POS0079 PATIENTS WITH JUVENILE SYSTEMIC SCLEROSIS HAVE A DISTINCT PATTERN OF ORGAN INVOLVEMENT.RESULTS FROM THE JUVENILE SYSTEMIC SCLEROSIS INCEPTION COHORT. WWW.JUVENILE-SCLERODERMA.COM
Authors: I. Foeldvari, J. Klotsche, O. Kasapcopur, A. Adrovic, K. Torok, M. T. Terreri, A. P. Sakamoto, B. Feldman, V. Stanevicha, J. Anton, F. R. Sztajnbok, R. Khubchandani, E. Alexeeva, M. Katsikas, S. Sawhney, V. Smith, S. Appenzeller, T. Avcin, M. Kostik, T. Lehman, E. Marrani, D. Schonenberg, W. A. Sifuentes-Giraldo, N. Vasquez-Canizares, M. Janarthanan, M. Moll, D. Nemcova, A. Patwardhan, M. J. Santos, C. Battagliotti, L. Berntson, B. Bica, J. Brunner, R. Cimaz, P. Costa Reis, D. Eleftheriou, L. Harel, G. Horneff, S. Johnson, D. Kaiser, T. Kallinich, D. Lazarevic, K. Minden, S. Nielsen, F. Nuruzzaman, S. Opsahl Hetlevik, Y. Uziel, N. Helmus
Journal: Annals of the Rheumatic Diseases (2021)

Background: Juvenile systemic sclerosis (jSSc) is a rare disease with a prevalence of around 3 in 1,000,000 children. To better capture the clinical manifestations of jSSc the juvenile systemic sclerosis inception cohort (jSScC) has been prospectively enrolling patients with predetermined clinical variables over the past 12 years. One of the goals is to study the demographic, clinical features, and physician and patient reported outcome differences between those with juvenile limited cutaneous (lc) compared to diffuse cutaneous (dc) disease subtypes, to determine if characteristics are similar or different between dc and lc jSSc. Objectives: Evaluation of the baseline clinical characteristics of jSSc patients in the jSScC. Compare clinical phenotype between diffuse (dcjSSc) and limited cutaneous (lcjSSc) subtypes. Methods: Demographic, physical examination, organ system evaluation, autoantibody profile, treatment, and patient and physician reported outcome variables were evaluated from the jSSc Inception cohort and summary statistics applied using chi-square test and Mann Whitney U-test comparing lcjSSc and dcjSSc subtypes. Results: At the time of data extraction, 175 jSSc patients were enrolled in the cohort, 81% were Caucasian and 81% female. Diffuse cutaneous jSSc subtype predominated (73%). Mean disease duration was 3.1 year (±2.7). Mean age at Raynaud´s was 10 years (+3.8) and mean age of first non-Raynaud´s was 10.2 years (±3.8). Significant differences were found between dcjSSc versus lcjSSc, regarding several clinical characteristics. Patients with diffuse cutaneous subtype had significantly higher modified Rodnan skin score (p=0.001), presence of sclerodactyly (p=0.02), presence of Gottron’s papules (p=0.003), presence of telangiectasia (p=0.001), history of digital tip ulceration (p=0.01), and frequency of elevated CK value (p=0.04). Cardiac involvement was significantly higher in limited cutaneous jSSc subtype (p=0.02). Diffuse cutaneous jSSc patients had significantly worse scores for Physician Global Assessment of disease activity (38 vs 25; p=0.002) and disease damage (34 vs 19; p=0.008). Table 1. Comparison of demographic data and significant differences between dcjSSc and lcjSSc at time of inclusion Whole Cohort N=175 Diffuse Subtype N=128 Limited Subtype N=47 P value Female to Male Ratio 4.3:1 (142/33) 4.1:1 (103/25) 4.8:1 (39/8) 0.829 Cutaneous subtype Diffuse subtype 73% (128) 128 0 Limited subtype 27% (47) 0 47 Mean Disease duration (years) 3.1 (± 2.7) 3.3 (± 2.9) 2.6 (± 2.2) 0.135 Mean age of onset of Raynaud´s (years) 10.0 (± 3.8) 17 non-Raynaud 9.8 (± 3.6) 10 non-Raynaud 10.6 (± 4.3) 7 non-Raynaud 0.219 Mean age of onset of non-Raynaud´s (years) 10.2 (± 3.9) 10.0 (± 3.7) 10.9 (± 4.3) 0.173 Disease modifying drugs 88% (154) 89% (114) 85% (40) 0.446 Cutaneous Mean modified Rodnan skin score 14.3 (0-51) 17.4 (0-51) 6.1 (0-24) 0.001 Gottron Papules 27% (46/171) 33% (41/124) 11% (5) 0.003 Sclerodactyly 78% (126/162) 82% (98/119) 65% (28/43) 0.020 Laboratory values Elevated CK 25% (30/122) 30% (26/88) 12% (4/34) 0.041 Vascular Telangiectasia 36% (56/154) 44% (49/111) 16% (7/43) 0.001 History of ulceration 53% (91/173) 61% (77/127) 30% (14/46) 0.001 Cardiac Cardiac Involvement 6% (10) 2% (3) 15% (7) 0.002 Patient Related Outcomes Physician global disease activity (0-100) min -max 35 (0-90) n=141 38 (0-90) n=108 25(0-80) n=33 0.002 Physician global disease damage (0-100) min -max 31 (0-85) n=140 34 (0-85) n=108 19 (0-60) n=32 0.008 Conclusion: Results from this large international cohort of jSSc patients demonstrate significant differences between dcjSSc and lcjSSc patients. According to the general organ involvement and physician global scores, the dcjSSc patients had significantly more severe disease. These observations strengthen our previous findings of the unique organ pattern of pediatric patients. Supported by the “Joachim Herz Stiftung” Disclosure of Interests: None declared.