On-line First

J Rheum Dis

Published online December 14, 2023

© Korean College of Rheumatology

Clinical characteristics and prognostic value of autoantibody profile in children with monogenic lupus

Sulaiman M. Al-Mayouf, M.D.1,2 , Alaa Hamad, M.D.2 , Wassima Kaidali, M.D.2 , Raghad Alhuthil, M.S.1 , Alhanouf Alsaleem, M.D.1

1Depatrment of Pedaitric Rheumatology, King Faisal Specialist Hospital and Research Center, 2Department of Pediatrics, Alfaisal University, Riyadh, Saudi Arabia

Correspondence to : Sulaiman M. Al-Mayouf, https://orcid.org/0000-0003-0142-6698
Depatrment of Pedaitric Rheumatology, King Faisal Specialist Hospital and Research Center, Takhassusi St, Al Mathar Ash Shamali, Riyadh 11211, Saudi Arabia. E-mail: mayouf@kfshrc.edu.sa

Received: October 5, 2023; Revised: November 21, 2023; Accepted: December 4, 2023

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Objective: To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus.
Methods: This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022. We excluded familial lupus without genetic testing and patients with insufficient data. Collected data comprised clinical and laboratory findings, including the autoantibody profile, which included the anti-double-stranded DNA (anti-dsDNA), anti-Smith, anti–Sjögren's-syndrome-related antigen A (anti-SSA), anti–Sjögren's-syndrome-related antigen B (anti-SSB), and antiphospholipid (APL) antibodies. Also, disease activity and accrual disease damage were collected at the last follow-up visit.
Results: This study enrolled 27 Arab patients (14 males) with a median age of 11 years (interquartile range 8.0~16 years), with 63% having early-onset disease. The consanguinity rate and family history of lupus were high (74.1% and 55.6%, respectively). The most frequent clinical features were hematological (96.3%), fever (81.5%), mucocutaneous lesions (85.2%), and renal (66.7%). The frequency of the APL antibodies was 59.3%, anti-dsDNA was 55.6%, and anti-Smith and anti-SSA were 48.2% and 44.4%, respectively. Moreover, dsDNA antibodies were significantly associated with musculoskeletal complaints (p<0.05). Likewise, both anti-Smith and anti-SSA antibodies were linked to failure to thrive and recurrent infections in the univariate analysis (p<0.05).
Conclusion: Our study reveals autoantibody frequencies and their association with clinical and prognostic in a substantial monogenic lupus cohort. Distinct clinical manifestations and prognosis association with certain autoantibodies support the idea that monogenic lupus is a distinctive form of lupus. Larger studies needed to validate these findings.

Keywords Autoantibodies, Monogenic lupus, Systemic lupus erythematosus

Article

On-line First

J Rheum Dis

Published online December 14, 2023

Copyright © Korean College of Rheumatology.

Clinical characteristics and prognostic value of autoantibody profile in children with monogenic lupus

Sulaiman M. Al-Mayouf, M.D.1,2 , Alaa Hamad, M.D.2 , Wassima Kaidali, M.D.2 , Raghad Alhuthil, M.S.1 , Alhanouf Alsaleem, M.D.1

1Depatrment of Pedaitric Rheumatology, King Faisal Specialist Hospital and Research Center, 2Department of Pediatrics, Alfaisal University, Riyadh, Saudi Arabia

Correspondence to:Sulaiman M. Al-Mayouf, https://orcid.org/0000-0003-0142-6698
Depatrment of Pedaitric Rheumatology, King Faisal Specialist Hospital and Research Center, Takhassusi St, Al Mathar Ash Shamali, Riyadh 11211, Saudi Arabia. E-mail: mayouf@kfshrc.edu.sa

Received: October 5, 2023; Revised: November 21, 2023; Accepted: December 4, 2023

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Objective: To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus.
Methods: This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022. We excluded familial lupus without genetic testing and patients with insufficient data. Collected data comprised clinical and laboratory findings, including the autoantibody profile, which included the anti-double-stranded DNA (anti-dsDNA), anti-Smith, anti–Sjögren's-syndrome-related antigen A (anti-SSA), anti–Sjögren's-syndrome-related antigen B (anti-SSB), and antiphospholipid (APL) antibodies. Also, disease activity and accrual disease damage were collected at the last follow-up visit.
Results: This study enrolled 27 Arab patients (14 males) with a median age of 11 years (interquartile range 8.0~16 years), with 63% having early-onset disease. The consanguinity rate and family history of lupus were high (74.1% and 55.6%, respectively). The most frequent clinical features were hematological (96.3%), fever (81.5%), mucocutaneous lesions (85.2%), and renal (66.7%). The frequency of the APL antibodies was 59.3%, anti-dsDNA was 55.6%, and anti-Smith and anti-SSA were 48.2% and 44.4%, respectively. Moreover, dsDNA antibodies were significantly associated with musculoskeletal complaints (p<0.05). Likewise, both anti-Smith and anti-SSA antibodies were linked to failure to thrive and recurrent infections in the univariate analysis (p<0.05).
Conclusion: Our study reveals autoantibody frequencies and their association with clinical and prognostic in a substantial monogenic lupus cohort. Distinct clinical manifestations and prognosis association with certain autoantibodies support the idea that monogenic lupus is a distinctive form of lupus. Larger studies needed to validate these findings.

Keywords: Autoantibodies, Monogenic lupus, Systemic lupus erythematosus

JRD
Jan 01, 2024 Vol.31 No.1, pp. 1~63
COVER PICTURE
Characteristic findings in interstitial lung disease (ILD) detected by lung ultrasound. Lung ultrasound can reveal characteristic findings in ILD. However, the definitive diagnosis of ILD typically requires a combination of clinical assessment, imaging studies (such as high-resuloution computed tomography [HRCT]), and sometimes a lung biopsy. (A) Traction bronchiectasis and parenchymal changes of upper lung in HRCT (arrows). (B) Corresponding changes of lung ultrasound presented by B-lines (arrows). (J Rheum Dis 2024;31:3-14)

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