Diffuse juvenile systemic sclerosis patients show distinct organ involvement, antibody pattern and have significantly more severe disease in the largest jssc cohort of the world. results from the juvenile scleroderma inception cohort

Abstract Introduction Juvenile systemic sclerosis (jSSc) is an orphan disease with a prevalence of 3 in 1 000 000 children. In adult patients there are significant differences between the clinical presentation of diffuse and limited subtypes. We reviewed clinical differences in presentation of subtypes in patients in the juvenile systemic scleroderma inception cohort (jSSc). Objectives To study the clinical presentation of jSSc patients with diffuse (djSSc) and limited (ljSSc) subtypes. Methods We reviewed the baseline clinical characteristics of the patients, who were recruited to the jSScC till December 2022. jSScC is a prospective cohort of jSSc patients, who developed the first non-Raynaud’s symptom before the age of 16 years and are under the age of 18 years at the time of inclusion. Results The JSScC included 232 patients, 68% (n = 159) had diffuse subtype. The median age at onset of Raynaud phenomenon was 10.4 years (7.3–12.9) and the median age at the first non-Raynaud symptom was 10.9 years (7.3–13.0). Median disease duration was 2.5 years (1.0–4.6). The female/male ratio was significantly lower in the djSSc subtype (3:1 vs 5:1, P < 0.001). Antibody profile was similar, with the exception of a significantly higher number of anticentromere positive patients in the ljSSc (10% vs 2%, P = 0.02). Decreased FVC < 80% was found in ∼30% and decreased DLCO < 80% was found in around 40% in both subtypes. Abnormal HRCT findings were found in 44% of patients. Pulmonary hypertension assessed by ultrasound was identified in ∼5% in both groups. Gastrointestinal involvement occurred in 43% of djSSc and 36% in ljSSc (P = 0.303). Patients with diffuse subtype had significantly higher modified Rodnan Skin Score (16 vs 4, P = 0.001), more frequently sclerodactyly (85% vs 55%, P < 0.001), a history of digital ulceration (62% vs 30%, P < 0.001), active ulceration (21% vs 8%, P = 0.021), telangiectasia (44% vs 22%, P = 0.002), a decreased Body Mass Index z scores ≤ -2 (20% vs 6%, P = 0.008) and decreased joint range of motion (64% vs 48%, P = 0.022). Patients with ljSSc had significantly higher rate of cardiac involvement (11% vs 3%, P = 0.007). Regarding patient related outcomes djSSc patients had more severe disease with respect to patient reported global disease activity by VAS 0–100 (40 vs 30, P = 0.024), patient reported global disease damage by VAS 0–100 (40 vs 25, P = 0.001), patient reported assessment of ulceration activity by VAS 0–100 (10 vs 0, P = 0.001) and patient reported Raynaud activity by VAS 0–100 (30 vs 15, P = 0.001). Regarding physician related outcomes the physician reported global disease activity by VAS 0–100 (30 vs 20, P = 0.001), physician reported global disease damage by VAS 0–100 (30 vs 20, P = 0.004), and physician assessed ulceration activity by VAS 0–100 (5 vs 0, P = 0.018) were significantly higher in djSSc. Conclusion In the largest jSSc cohort in the world, djSSc patients have a significantly more severe disease. Patients and physician related outcomes were significantly more severe in djSSc group. Interestingly, we found no differences regarding interstitial lung disease, pulmonary hypertension or gastrointestinal involvement, although the number of patients with decreased BMI < -2 z scores was significantly higher in the djSSc patients. Ethics Our work is approved by the IRB of the Ärztekammer Hamburg