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Multicenter Study
. 2023 Aug;43(8):1485-1495.
doi: 10.1007/s00296-023-05300-x. Epub 2023 Mar 12.

Pediatric mixed connective tissue disease versus other overlap syndromes: a retrospective multicenter cohort study

Ezgi Deniz Batu  1   2 , Aybüke Günalp  3 , Sezgin Şahin  3 , Semanur Özdel  4 , Zehra Kızıldağ  5 , Aysenur Pac Kısaarslan  6 , İlknur Bağrul  4 , Muserref Kasap Cuceoglu  7 , Ayşe Tanatar  8 , Hafize Emine Sonmez  9 , Erdal Sag  10 , Selcan Demir  11 , Elif Çelikel  12 , Sengul Cağlayan  13 , Banu Çelikel Acar  12 , Betül Sözeri  13 , Nuray Aktay Ayaz  8 , Yelda Bilginer  7 , M Hakan Poyrazoğlu  6 , Erbil Ünsal  5 , Özgür Kasapçopur  3 , Seza Özen  7
Affiliations
Multicenter Study

Pediatric mixed connective tissue disease versus other overlap syndromes: a retrospective multicenter cohort study

Ezgi Deniz Batu et al. Rheumatol Int. 2023 Aug.

Abstract

Pediatric mixed connective tissue disease (MCTD) is a subgroup of overlap syndromes. We aimed to compare the characteristics and outcomes in children with MCTD and other overlap syndromes. All MCTD patients met either Kasukawa or Alarcon-Segovia and Villareal criteria. The patients with other overlap syndromes had the features of ≥ 2 autoimmune rheumatic diseases but did not meet MCTD diagnostic criteria. Thirty MCTD (F/M = 28/2) and thirty (F/M = 29/1) overlap patients were included (disease onset < 18 years). The most prominent phenotype at disease onset and the last visit was systemic lupus erythematosus (SLE) in the MCTD group; juvenile idiopathic arthritis and dermatomyositis/polymyositis, respectively, in the overlap group. At the last visit, systemic sclerosis (SSc) phenotype was more frequent among MCTD than overlap patients (60% vs. 33.3%; p = 0.038). The frequency of the predominant SLE phenotype had decreased (60% to 36.7%), while predominant SSc phenotype had increased (13.3% to 33.3%) during follow-up in MCTD patients. Weight loss (36.7% vs. 13.3%), digital ulcers (20% vs. 0), swollen hands (60% vs. 20%), Raynaud phenomenon (86.7% vs. 46.7%), hematologic involvement (70% vs. 26.7%), and anti-Sm positivity (29% vs. 3.3%) were more common, while Gottron papules (16.7% vs. 40%) were less frequent among MCTD than overlap patients (p < 0.05). A higher percentage of overlap patients achieved complete remission than MCTD patients (51.7% vs. 24.1%; p = 0.047). The disease phenotype and outcome differ between pediatric MCTD and other overlap syndromes where MCTD may be regarded as a more severe disease. Analyzing these patients could pave the way for early and effective treatment.

Keywords: Adolescent; Autoimmune diseases; Child; Mixed connective tissue disease.

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