Diffuse Juvenile Systemic Sclerosis Patients Show Distinct Organ Involvement, Antibody Pattern and Have More Severe Disease in the Largest jSSc Cohort of the World. Results from the Juvenile Scleroderma Inception Cohort

Ivan Foeldvari¹, Jens Klotsche², Kathryn Torok³, Ozgur Kasapcopur⁴, Amra Adrovic⁵, Brian Feldman⁶, FLAVIO SZTAJNBOK⁷, Maria Teresa TErreri⁸, Ana Sakamoto⁹, Sindhu Johnson¹⁰, Jordi Anton¹¹, Valda Stanevica¹², Raju Khubchandani¹³, Dieneke Schonenberg-Meinema¹⁴, Eslam Al-Abadi¹⁵, Ekaterina Alexeeva¹⁶, Maria Katsikas¹⁷, Sujata Sawhney¹⁸, Vanessa Smith¹⁹, Simone Appenzeller²⁰, Tadey Avcin²¹, Mikhail Kostik²², Thomas Lehman²³, Hana Malcova²⁴, Edoardo Marrani²⁵, Clare Pain²⁶, Natalia Vasquez-Canizares²⁷, Patricia Costa Reis²⁸, Mahesh Janarthanan²⁹, Maria Jose Santos³⁰, Sima Abu Alsaoud³¹, Christina Battagliotti³², Lillemor Berntson³³, blanca e r bica³⁴, Juergen Brunner³⁵, Daniela Kaiser³⁶, Dragana Lazarevic³⁷, Kirsten Minden³⁸, Farzana Nuruzzaman³⁹, Siri Opsahl Hetlevik⁴⁰, Yosef Uziel⁴¹ and Nicola Helmus⁴², ¹Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ²German Rheumatism Research Center, Berlin, Germany, ³University of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, ⁴Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey, ⁵Istanbul University - Cerrahpasa, Istanbul, Turkey, ⁶The Hospital for Sick Children, Toronto, ON, Canada, ⁷UFRJ/UERJ, São Paulo, Brazil, ⁸UNIFESP, São Paulo, Brazil, ⁹Federal University of São Paulo (UNIFESP), São Paulo, Brazil, ¹⁰Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada, ¹¹Hospital Sant Joan de Déu, Pediatric Rheumatology Department, Universitat de Barcelona, Barcelona, Spain, ¹²Children's Clinical University Hospital, Zemgales priekšpilseta, Riga, Latvia, ¹³SRCC Childrens Hospital, Mumbai, India, ¹⁴Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands, ¹⁵Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, United Kingdom, ¹⁶Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia, ¹⁷Hospital de Pediatria Juan P Garrahan, Servicio de Inmunologia/Reumatologia, Buenos Aires, Argentina, ¹⁸Sir Ganga Ram Hospital, Uttar Pradesh, India, ¹⁹Ghent University Hospital, Gent, Belgium, ²⁰UNICAMP, Campinas, Brazil, ²¹University Children's Hospital University Medical Center Ljubljana, Ljubljana, Slovenia, ²²Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia, ²³Hospital for Special Surgery, New York, NY, ²⁴Motol University Hospital, Prague, Czech Republic, ²⁵University of Florence, Firenze, Italy, ²⁶Alder Hey NHS Trust, Liverpool, United Kingdom, ²⁷Children’s Hospital at Montefiore, Bronx, NY, ²⁸Hospital de Santa Maria, Lisbon, Portugal, ²⁹SRI RAMACHANDRA INSTITUTE OF HIGHER EDUCATION AND RESEARCH, Chennai, India, ³⁰Hospital Garcia de Orta, Almada, Lisboa, Portugal, ³¹Caritas baby Hospital, East Jerusalem, Israel, ³²Hospital de Niños Dr Orlando Alassia, Santa Fe, Argentina, ³³Dept. of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden, ³⁴Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil, ³⁵Medical University Innsbruck; Department of Pediatrics, Pediatric Rheumatology, Innsbruck, Austria, ³⁶Children's Hospital Lucerne, Lucerne, Switzerland, ³⁷Dept of Pediatric Rheumatology and Immunology Clinical Center Nis, Faculty of Medicine, University of Niš, Nis, Serbia, ³⁸Charité University Medicine and German Rheumatism Research Center Berlin, Berlin, Germany, ³⁹Stony Brook Children's Hospital, Stony Brook, NY, ⁴⁰Oslo University Hospital, Oslo, Norway, ⁴¹Pediatric Rheumatology Unit, Meir Medical Center, Kfar Saba, Sackler School of Medicine, Tel Aviv University, Kfar Saba, Israel, ⁴²Hamburg Centre for Pediatric and Adolescence Rheumatology, Hamburg, Germany

Meeting: ACR Convergence 2023

Keywords: Outcome measures, Pediatric rheumatology, Systemic sclerosis

Session Information

Date: Monday, November 13, 2023

Title: Abstracts: Pediatric Rheumatology – Clinical II: Connective Tissue Disease

Session Type: Abstract Session

Session Time: 2:00PM-3:30PM

Background/Purpose: 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 clinical presentation of cutaneous diffuse (djSSc) and cutaneous limited phenotypes(ljSSc).

Methods: We reviewed the baseline clinical characteristics of the patients, who were recruited to the jSScC prior to April 2023. jSScC is a prospective cohort of jSSc patients, who developed the first non-Raynaud´s symptom before the age of 16 years and were under the age of 18 years at the time of inclusion.

