (2021) The Performances of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 Classification Criteria in Pediatric Systemic Lupus Erythematosus. J Rheumatol. 48:907–914. https://doi.org/10.3899/jrheum.200871CrossRefPubMed

27.

Abdwani R, Al Masroori E, Abdullah E, Al Abrawi S, Al-Zakwani I (2021) Evaluating the performance of ACR, SLICC and EULAR/ACR classification criteria in childhood onset systemic lupus erythematosus. Pediatr Rheumatol Online J 19:141. https://doi.org/10.1186/s12969-021-00619-wCrossRefPubMedPubMedCentral

28.

Smith E, Rasul S, Ciurtin C, Al-Abadi E, Armon K, Bailey K et al (2021) Limited sensitivity and specificity of the ACR/EULAR-2019 classification criteria for SLE in JSLE?-observations from the UK JSLE Cohort Study. Rheumatology (Oxford). 60:5271–5281. https://doi.org/10.1093/rheumatology/keab210CrossRefPubMedPubMedCentral

Titel: Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus
verfasst von: Sulaiman M. Al-Mayouf
Lujayn Akbar
Reem Abdwani
Giulia Ginesi
Stefano Volpi
Marco Gattorno
Reima Bakry
Samia AlHashim
Alhanouf Alsaleem
Publikationsdatum: 19.05.2022
Verlag: Springer International Publishing
Erschienen in: Clinical Rheumatology / Ausgabe 9/2022
Print ISSN: 0770-3198
Elektronische ISSN: 1434-9949
DOI: https://doi.org/10.1007/s10067-022-06209-9

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