POS0139 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
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 (jSScC).To study the clinical presentation of jSSc patients with diffuse (djSSc) and limited (ljSSc) subtypes.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.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), at the first non-Raynaud symptom 10.9 years (7.3-13.0) and median disease duration 2.5 years (1.0-4.6). The female/male ratio was significantly lower in the djSSc subtype (3:1 versus 5:1, p<0.001). Antibody profile was similar, with the exception of a significantly higher number of anticentromere positive patients in the ljSSc. Decreased FVC<80% was found in approximately 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 occurred in approximately 5% in both groups and gastrointestinal involvement in 43% of djSSc and 36% in ljSSc (p=0.303). Patients with djSSc had significantly higher modified Rodnan Skin Score, more frequently sclerodactyly, a history of digital ulceration active ulceration, telangiectasia, a decreased Body Mass Index z score ≤ -2 and decreased joint range of motion. Patients with ljSSc had significantly higher rate of cardiac involvement. Regarding patient related outcomes assessed by VAS 0-100 djSSc patients had more severe disease also physician related outcome assessed by VAS 0-100 were significantly higher in djSSc (see Table 1).Table 1.Comparison of subtypes at time of inclusion in the cohortWhole Group N=232Diffuse Subtype N=159Limited Subtype N=73P value Anticentromere5% (7/156)2% (2/106)10% (5/50)0.022 MRSS, median (IQR)10 (4 – 20)16 (8 - 27)4 (0 – 8)0.001 Gottron Papules26% (59/228)31% (48/155)15% (11/73)0.011 Sclerodactyly75% (165/219)85% (127/150)55% (38/69)<0.001 Telangiectasia37% (77/209)44%(62/141)22% (15/68)0.002 History of ulceration52% (119/229)62% (98/158)30% (21/71)<0.001 Active ulceration17% (39/229)21% (33/158)8% (6/71)0.021 Only Cardiac involvement5% (12/232)3% (4/159)11% (8/73)0.007 BMI<- 2 z score15% (33/217)20% (29/148)6% (4/69)0.008 Joints with decreased range59% (136/231)64% (101/158)48% (35/73)0.022Physician Reported (Median, IQR) Physician global disease activity30 (20 – 45)n=19735 (20– 50)n=13820 (10 – 30)n=590.001 Physician global disease damage30 (15 – 40)n=19530 (20 – 45)n=13820 (5 – 30)n=570.004 Physician ulceration activity0 (0 – 16)n=2165 (0 – 20)n=1540 (0 – 0)n=620.018Patient Reported (Median, IQR) Patient global disease activity40 (20 – 50)n=17840 (20 – 50)n=12930 (15 – 55)n=490.024 Patient global disease damage30 (15 – 60)n=17740 (20 – 60)n=12825 (5 – 55)n=490.001 Patient Raynaud activity30 (10 – 60)n=20230 (10 – 60)n=14515 (0 – 55)n=570.001 Patient ulceration activity0 (0 – 30)n=20310 (0 – 30)n=1450 (0 – 20)n=580.001In 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 score was significantly higher in the djSSc patients.NIL.NIL.None Declared.