Background Juvenile systemic sclerosis (jSSc) is an orphan autoimmune disease. Currently just retrospective data exist regarding evolvement of organ involvement. In the previous retrospective studies assessment of the organ involvement was not standardized. Our project is the first one, where data of jSSc patientes were collected prospectively and with a standardized assessment.
Objectives To learn about the characteristics and evolvement of organ involvement in jSSc
Methods Patients with jSSc were recruited worldwide and were prospectively assessed, using the proposed standardized patient assessment protocol. Data of the juvenile systemic sclerosis inception cohort have been contributed to the DeSScipher project which was funded by a grant of theEuropean Community's Framework Programme 7 under grant agreement N° 305495.”
Results 44 centers from 24 countries aggreed to participate on the project. The assent and consent forms were translated into the local native languages. Untill now 39 patients have been enrolled with a mean disease duration of 6.1 years. Thirty (77%) of the 39 patients were females. The mean age of the onset of Raynaud's phenomenon was 9.7 years (2-16 years), the youngest 2 years old. The mean age at the onset of the non-Raynaud presentation of jSSc was 10.3 years (3.0-16.00years). 29 (74%) of the 39 have diffuse subtype. 5 in the diffuse (17%) and 3 in the limited subtype (30%) had an overlap feature.
At the time of the inclusion the mean modified Rodnan Skin Score was 16.5. 26/37 had already capillary changes and 22/37 already history of ulcerations, 9/37 had active ulcerations at the time of the inclusion. 26/39 had cardiopulmonary involvement, 11/39 presented with signs of interstitial lung disease on imaging. Two patients had pulmonary hypertension. Three had renal involvement, but no renal crisis. 16/39 had gastrointestinal involvement and 11 of them esophageal involvement. 30/38 had musculoskeletal involvement. ANA positivity occurred in 30/36 and 12/30 of them were anti-Scl 70 positive. 1/23 had anticentromere positivity.
Conclusions We present the data on the first 39 patients with jSSc included in our cohort. The current recruitment data confirms that pediatric patients are different from the adult patients, with a higher proportion of diffuse subset patients with 74% and of patients with overlap features.
Disclosure of Interest None declared