Sulaiman M Al-Mayouf1, Lujayn Akbar2, Reem Abdwani3, Giulia Ginesi4, Stefano Volpi4,5, Marco Gattorno4,5, Reima Bakry6, Samia AlHashim2, Alhanouf Alsaleem2. 1. Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University, Po Box 3354, Riyadh, 11211, Saudi Arabia. mayouf@kfshrc.edu.sa. 2. Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University, Po Box 3354, Riyadh, 11211, Saudi Arabia. 3. Pediatric Rheumatology, Sultan Qaboos University, Muscat, Oman. 4. Pediatric Rheumatology, Centre for Autoinflammatory Diseases and Immunodeficiencies, IRCCS Istituto Giannina Gaslini, Genova, Italy. 5. DINOGMI, University of Genoa, Genoa, Italy. 6. Pediatric Rheumatology, East Jeddah Hospital, Jeddah, Saudi Arabia.
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.
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.
Authors: Eve Mary Dorothy Smith; Hanna Lythgoe; Angela Midgley; Michael William Beresford; Christian Michael Hedrich Journal: Clin Immunol Date: 2019-10-31 Impact factor: 3.969
Authors: Jonas Carlsson Almlöf; Sara Nystedt; Dag Leonard; Maija-Leena Eloranta; Giorgia Grosso; Christopher Sjöwall; Anders A Bengtsson; Andreas Jönsen; Iva Gunnarsson; Elisabet Svenungsson; Lars Rönnblom; Johanna K Sandling; Ann-Christine Syvänen Journal: Hum Genet Date: 2019-02-01 Impact factor: 4.132
Authors: J S Massias; E M D Smith; E Al-Abadi; K Armon; K Bailey; C Ciurtin; J Davidson; J Gardner-Medwin; K Haslam; D P Hawley; A Leahy; V Leone; F McErlane; D Mewar; G Modgil; R Moots; C Pilkington; A V Ramanan; S Rangaraj; P Riley; A Sridhar; N Wilkinson; M W Beresford; C M Hedrich Journal: Lupus Date: 2020-03-31 Impact factor: 2.911