Results: The jSScC included 238 patients, 69% (n=164) had cutaneous diffuse subtype. The median age at onset of Raynaud’s phenomenon was 10.4 years (7.3-12.9) and the median age at the first non-Raynaud’s symptom was 10.9 years (7.3-13.0). Median disease duration was 2.5 years (1.0-4.7). The female/male ratio was not significantly lower in the djSSc subtype (3.3:1 versus 4.7:1, p=0.611). Antibody profile was similar, with the exception of a significantly higher number of anticentromere positive patients in the ljSSc (10% versus 2%, p=0.019). Patients with djSSc had significantly higher modified Rodnan Skin Score (17 versus 4, p=0.011), more frequently sclerodactyly (85% versus 56%, p< 0.001), Gottron papules (31% versus 15%, p=0.008), a history of digital ulceration (61% versus 29%, p< 0.001), active ulceration (20% versus 8%, p=0.024),telangiectasia (45% versus 22%, p=0.001), a decreased Body Mass Index (BMI) z score ≤ -2 (19% versus 6%, p=0.010) and decreased joint range of motion (64% versus 47%, p=0.017). Patients with ljSSc had significantly higher rate of cardiac involvement (11% versus 2%, p=0.006). There was no difference between the groups regarding sicca symptoms, pulmonary involvement assessed by FVC, DLCO and high resolution lung CT; renal involvement; gastrointestinal involvement beside decreased BMI < -2 z score; and muscle weakness.

Regarding patient related outcomes assessed by visual analogue scales (VAS0 to 100), djSSc patients had more severe disease related to patient reported global disease activity (40 versus 30, p=0.041), patient reported global disease damage (40 versus 25, p=0.001), and patient reported Raynaud activity by(30 versus 18, p=0.025). Additionally, physician related outcomes assessed by visual analogue scales (VAS), the physician reported global disease activity (35 versus 20, p=0.034), and physician reported global disease damage (30 versus 20, p=0.011), were significantly higher in djSSc patients.

Conclusion: In the largest jSSc cohort in the world, djSSc patients have significantly more severe disease according to patient and physician related outcomes than ljSSc patients. Patients with djSSc also had more cutaneous, vascular, and musculoskeletal involvements and patients with ljSSc had more cardiac involvement. Interestingly, we found no significant 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.

This project was supported by an unrestricted grant from “Joachim Herz Stiftung”

Table 1. Characteristics of patients with diffuse and limited subtype

Disclosures: I. Foeldvari: Novartis, 2; J. Klotsche: None; K. Torok: None; O. Kasapcopur: Novartis, 6, Pfizer, 6; A. Adrovic: None; B. Feldman: AB2Bio, 2, Janssen, 2, Novo Nordisk, 2, Pfizer, 2; F. SZTAJNBOK: None; M. TErreri: None; A. Sakamoto: None; S. Johnson: None; J. Anton: Abbvie, 6, Amgen, 6, GSK, 2, Lilly, 6, Novartis, 2, 5, 6, Pfizer, 2, 6, Roche, 6, Sobi, 2, 5, 6; V. Stanevica: None; R. Khubchandani: None; D. Schonenberg-Meinema: None; E. Al-Abadi: None; E. Alexeeva: AbbVie, 5, 6, AMGen, 5, Bristol-Myers Squibb(BMS), 5, Eli Lilly, 5, Merck/MSD, 5, Novartis, 5, 6, Pfizer, 5, 6, Roche, 5, 6, Sanofi, 5, USB Pharma, 5; M. Katsikas: Novartis, 6, Pfizer, 6; S. Sawhney: None; V. Smith: Boehringer Ingelheim, 2, 5, 6, 12, Support for travel, Galapagos, 6, Janssen-Cilag, 1, 2, 5, 6; S. Appenzeller: None; T. Avcin: None; M. Kostik: None; T. Lehman: None; H. Malcova: Novartis, 6, Sanofi, 6; E. Marrani: None; C. Pain: None; N. Vasquez-Canizares: None; P. Costa Reis: Kyowa Kirin, 6; M. Janarthanan: None; M. Santos: None; S. Abu Alsaoud: None; C. Battagliotti: None; L. Berntson: None; b. bica: None; J. Brunner: None; D. Kaiser: None; D. Lazarevic: None; K. Minden: Amgen, 6, Medac, 6, Novartis, 6, Pfizer, 6; F. Nuruzzaman: None; S. Opsahl Hetlevik: None; Y. Uziel: None; N. Helmus: None.

To cite this abstract in AMA style:

Foeldvari I, Klotsche J, Torok K, Kasapcopur O, Adrovic A, Feldman B, SZTAJNBOK F, TErreri M, Sakamoto A, Johnson S, Anton J, Stanevica V, Khubchandani R, Schonenberg-Meinema D, Al-Abadi E, Alexeeva E, Katsikas M, Sawhney S, Smith V, Appenzeller S, Avcin T, Kostik M, Lehman T, Malcova H, Marrani E, Pain C, Vasquez-Canizares N, Costa Reis P, Janarthanan M, Santos M, Abu Alsaoud S, Battagliotti C, Berntson L, bica b, Brunner J, Kaiser D, Lazarevic D, Minden K, Nuruzzaman F, Opsahl Hetlevik S, Uziel Y, Helmus N. Diffuse Juvenile Systemic Sclerosis Patients Show Distinct Organ Involvement, Antibody Pattern and Have More Severe Disease in the Largest jSSc Cohort of the World. Results from the Juvenile Scleroderma Inception Cohort [abstract]. Arthritis Rheumatol. 2023; 75 (suppl 9). https://acrabstracts.org/abstract/diffuse-juvenile-systemic-sclerosis-patients-show-distinct-organ-involvement-antibody-pattern-and-have-more-severe-disease-in-the-largest-jssc-cohort-of-the-world-results-from-the-juvenile-scleroder/. Accessed .

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