Kevin Chevalier, Brigitte Bader-Meunier, Isabelle Kone-Paut, Benjamin Thoreau, Marc Michel, Bertrand Godeau, Christian Agard, Thomas Papo, Karim Sacre, Rapha`ele Seror, Xavier Mariette, Patrice Cacoub, Ygal Benhamou, Mathilde Leclercq, C´ecile Goujard, Olivier Lambotte, Bernard Bonnotte, Maxime Samson, Félix Ackermann, Jean Schmidt, Pierre Duhaut, Jean-Emmanuel Kahn, Thomas Hanslik, Nathalie Costedoat-Chalumeau, Benjamin Terrier, Alexis Regent, Bertrand Dunogue, Pascal Cohen, Véronique LE Guern, Eric Hachulla, Luc Mouthon, Benjamin Chaigne
Assistance Publique-Hôpitaux de Paris. Hôpital Cochin and Université Paris Cité. Necker Hospital and Institut IMAGINE. Bicêtre University Hospital and University of Paris Saclay. CHRU de Tours. Henri-Mondor University Hospital and Université Paris Est Créteil. Nantes Université and CHU Nantes. Hôpital Bichat-Claude Bernard. Groupe Hospitalier Pitié-Salpêtrière and Université Paris. CHU de Rouen and UniRouen. Dijon University Hospital. Foch Hospital. Ambroise Paré Hospital and Université de Versailles. Amiens University Hospital and Université Picardie Jules Verne. University of Lille.
France
Seminars in Arthritis and Rheumatism
Semin Arthritis Rheum 2025; 76:
DOI: 10.1016/j.semarthrit.2025.152889
Abstract
Objectives: Juvenile-onset mixed connective tissue disease (jMCTD) accounts for 7-23 % of MCTD cases but remains poorly described. We aimed to characterize clinical features, treatments, and outcomes of patients with jMCTD, and compare them to adult-onset MCTD (aMCTD) patients.
Methods: We conducted a multicenter, retrospective, case-control study within the French MCTD cohort. Each jMCTD patient was compared to 3 matched aMCTD patients.
Results: Forty-seven jMCTD patients (93.6 % girls; median age at onset 14 [11-16] years) were included. Forty-four (93.6 %) jMCTD patients fulfilled either Sharp or Kasukawa diagnostic criteria. None of them met other diagnostic criteria without fulfilling Sharp or Kasukawa criteria. At diagnosis, jMCTD patients’ main manifestations were Raynaud’s phenomenon, arthralgia, and myalgia. jMCTD patients had less frequently puffy fingers than aMCTD (p < 0.0001). Cumulatively, jMCTD patients mainly received glucocorticoids (80.9 %), hydroxychloroquine (95.7 %) and immunosuppressants (93.6 %). They received a higher initial dose of glucocorticoids (30 [20-60] mg/day vs. 15 [10-35] mg/day, p = 0.02), and significantly more frequently methotrexate (Methotrexate) and rituximab (p = 0.01) over time compared to aMCTD. After a median follow-up of 9.8 [6.6-16.2] years, 29 (61.7 %) jMCTD patients were in remission (vs. 62 (44.0 %) aMCTD; p < 0.05), 36 % had progressed to another CTD (vs. 30.5 % aMCTD; p = 0.5), mainly systemic lupus erythematosus, 11 (23.4 %) had developed interstitial lung disease, 2 (4.3 %) pulmonary arterial hypertension, and 1 (2.1 %) died.
Conclusions: jMCTD share the same clinical characteristics as aMCTD patients, but less frequently have puffy fingers. Outcomes appear more favorable in jMCTD than aMCTD, with higher remission rates, albeit at the cost of more intensive treatment.
Category
Class I. Pulmonary Hypertension Associated with Connective Tissue Disease
Symptoms and Findings Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes